Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007659del , CM000663.2:g.94007659del | GRCh38 |
| NC_000001.10:g.94473215del , CM000663.1:g.94473215del | GRCh37 |
| NC_000001.9:g.94245803del | NCBI36 |
| NG_009073.1:g.118494del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5983del MANE Select | ENSP00000359245.3:p.Asp1995MetfsTer4 | |
| ENST00000370225.3:c.5983del | ENSP00000359245.3:p.Asp1995MetfsTer4 | |
| ENST00000465352.1:n.399del | ||
| ENST00000484388.1:n.97del | ||
| ENST00000536513.5:c.2359del | ENSP00000439707.2:p.Asp787MetfsTer4 | |
| NM_000350.2:c.5983del | NP_000341.2:p.Asp1995MetfsTer4 | |
| NM_000350.3:c.5983del MANE Select | NP_000341.2:p.Asp1995MetfsTer4 |