This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127814168_127814207delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG , CM000671.2:g.127814168_127814207delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG | GRCh38 |
| NC_000009.11:g.130576447_130576486delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG , CM000671.1:g.130576447_130576486delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG | GRCh37 |
| NC_000009.10:g.129616268_129616307delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG | NCBI36 |
| NG_009551.1:g.45562_45601delinsCTGAGGCGCACAGGGAGGGAGGGACTTGTTCCAGGCCACA , LRG_589:g.45562_45601delinsCTGAGGCGCACAGGGAGGGAGGGACTTGTTCCAGGCCACA | |
| NG_023245.1:g.16294_16333delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-40_710-1delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG | |
| XM_005251864.2:c.1484-40_1484-1delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG | XP_005251921.1:n.1484-40_1484-1delinsTGTGGCCTGGAACAAGTCCCTCCC... |
| XM_005251864.4:c.1484-40_1484-1delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG | XP_005251921.1:n.1484-40_1484-1delinsTGTGGCCTGGAACAAGTCCCTCCC... |
| XM_017014565.2:c.1334-40_1334-1delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG | XP_016870054.1:n.1334-40_1334-1delinsTGTGGCCTGGAACAAGTCCCTCCC... |
| XR_242582.2:n.1381-40_1381-1delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG | |
| XR_242582.4:n.1379-40_1379-1delinsTGTGGCCTGGAACAAGTCCCTCCCTCCCTGTGCGCCTCAG |