gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Exomes Max Group AF
0.00000576 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6089071del , CM000682.2:g.6089071del | GRCh38 |
| NC_000020.10:g.6069718del , CM000682.1:g.6069718del | GRCh37 |
| NC_000020.9:g.6017718del | NCBI36 |
| NG_016213.1:g.39477del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.1161del | ENSP00000514127.1:p.Ala388LeufsTer14 | |
| ENST00000699096.1:n.1623del | ||
| ENST00000217289.9:c.1161del MANE Select | ENSP00000217289.4:p.Ala388LeufsTer14 | |
| ENST00000217289.8:c.1161del | ENSP00000217289.4:p.Ala388LeufsTer14 | |
| ENST00000478194.1:n.121del | ||
| ENST00000536936.1:c.390del | ENSP00000441063.1:p.Ala131LeufsTer14 | |
| NM_017671.4:c.1161del | NP_060141.3:p.Ala388LeufsTer14 | |
| XM_024451935.1:c.1161del | XP_024307703.1:p.Ala388LeufsTer14 | |
| NM_017671.5:c.1161del MANE Select | NP_060141.3:p.Ala388LeufsTer14 |