Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352749del , CM000685.2:g.38352749del | GRCh38 |
| NC_000023.10:g.38212002del , CM000685.1:g.38212002del | GRCh37 |
| NC_000023.9:g.38096946del | NCBI36 |
| NG_008471.1:g.5267del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.53del MANE Select | NP_000522.3:p.His18ProfsTer20 |
| ENST00000039007.5:c.53del MANE Select | ENSP00000039007.4:p.His18ProfsTer20 |
| NM_000531.5:c.53del | NP_000522.3:p.His18ProfsTer20 |
| ENST00000039007.4:c.53del | ENSP00000039007.4:p.His18ProfsTer20 |
| ENST00000465127.1:c.172-313372del | ENSP00000417050.1:n.172-313372del |
| ENST00000488812.1:n.145del | |
| ENST00000643344.1:c.53del | ENSP00000496606.1:p.His18ProfsTer20 |
| XM_017029556.1:c.53del | XP_016885045.1:p.His18ProfsTer20 |