gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001724 (NFE)
Exomes Max Group AF
0.00001746 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183235622del , CM000663.2:g.183235622del | GRCh38 |
| NC_000001.10:g.183204757del , CM000663.1:g.183204757del | GRCh37 |
| NC_000001.9:g.181471380del | NCBI36 |
| NG_007079.2:g.54359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.2348del MANE Select | ENSP00000264144.4:p.Glu783GlyfsTer? | |
| ENST00000264144.4:c.2348del | ENSP00000264144.4:p.Glu783GlyfsTer? | |
| ENST00000493293.5:c.2348del | ENSP00000432063.1:p.Glu783GlyfsTer? | |
| NM_005562.2:c.2348del | NP_005553.2:p.Glu783GlyfsTer? | |
| NM_018891.2:c.2348del | NP_061486.2:p.Glu783GlyfsTer? | |
| XM_017001273.2:c.*39del | XP_016856762.1:n.*39del | |
| NM_005562.3:c.2348del MANE Select | NP_005553.2:p.Glu783GlyfsTer? | |
| NM_018891.3:c.2348del | NP_061486.2:p.Glu783GlyfsTer? |