Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749958del , CM000677.2:g.74749958del | GRCh38 |
| NC_000015.9:g.75042299del , CM000677.1:g.75042299del | GRCh37 |
| NC_000015.8:g.72829352del | NCBI36 |
| NG_008431.1:g.32417del | |
| NG_008431.2:g.32417del | |
| NG_061543.1:g.6114del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.220del MANE Select | ENSP00000342007.4:p.Asp74ThrfsTer15 | |
| ENST00000343932.4:c.220del | ENSP00000342007.4:p.Asp74ThrfsTer15 | |
| NM_000761.4:c.220del | NP_000752.2:p.Asp74ThrfsTer15 | |
| NM_000761.5:c.220del MANE Select | NP_000752.2:p.Asp74ThrfsTer15 |