gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000669 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000471 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180651498del , CM000665.2:g.180651498del | GRCh38 |
| NC_000003.11:g.180369286del , CM000665.1:g.180369286del | GRCh37 |
| NC_000003.10:g.181851980del | NCBI36 |
| NG_029581.1:g.33000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1072del MANE Select | ENSP00000417960.2:p.Thr358GlnfsTer3 | |
| ENST00000650641.1:n.959del | ||
| ENST00000650889.1:n.1463del | ||
| ENST00000651046.1:c.880del | ENSP00000499175.1:p.Thr294GlnfsTer3 | |
| ENST00000651818.1:n.1022del | ||
| ENST00000651922.1:n.397del | ||
| ENST00000652024.1:n.971del | ||
| ENST00000652408.1:n.1209del | ||
| ENST00000442201.6:c.1072del | ENSP00000405708.2:p.Thr358GlnfsTer3 | |
| ENST00000476379.5:c.1072del | ENSP00000417960.1:p.Thr358GlnfsTer3 | |
| NM_181426.1:c.1072del | NP_852091.1:p.Thr358GlnfsTer3 | |
| NM_181426.2:c.1072del MANE Select | NP_852091.1:p.Thr358GlnfsTer3 |