Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785826del , CM000681.2:g.18785826del | GRCh38 |
| NC_000019.9:g.18896636del , CM000681.1:g.18896636del | GRCh37 |
| NC_000019.8:g.18757636del | NCBI36 |
| NG_007070.1:g.10480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1516del MANE Select | ENSP00000222271.2:p.Asp506ThrfsTer9 | |
| ENST00000222271.6:c.1516del | ENSP00000222271.2:p.Asp506ThrfsTer9 | |
| ENST00000425807.1:c.1357del | ENSP00000403792.1:p.Asp453ThrfsTer9 | |
| ENST00000542601.6:c.1417del | ENSP00000439156.2:p.Asp473ThrfsTer9 | |
| NM_000095.2:c.1516del | NP_000086.2:p.Asp506ThrfsTer9 | |
| NM_000095.3:c.1516del MANE Select | NP_000086.2:p.Asp506ThrfsTer9 |