Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411876del , CM000685.2:g.38411876del | GRCh38 |
| NC_000023.10:g.38271129del , CM000685.1:g.38271129del | GRCh37 |
| NC_000023.9:g.38156073del | NCBI36 |
| NG_008471.1:g.64394del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.882del MANE Select | ENSP00000039007.4:p.Ala295ProfsTer28 | |
| ENST00000643344.1:c.*632del | ENSP00000496606.1:n.*632del | |
| ENST00000039007.4:c.882del | ENSP00000039007.4:p.Ala295ProfsTer28 | |
| ENST00000465127.1:c.172-254245del | ENSP00000417050.1:n.172-254245del | |
| NM_000531.5:c.882del | NP_000522.3:p.Ala295ProfsTer28 | |
| XM_017029556.1:c.*15del | XP_016885045.1:n.*15del | |
| NM_000531.6:c.882del MANE Select | NP_000522.3:p.Ala295ProfsTer28 |