Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44306839del , CM000682.2:g.44306839del | GRCh38 |
| NC_000020.10:g.42935479del , CM000682.1:g.42935479del | GRCh37 |
| NC_000020.9:g.42368893del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080472.4:c.576del MANE Select | NP_001073941.1:p.Val193TrpfsTer6 |
| ENST00000396825.4:c.576del MANE Select | ENSP00000380037.3:p.Val193TrpfsTer6 |
| NM_001080472.2:c.576del | NP_001073941.1:p.Val193TrpfsTer6 |
| NM_001080472.3:c.576del | NP_001073941.1:p.Val193TrpfsTer6 |
| ENST00000396825.3:c.576del | ENSP00000380037.3:p.Val193TrpfsTer6 |