Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232994_5232996del , CM000673.2:g.5232994_5232996del | GRCh38 |
| NC_000011.9:g.5254224_5254226del , CM000673.1:g.5254224_5254226del | GRCh37 |
| NC_000011.8:g.5210800_5210802del | NCBI36 |
| NG_000007.3:g.64621_64623del | |
| NG_063112.2:g.15663_15665del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000519.4:c.413_415del MANE Select | NP_000510.1:p.Val138del |
| ENST00000650601.1:c.413_415del MANE Select | ENSP00000497529.1:p.Val138del |
| NM_000519.3:c.413_415del | NP_000510.1:p.Val138del |
| ENST00000292901.7:c.316-197_316-195del | ENSP00000292901.3:n.316-197_316-195del |
| ENST00000380299.3:c.413_415del | ENSP00000369654.3:p.Val138del |
| ENST00000417377.1:c.190_192del | ENSP00000414741.1:p.Trp64del |
| ENST00000643122.1:c.413_415del | ENSP00000494708.1:p.Val138del |