Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232761del , CM000667.2:g.173232761del | GRCh38 |
| NC_000005.9:g.172659764del , CM000667.1:g.172659764del | GRCh37 |
| NC_000005.8:g.172592370del | NCBI36 |
| NG_013340.1:g.7552del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004387.4:c.783del MANE Select | NP_004378.1:p.Ala262ArgfsTer? |
| ENST00000329198.5:c.783del MANE Select | ENSP00000327758.4:p.Ala262ArgfsTer? |
| NM_001166175.1:c.*736del | NP_001159647.1:n.*736del |
| NM_001166175.2:c.*736del | NP_001159647.1:n.*736del |
| NM_001166176.1:c.*582del | NP_001159648.1:n.*582del |
| NM_001166176.2:c.*582del | NP_001159648.1:n.*582del |
| NM_004387.3:c.783del | NP_004378.1:p.Ala262ArgfsTer? |
| ENST00000329198.4:c.783del | ENSP00000327758.4:p.Ala262ArgfsTer? |