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_127814159del , CM000671.2:g.127814156_127814159del | GRCh38 |
| NC_000009.11:g.130576435_130576438del , CM000671.1:g.130576435_130576438del | GRCh37 |
| NC_000009.10:g.129616256_129616259del | NCBI36 |
| NG_009551.1:g.45613_45616del , LRG_589:g.45613_45616del | |
| NG_023245.1:g.16282_16285del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-52_710-49del | |
| XM_005251864.2:c.1484-52_1484-49del | XP_005251921.1:n.1484-52_1484-49del |
| XM_005251864.4:c.1484-52_1484-49del | XP_005251921.1:n.1484-52_1484-49del |
| XM_017014565.2:c.1334-52_1334-49del | XP_016870054.1:n.1334-52_1334-49del |
| XR_242582.2:n.1381-52_1381-49del | |
| XR_242582.4:n.1379-52_1379-49del |