Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.856057del , CM000681.2:g.856057del | GRCh38 |
| NC_000019.9:g.856057del , CM000681.1:g.856057del | GRCh37 |
| NC_000019.8:g.807057del | NCBI36 |
| NG_007274.1:g.1393del , LRG_46:g.1393del | |
| NG_009627.1:g.8767del , LRG_57:g.8767del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.697del MANE Select | ENSP00000263621.1:p.Ala233ProfsTer7 | |
| ENST00000263621.1:c.697del | ENSP00000263621.1:p.Ala233ProfsTer7 | |
| ENST00000590230.5:c.697del | ENSP00000466090.1:p.Ala233ProfsTer7 | |
| NM_001972.2:c.697del , LRG_57t1:c.697del | NP_001963.1:p.Ala233ProfsTer7 | |
| XM_011527775.1:c.697del | XP_011526077.1:p.Ala233ProfsTer7 | |
| XM_011527776.1:c.697del | XP_011526078.1:p.Ala233ProfsTer7 | |
| NM_001972.3:c.697del | NP_001963.1:p.Ala233ProfsTer7 | |
| NM_001972.4:c.697del MANE Select | NP_001963.1:p.Ala233ProfsTer7 |