gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.146909092_146909096del , CM000666.2:g.146909092_146909096del | GRCh38 |
| NC_000004.11:g.147830244_147830248del , CM000666.1:g.147830244_147830248del | GRCh37 |
| NC_000004.10:g.148049694_148049698del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325106.9:c.330_334del MANE Select | ENSP00000316740.4:p.Glu111AlafsTer3 | |
| ENST00000325106.8:c.330_334del | ENSP00000316740.4:p.Glu111AlafsTer3 | |
| ENST00000398886.8:c.330_334del | ENSP00000381861.5:p.Glu111AlafsTer3 | |
| ENST00000504425.5:c.330_334del | ENSP00000425778.1:p.Glu111AlafsTer3 | |
| ENST00000508306.5:c.330_334del | ENSP00000422648.1:p.Glu111AlafsTer3 | |
| ENST00000513335.5:c.408_412del | ENSP00000423505.1:p.Glu137AlafsTer3 | |
| NM_001300761.1:c.408_412del | NP_001287690.1:p.Glu137AlafsTer3 | |
| NM_031956.2:c.330_334del | NP_114162.2:p.Glu111AlafsTer3 | |
| XM_005263270.1:c.408_412del | XP_005263327.1:p.Glu137AlafsTer3 | |
| XM_006714335.1:c.408_412del | XP_006714398.1:p.Glu137AlafsTer3 | |
| XM_006714336.1:c.408_412del | XP_006714399.1:p.Glu137AlafsTer3 | |
| XM_006714338.1:c.330_334del | XP_006714401.1:p.Glu111AlafsTer3 | |
| XM_006714339.1:c.408_412del | XP_006714402.1:p.Glu137AlafsTer3 | |
| XM_011532310.1:c.408_412del | XP_011530612.1:p.Glu137AlafsTer3 | |
| XR_427552.1:n.644_648del | ||
| XR_938777.1:n.644_648del | ||
| XR_938778.1:n.644_648del | ||
| XR_938779.1:n.525_529del | ||
| NM_001300761.2:c.408_412del | NP_001287690.1:p.Glu137AlafsTer3 | |
| NM_001317806.1:c.330_334del | NP_001304735.1:p.Glu111AlafsTer3 | |
| NM_031956.3:c.330_334del | NP_114162.2:p.Glu111AlafsTer3 | |
| NR_133922.1:n.561_565del | ||
| XM_006714339.2:c.408_412del | XP_006714402.1:p.Glu137AlafsTer3 | |
| XM_011532310.2:c.408_412del | XP_011530612.1:p.Glu137AlafsTer3 | |
| XM_024454241.1:c.330_334del | XP_024310009.1:p.Glu111AlafsTer3 | |
| NM_001300761.3:c.408_412del | NP_001287690.1:p.Glu137AlafsTer3 | |
| NM_001317806.2:c.330_334del | NP_001304735.1:p.Glu111AlafsTer3 | |
| NR_133922.2:n.539_543del | ||
| NM_001300761.4:c.408_412del | NP_001287690.1:p.Glu137AlafsTer3 | |
| NM_001317806.3:c.330_334del | NP_001304735.1:p.Glu111AlafsTer3 | |
| NM_031956.4:c.330_334del MANE Select | NP_114162.2:p.Glu111AlafsTer3 | |
| NR_133922.3:n.539_543del |