Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403663del , CM000685.2:g.38403663del | GRCh38 |
| NC_000023.10:g.38262916del , CM000685.1:g.38262916del | GRCh37 |
| NC_000023.9:g.38147860del | NCBI36 |
| NG_008471.1:g.56181del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.586del MANE Select | NP_000522.3:p.Asp196MetfsTer10 |
| ENST00000039007.5:c.586del MANE Select | ENSP00000039007.4:p.Asp196MetfsTer10 |
| NM_000531.5:c.586del | NP_000522.3:p.Asp196MetfsTer10 |
| ENST00000039007.4:c.586del | ENSP00000039007.4:p.Asp196MetfsTer10 |
| ENST00000465127.1:c.172-262458del | ENSP00000417050.1:n.172-262458del |
| ENST00000488812.1:n.623del | |
| ENST00000643344.1:c.*336del | ENSP00000496606.1:n.*336del |
| XM_017029556.1:c.586del | XP_016885045.1:p.Asp196MetfsTer10 |