Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532628_129532630del , CM000665.2:g.129532628_129532630del | GRCh38 |
| NC_000003.11:g.129251471_129251473del , CM000665.1:g.129251471_129251473del | GRCh37 |
| NC_000003.10:g.130734161_130734163del | NCBI36 |
| NG_009115.1:g.8990_8992del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.792_794del MANE Select | ENSP00000296271.3:p.Cys264del | |
| ENST00000296271.3:c.792_794del | ENSP00000296271.3:p.Cys264del | |
| NM_000539.3:c.792_794del MANE Select | NP_000530.1:p.Cys264del |