Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160201367_160201372del , CM000663.2:g.160201367_160201372del | GRCh38 |
| NC_000001.10:g.160171157_160171162del , CM000663.1:g.160171157_160171162del | GRCh37 |
| NC_000001.9:g.158437781_158437786del | NCBI36 |
| NG_042040.1:g.15873_15878del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001231.5:c.1182_1187del MANE Select | NP_001222.3:p.Asp395_Asp396del |
| ENST00000368078.8:c.1182_1187del MANE Select | ENSP00000357057.3:p.Asp395_Asp396del |
| NM_001231.4:c.1182_1187del | NP_001222.3:p.Asp395_Asp396del |
| ENST00000368078.7:c.1182_1187del | ENSP00000357057.3:p.Asp395_Asp396del |
| ENST00000467691.1:c.345_350del | ENSP00000418051.1:p.Asp116_Asp117del |