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.127814177_127814215del , CM000671.2:g.127814177_127814215del | GRCh38 |
| NC_000009.11:g.130576456_130576494del , CM000671.1:g.130576456_130576494del | GRCh37 |
| NC_000009.10:g.129616277_129616315del | NCBI36 |
| NG_009551.1:g.45562_45600del , LRG_589:g.45562_45600del | |
| NG_023245.1:g.16303_16341del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-31_717del | |
| XM_005251864.2:c.1484-31_1491del | |
| XM_005251864.4:c.1484-31_1491del | |
| XM_017014565.2:c.1334-31_1341del | |
| XR_242582.2:n.1381-31_1388del | |
| XR_242582.4:n.1379-31_1386del |