Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271173del , CM000668.2:g.31271173del | GRCh38 |
| NC_000006.11:g.31238950del , CM000668.1:g.31238950del | GRCh37 |
| NC_000006.10:g.31346929del | NCBI36 |
| NG_029422.2:g.5960del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.520del MANE Select | ENSP00000365402.5:p.Ala174ProfsTer7 | |
| ENST00000376228.9:c.520del | ENSP00000365402.5:p.Ala174ProfsTer7 | |
| ENST00000376237.8:c.*107del | ENSP00000365412.4:n.*107del | |
| ENST00000383329.7:c.520del | ENSP00000372819.3:p.Ala174ProfsTer7 | |
| ENST00000415537.1:c.518del | ||
| ENST00000484378.1:n.789del | ||
| ENST00000487245.5:n.879del | ||
| ENST00000495835.1:n.709del | ||
| NM_002117.5:c.520del | NP_002108.4:p.Ala174ProfsTer7 | |
| NM_002117.6:c.520del MANE Select | NP_002108.4:p.Ala174ProfsTer7 |