Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44107890del , CM000669.2:g.44107890del | GRCh38 |
| NC_000007.13:g.44147489del , CM000669.1:g.44147489del | GRCh37 |
| NC_000007.12:g.44114014del | NCBI36 |
| NG_056775.1:g.8571del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.821del MANE Select | NP_001120.3:p.Pro274LeufsTer18 |
| ENST00000223357.8:c.821del MANE Select | ENSP00000223357.3:p.Pro274LeufsTer18 |
| NM_001129.4:c.821del | NP_001120.3:p.Pro274LeufsTer18 |
| ENST00000223357.7:c.821del | ENSP00000223357.3:p.Pro274LeufsTer18 |
| ENST00000455443.5:c.540-117del | |
| XM_011515162.1:c.821del | XP_011513464.1:p.Pro274LeufsTer18 |