gnomAD v4:
Joint Max Group AF
0.00000932 (NFE)
Exomes Max Group AF
0.00001095 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171209125del , CM000663.2:g.171209125del | GRCh38 |
| NC_000001.10:g.171178264del , CM000663.1:g.171178264del | GRCh37 |
| NC_000001.9:g.169444888del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209929.10:c.1588del MANE Select | ENSP00000209929.8:p.Cys530AlafsTer23 | |
| ENST00000209929.9:c.1588del | ENSP00000209929.8:p.Cys530AlafsTer23 | |
| ENST00000488431.1:n.580del | ||
| ENST00000529935.5:c.1373del | ENSP00000487002.1:n.1373del | |
| NM_001301347.1:c.928del | NP_001288276.1:p.Cys310AlafsTer23 | |
| NM_001460.4:c.1588del | NP_001451.2:p.Cys530AlafsTer23 | |
| XR_426768.2:n.1705del | ||
| XR_921761.1:n.1705del | ||
| XR_922278.1:n.507+38462del | ||
| NM_001365900.1:c.1393del | NP_001352829.1:p.Cys465AlafsTer23 | |
| NR_158622.1:n.1608del | ||
| XR_001737072.2:n.1655del | ||
| XR_001738291.2:n.1306+38462del | ||
| XR_921761.3:n.1655del | ||
| XR_922278.3:n.1306+38462del | ||
| NM_001460.5:c.1588del MANE Select | NP_001451.2:p.Cys530AlafsTer23 | |
| NR_160266.1:n.1516del | ||
| NM_001301347.2:c.928del | NP_001288276.1:p.Cys310AlafsTer23 |