Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586510_41586528del , CM000679.2:g.41586510_41586528del | GRCh38 |
| NC_000017.10:g.39742762_39742780del , CM000679.1:g.39742762_39742780del | GRCh37 |
| NC_000017.9:g.36996288_36996306del | NCBI36 |
| NG_008624.1:g.5373_5391del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.312_330del MANE Select | ENSP00000167586.6:p.Ala105TrpfsTer7 | |
| ENST00000167586.6:c.312_330del | ENSP00000167586.6:p.Ala105TrpfsTer7 | |
| NM_000526.4:c.312_330del | NP_000517.2:p.Ala105TrpfsTer7 | |
| NM_000526.5:c.312_330del MANE Select | NP_000517.3:p.Ala105TrpfsTer7 |