MyVariant.info:
GRCh38
chr17:g.19671810_19671811del
GRCh38
chr17:g.19671806_19671807del
GRCh38
chr17:g.19671805_19671806del
GRCh37
chr17:g.19575123_19575124del
GRCh37
chr17:g.19575118_19575119del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010792 (NFE)
Genomes Max Group AF
0.00005842 (NFE)
Exomes Max Group AF
0.0001078 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19671810_19671811del , CM000679.2:g.19671810_19671811del | GRCh38 |
| NC_000017.10:g.19575123_19575124del , CM000679.1:g.19575123_19575124del | GRCh37 |
| NC_000017.9:g.19515715_19515716del | NCBI36 |
| NG_007095.2:g.28060_28061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1297_1298del MANE Select | ENSP00000176643.6:p.Glu433ArgfsTer3 | |
| ENST00000395575.7:c.970_971del | ENSP00000378942.3:p.Glu324ArgfsTer3 | |
| ENST00000472059.6:c.*855_*856del | ENSP00000458397.1:n.*855_*856del | |
| ENST00000571163.2:c.227-3686_227-3685del | ENSP00000459977.2:n.227-3686_227-3685del | |
| ENST00000573947.2:c.97_98del | ENSP00000462933.2:p.Glu33ArgfsTer3 | |
| ENST00000574078.3:n.626_627del | ||
| ENST00000581518.6:c.1297_1298del | ENSP00000461916.2:p.Glu433ArgfsTer3 | |
| ENST00000582991.6:c.*15_*16del | ENSP00000464153.1:n.*15_*16del | |
| ENST00000671878.1:c.1297_1298del | ENSP00000500516.1:p.Glu433ArgfsTer3 | |
| ENST00000672059.1:n.1648_1649del | ||
| ENST00000672357.1:c.1297_1298del | ENSP00000500092.1:p.Glu433ArgfsTer3 | |
| ENST00000672465.1:c.1297_1298del | ENSP00000500517.1:p.Glu433ArgfsTer3 | |
| ENST00000672487.1:c.*477_*478del | ENSP00000500740.1:n.*477_*478del | |
| ENST00000672564.1:n.2966_2967del | ||
| ENST00000672567.1:c.1098+6763_1098+6764del | ||
| ENST00000672591.1:c.357_358del | ||
| ENST00000672608.1:n.2286_2287del | ||
| ENST00000672709.1:c.1151_1152del | ||
| ENST00000673064.1:n.1797_1798del | ||
| ENST00000673136.1:c.1208-3686_1208-3685del | ENSP00000500380.1:n.1208-3686_1208-3685del | |
| ENST00000673472.1:n.1633_1634del | ||
| ENST00000673516.1:n.1757_1758del | ||
| ENST00000176643.10:c.1297_1298del | ENSP00000176643.6:p.Glu433ArgfsTer3 | |
| ENST00000339618.8:c.1297_1298del | ENSP00000345774.4:p.Glu433ArgfsTer3 | |
| ENST00000395575.6:c.1297_1298del | ENSP00000378942.2:p.Glu433ArgfsTer3 | |
| ENST00000472059.5:c.*855_*856del | ENSP00000458397.1:n.*855_*856del | |
| ENST00000476965.5:n.1047_1048del | ||
| ENST00000571163.1:c.227-3748_227-3747del | ENSP00000459977.1:n.227-3748_227-3747del | |
| ENST00000573565.1:c.12_13del | ||
| ENST00000573947.1:c.204_205del | ENSP00000462933.1:n.204_205del | |
| ENST00000575384.2:c.43_44del | ENSP00000461235.2:p.Glu15ArgfsTer3 | |
| ENST00000579855.5:c.1297_1298del | ENSP00000463637.1:p.Glu433ArgfsTer3 | |
| ENST00000581518.5:c.1297_1298del | ENSP00000461916.1:p.Glu433ArgfsTer3 | |
| ENST00000582991.5:c.*15_*16del | ENSP00000464153.1:n.*15_*16del | |
| ENST00000630662.2:c.227-3748_227-3747del | ENSP00000487353.1:n.227-3748_227-3747del | |
| ENST00000631291.2:c.*15_*16del | ENSP00000486085.1:n.*15_*16del | |
| NM_000382.2:c.1297_1298del | NP_000373.1:p.Glu433ArgfsTer3 | |
| NM_001031806.1:c.1297_1298del | NP_001026976.1:p.Glu433ArgfsTer3 | |
| XM_011523732.1:c.1297_1298del | XP_011522034.1:p.Glu433ArgfsTer3 | |
| XM_011523733.1:c.1297_1298del | XP_011522035.1:p.Glu433ArgfsTer3 | |
| XM_011523733.2:c.1297_1298del | XP_011522035.1:p.Glu433ArgfsTer3 | |
| XM_017024355.1:c.1208-3748_1208-3747del | XP_016879844.1:n.1208-3748_1208-3747del | |
| XM_017024356.2:c.1297_1298del | XP_016879845.1:p.Glu433ArgfsTer3 | |
| XM_017024357.1:c.1297_1298del | XP_016879846.1:p.Glu433ArgfsTer3 | |
| XM_017024358.2:c.1208-3748_1208-3747del | XP_016879847.1:n.1208-3748_1208-3747del | |
| XM_024450651.1:c.718_719del | XP_024306419.1:p.Glu240ArgfsTer3 | |
| XM_024450652.1:c.718_719del | XP_024306420.1:p.Glu240ArgfsTer3 | |
| NM_000382.3:c.1297_1298del MANE Select | NP_000373.1:p.Glu433ArgfsTer3 | |
| NM_001031806.2:c.1297_1298del | NP_001026976.1:p.Glu433ArgfsTer3 | |
| NM_001369136.1:c.1297_1298del | NP_001356065.1:p.Glu433ArgfsTer3 | |
| NM_001369137.1:c.1297_1298del | NP_001356066.1:p.Glu433ArgfsTer3 | |
| NM_001369138.1:c.1297_1298del | NP_001356067.1:p.Glu433ArgfsTer3 | |
| NM_001369139.1:c.1297_1298del | NP_001356068.1:p.Glu433ArgfsTer3 | |
| NM_001369146.1:c.1208-3748_1208-3747del | NP_001356075.1:n.1208-3748_1208-3747del | |
| NM_001369148.1:c.718_719del | NP_001356077.1:p.Glu240ArgfsTer3 | |
| NM_001369137.2:c.1297_1298del | NP_001356066.1:p.Glu433ArgfsTer3 | |
| NM_001369138.2:c.1297_1298del | NP_001356067.1:p.Glu433ArgfsTer3 | |
| NM_001369146.2:c.1208-3748_1208-3747del | NP_001356075.1:n.1208-3748_1208-3747del | |
| NM_001369148.2:c.718_719del | NP_001356077.1:p.Glu240ArgfsTer3 |