{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1246138694",
  "communityStandardTitle": [
    "NM_005633.4(SOS1):c.1858+408A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1166498141",
        "rs": 1166498141
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 39022162,
          "referenceAllele": "T",
          "start": 39022161
        }
      ],
      "hgvs": [
        "NC_000002.12:g.39022162T=",
        "CM000664.2:g.39022162T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 39249303,
          "referenceAllele": "T",
          "start": 39249302
        }
      ],
      "hgvs": [
        "NC_000002.11:g.39249303T=",
        "CM000664.1:g.39249303T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 39102807,
          "referenceAllele": "T",
          "start": 39102806
        }
      ],
      "hgvs": [
        "NC_000002.10:g.39102807T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 103302,
          "referenceAllele": "A",
          "start": 103301
        }
      ],
      "hgvs": [
        "NG_007530.1:g.103302A=",
        "LRG_754:g.103302A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "A",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000472480.2:n.2146A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 692,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 692,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000685279.1:c.625+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509424.1:n.625+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 2079,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000688043.1:n.2079+408A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1865,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1865,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000689668.1:n.1865+408A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1764,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690876.1:c.1747+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508955.1:n.1747+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1764,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000691229.1:c.1747+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510437.1:n.1747+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1764,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692089.1:c.1747+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508626.1:n.1747+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 680,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692620.1:c.625+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509311.1:n.625+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2487,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 2487,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.8:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.1858+408A="
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.1858+408A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:n.1858+408A="
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:n.1858+408A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1886,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000395038.6:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378479.2:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1899,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1899,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.6:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1945,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1945,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000426016.5:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387784.1:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1899,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1899,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.3:c.1858+408A=",
        "LRG_754t1:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1918,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1918,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.3:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1966,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1966,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533060.1:c.1951+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531362.1:n.1951+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1966,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1966,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533061.1:c.1951+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531363.1:n.1951+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1852,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.1:c.1837+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:n.1837+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2188,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 2188,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533063.1:c.1834+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531365.1:n.1834+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1807,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.1:c.1687+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:n.1687+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1966,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1966,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533065.1:c.1951+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531367.1:n.1951+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533066.1:c.793+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531368.1:n.793+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2128,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 2128,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.4:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2067,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 2067,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.2:c.1837+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:n.1837+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1807,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.2:c.1687+408A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:n.1687+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 1976,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382394.1:c.1837+408A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369323.1:n.1837+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2487,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 2487,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382395.1:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369324.1:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2487,
          "endIntronDirection": "+",
          "endIntronOffset": 408,
          "referenceAllele": "A",
          "start": 2487,
          "startIntronDirection": "+",
          "startIntronOffset": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.4:c.1858+408A="
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:n.1858+408A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.1858+408A="
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.1858+408A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:n.1858+408A="
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:n.1858+408A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}