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.127814156_127814157insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA , CM000671.2:g.127814156_127814157insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA | GRCh38 |
| NC_000009.11:g.130576435_130576436insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA , CM000671.1:g.130576435_130576436insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA | GRCh37 |
| NC_000009.10:g.129616256_129616257insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA | NCBI36 |
| NG_009551.1:g.45612_45613insTGTTCCAGGCCACAGTGTTCCAGGCCACACTG , LRG_589:g.45612_45613insTGTTCCAGGCCACAGTGTTCCAGGCCACACTG | |
| NG_023245.1:g.16282_16283insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-52_710-51insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA | |
| XM_005251864.2:c.1484-52_1484-51insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA | XP_005251921.1:n.1484-52_1484-51insCAGTGTGGCCTGGAACACTGTGGCCT... |
| XM_005251864.4:c.1484-52_1484-51insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA | XP_005251921.1:n.1484-52_1484-51insCAGTGTGGCCTGGAACACTGTGGCCT... |
| XM_017014565.2:c.1334-52_1334-51insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA | XP_016870054.1:n.1334-52_1334-51insCAGTGTGGCCTGGAACACTGTGGCCT... |
| XR_242582.2:n.1381-52_1381-51insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA | |
| XR_242582.4:n.1379-52_1379-51insCAGTGTGGCCTGGAACACTGTGGCCTGGAACA |