MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011593 (NFE)
Genomes Max Group AF
0.00002848 (NFE)
Exomes Max Group AF
0.00011929 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180654864_180654865del , CM000665.2:g.180654864_180654865del | GRCh38 |
| NC_000003.11:g.180372652_180372653del , CM000665.1:g.180372652_180372653del | GRCh37 |
| NC_000003.10:g.181855346_181855347del | NCBI36 |
| NG_029581.1:g.29634_29635del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.830_831del MANE Select | ENSP00000417960.2:p.Thr277ArgfsTer3 | |
| ENST00000650641.1:n.818-2596_818-2595del | ||
| ENST00000650889.1:n.1002_1003del | ||
| ENST00000651046.1:c.739-2596_739-2595del | ENSP00000499175.1:n.739-2596_739-2595del | |
| ENST00000651818.1:n.881-2596_881-2595del | ||
| ENST00000652024.1:n.830-2596_830-2595del | ||
| ENST00000652408.1:n.967_968del | ||
| ENST00000442201.6:c.830_831del | ENSP00000405708.2:p.Thr277ArgfsTer3 | |
| ENST00000476379.5:c.830_831del | ENSP00000417960.1:p.Thr277ArgfsTer3 | |
| NM_181426.1:c.830_831del | NP_852091.1:p.Thr277ArgfsTer3 | |
| NM_181426.2:c.830_831del MANE Select | NP_852091.1:p.Thr277ArgfsTer3 |