gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000047 (NFE)
Exomes Max Group AF
0.0000046 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43610326del , CM000677.2:g.43610326del | GRCh38 |
| NC_000015.9:g.43902524del , CM000677.1:g.43902524del | GRCh37 |
| NC_000015.8:g.41689816del | NCBI36 |
| NG_011636.1:g.13475del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.3484del MANE Select | ENSP00000401513.2:p.Trp1162GlyfsTer? | |
| ENST00000428650.5:c.*516del | ENSP00000415991.1:n.*516del | |
| ENST00000440125.5:c.*1276del | ENSP00000394866.1:n.*1276del | |
| ENST00000448437.6:n.1355del | ||
| ENST00000450892.6:c.3484del | ENSP00000401513.2:p.Trp1162GlyfsTer? | |
| ENST00000455136.5:c.530-992del | ||
| ENST00000471703.5:n.1267del | ||
| ENST00000485556.5:n.1498del | ||
| ENST00000541030.5:c.1165del | ENSP00000440413.1:p.Trp389GlyfsTer? | |
| NM_153700.2:c.3484del MANE Select | NP_714544.1:p.Trp1162GlyfsTer? | |
| XM_011521277.1:c.3973del | XP_011519579.1:p.Trp1325GlyfsTer? | |
| XM_011521278.1:c.3589del | XP_011519580.1:p.Trp1197GlyfsTer? | |
| XM_011521279.1:c.3589del | XP_011519581.1:p.Trp1197GlyfsTer? |