Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786021_18786032del , CM000681.2:g.18786021_18786032del | GRCh38 |
| NC_000019.9:g.18896831_18896842del , CM000681.1:g.18896831_18896842del | GRCh37 |
| NC_000019.8:g.18757831_18757842del | NCBI36 |
| NG_007070.1:g.10277_10288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1426_1437del MANE Select | ENSP00000222271.2:p.Gly476_Asp479del | |
| ENST00000222271.6:c.1426_1437del | ENSP00000222271.2:p.Gly476_Asp479del | |
| ENST00000425807.1:c.1267_1278del | ENSP00000403792.1:p.Gly423_Asp426del | |
| ENST00000542601.6:c.1327_1338del | ENSP00000439156.2:p.Gly443_Asp446del | |
| NM_000095.2:c.1426_1437del | NP_000086.2:p.Gly476_Asp479del | |
| NM_000095.3:c.1426_1437del MANE Select | NP_000086.2:p.Gly476_Asp479del |