Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107945034del , CM000666.2:g.107945034del | GRCh38 |
| NC_000004.11:g.108866190del , CM000666.1:g.108866190del | GRCh37 |
| NC_000004.10:g.109085639del | NCBI36 |
| NG_007961.1:g.18474del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332884.11:c.555del MANE Select | ENSP00000333212.6:p.Arg186ValfsTer21 | |
| ENST00000332884.10:c.555del | ENSP00000333212.6:p.Arg186ValfsTer21 | |
| ENST00000508453.1:c.-73del | ENSP00000423667.1:n.-73del | |
| NM_183075.2:c.555del | NP_898898.1:p.Arg186ValfsTer21 | |
| XM_005262717.2:c.609del | XP_005262774.1:p.Arg204ValfsTer21 | |
| XM_005262720.2:c.491-2342del | XP_005262777.1:n.491-2342del | |
| XR_001741783.1:n.156-34484del | ||
| XR_001741784.1:n.530+33687del | ||
| NM_183075.3:c.555del MANE Select | NP_898898.1:p.Arg186ValfsTer21 |