gnomAD v4:
Joint Max Group AF
0.00000629 (SAS)
Exomes Max Group AF
0.00000661 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43611298dup , CM000677.2:g.43611298dup | GRCh38 |
| NC_000015.9:g.43903496dup , CM000677.1:g.43903496dup | GRCh37 |
| NC_000015.8:g.41690788dup | NCBI36 |
| NG_011636.1:g.12503dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.3156dup MANE Select | ENSP00000401513.2:p.Cys1053LeufsTer20 | |
| ENST00000428650.5:c.*188dup | ENSP00000415991.1:n.*188dup | |
| ENST00000440125.5:c.*1215+201dup | ENSP00000394866.1:n.*1215+201dup | |
| ENST00000448437.6:n.383dup | ||
| ENST00000450892.6:c.3156dup | ENSP00000401513.2:p.Cys1053LeufsTer20 | |
| ENST00000455136.5:c.529+201dup | ||
| ENST00000470279.1:n.470dup | ||
| ENST00000471703.5:n.295dup | ||
| ENST00000483250.5:n.467dup | ||
| ENST00000485556.5:n.526dup | ||
| ENST00000541030.5:c.1104+201dup | ENSP00000440413.1:n.1104+201dup | |
| NM_153700.2:c.3156dup MANE Select | NP_714544.1:p.Cys1053LeufsTer20 | |
| XM_011521277.1:c.3645dup | XP_011519579.1:p.Cys1216LeufsTer20 | |
| XM_011521278.1:c.3258dup | XP_011519580.1:p.Cys1087LeufsTer20 | |
| XM_011521279.1:c.3258dup | XP_011519581.1:p.Cys1087LeufsTer20 |