Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411900del , CM000685.2:g.38411900del | GRCh38 |
| NC_000023.10:g.38271153del , CM000685.1:g.38271153del | GRCh37 |
| NC_000023.9:g.38156097del | NCBI36 |
| NG_008471.1:g.64418del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.906del MANE Select | NP_000522.3:p.Cys303AlafsTer20 |
| ENST00000039007.5:c.906del MANE Select | ENSP00000039007.4:p.Cys303AlafsTer20 |
| NM_000531.5:c.906del | NP_000522.3:p.Cys303AlafsTer20 |
| ENST00000039007.4:c.906del | ENSP00000039007.4:p.Cys303AlafsTer20 |
| ENST00000465127.1:c.172-254221del | ENSP00000417050.1:n.172-254221del |
| ENST00000643344.1:c.*656del | ENSP00000496606.1:n.*656del |