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.127814165_127814177del , CM000671.2:g.127814165_127814177del | GRCh38 |
| NC_000009.11:g.130576444_130576456del , CM000671.1:g.130576444_130576456del | GRCh37 |
| NC_000009.10:g.129616265_129616277del | NCBI36 |
| NG_009551.1:g.45598_45610del , LRG_589:g.45598_45610del | |
| NG_023245.1:g.16291_16303del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-43_710-31del | |
| XM_005251864.2:c.1484-43_1484-31del | XP_005251921.1:n.1484-43_1484-31del |
| XM_005251864.4:c.1484-43_1484-31del | XP_005251921.1:n.1484-43_1484-31del |
| XM_017014565.2:c.1334-43_1334-31del | XP_016870054.1:n.1334-43_1334-31del |
| XR_242582.2:n.1381-43_1381-31del | |
| XR_242582.4:n.1379-43_1379-31del |