gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899326del , CM000679.2:g.4899326del | GRCh38 |
| NC_000017.10:g.4802621del , CM000679.1:g.4802621del | GRCh37 |
| NC_000017.9:g.4743400del | NCBI36 |
| NG_008029.2:g.8752del | |
| NG_028005.1:g.70987del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1093del MANE Select | ENSP00000497829.1:p.Ala365ProfsTer20 | |
| ENST00000649830.1:c.160del | ENSP00000496907.1:p.Ala54ProfsTer20 | |
| ENST00000652550.1:n.823del | ||
| ENST00000293780.4:c.1093del | ENSP00000293780.4:p.Ala365ProfsTer20 | |
| ENST00000572438.1:n.779del | ||
| NM_000080.3:c.1093del | NP_000071.1:p.Ala365ProfsTer20 | |
| NM_000080.4:c.1093del MANE Select | NP_000071.1:p.Ala365ProfsTer20 | |
| XM_017024115.1:c.1057del | XP_016879604.1:p.Ala353ProfsTer20 | |
| XR_001752421.1:n.1823del |