Linked Data
dbSNP Id:
rs1419503008
gnomAD v2:
17-19574982-TAG-T
gnomAD v3:
17-19671669-TAG-T
gnomAD v4:
17-19671669-TAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19671670_19671671del , CM000679.2:g.19671670_19671671del | GRCh38 |
| NC_000017.10:g.19574983_19574984del , CM000679.1:g.19574983_19574984del | GRCh37 |
| NC_000017.9:g.19515575_19515576del | NCBI36 |
| NG_007095.2:g.27920_27921del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1208-51_1208-50del MANE Select | ENSP00000176643.6:n.1208-51_1208-50del | |
| ENST00000395575.7:c.881-51_881-50del | ENSP00000378942.3:n.881-51_881-50del | |
| ENST00000472059.6:c.*766-51_*766-50del | ENSP00000458397.1:n.*766-51_*766-50del | |
| ENST00000571163.2:c.227-3826_227-3825del | ENSP00000459977.2:n.227-3826_227-3825del | |
| ENST00000573947.2:c.8-51_8-50del | ENSP00000462933.2:n.8-51_8-50del | |
| ENST00000574078.3:n.537-51_537-50del | ||
| ENST00000581518.6:c.1208-51_1208-50del | ENSP00000461916.2:n.1208-51_1208-50del | |
| ENST00000582991.6:c.1108-51_1108-50del | ENSP00000464153.1:n.1108-51_1108-50del | |
| ENST00000671878.1:c.1208-51_1208-50del | ENSP00000500516.1:n.1208-51_1208-50del | |
| ENST00000672059.1:n.1559-51_1559-50del | ||
| ENST00000672357.1:c.1208-51_1208-50del | ENSP00000500092.1:n.1208-51_1208-50del | |
| ENST00000672465.1:c.1208-51_1208-50del | ENSP00000500517.1:n.1208-51_1208-50del | |
| ENST00000672487.1:c.*388-51_*388-50del | ENSP00000500740.1:n.*388-51_*388-50del | |
| ENST00000672564.1:n.2877-51_2877-50del | ||
| ENST00000672567.1:c.1098+6623_1098+6624del | ||
| ENST00000672591.1:c.268-51_268-50del | ||
| ENST00000672608.1:n.2197-51_2197-50del | ||
| ENST00000672709.1:c.1062-51_1062-50del | ||
| ENST00000673064.1:n.1708-51_1708-50del | ||
| ENST00000673136.1:c.1208-3826_1208-3825del | ENSP00000500380.1:n.1208-3826_1208-3825del | |
| ENST00000673472.1:n.1544-51_1544-50del | ||
| ENST00000673516.1:n.1668-51_1668-50del | ||
| ENST00000176643.10:c.1208-51_1208-50del | ENSP00000176643.6:n.1208-51_1208-50del | |
| ENST00000339618.8:c.1208-51_1208-50del | ENSP00000345774.4:n.1208-51_1208-50del | |
| ENST00000395575.6:c.1208-51_1208-50del | ENSP00000378942.2:n.1208-51_1208-50del | |
| ENST00000472059.5:c.*766-51_*766-50del | ENSP00000458397.1:n.*766-51_*766-50del | |
| ENST00000476965.5:n.958-51_958-50del | ||
| ENST00000571163.1:c.227-3888_227-3887del | ENSP00000459977.1:n.227-3888_227-3887del | |
| ENST00000573947.1:c.115-51_115-50del | ENSP00000462933.1:n.115-51_115-50del | |
| ENST00000579855.5:c.1208-51_1208-50del | ENSP00000463637.1:n.1208-51_1208-50del | |
| ENST00000581518.5:c.1208-51_1208-50del | ENSP00000461916.1:n.1208-51_1208-50del | |
| ENST00000582991.5:c.1108-51_1108-50del | ENSP00000464153.1:n.1108-51_1108-50del | |
| ENST00000630662.2:c.227-3888_227-3887del | ENSP00000487353.1:n.227-3888_227-3887del | |
| ENST00000631291.2:c.1108-51_1108-50del | ENSP00000486085.1:n.1108-51_1108-50del | |
| NM_000382.2:c.1208-51_1208-50del | NP_000373.1:n.1208-51_1208-50del | |
| NM_001031806.1:c.1208-51_1208-50del | NP_001026976.1:n.1208-51_1208-50del | |
| XM_011523732.1:c.1208-51_1208-50del | XP_011522034.1:n.1208-51_1208-50del | |
| XM_011523733.1:c.1208-51_1208-50del | XP_011522035.1:n.1208-51_1208-50del | |
| XM_011523733.2:c.1208-51_1208-50del | XP_011522035.1:n.1208-51_1208-50del | |
| XM_017024355.1:c.1208-3888_1208-3887del | XP_016879844.1:n.1208-3888_1208-3887del | |
| XM_017024356.2:c.1208-51_1208-50del | XP_016879845.1:n.1208-51_1208-50del | |
| XM_017024357.1:c.1208-51_1208-50del | XP_016879846.1:n.1208-51_1208-50del | |
| XM_017024358.2:c.1208-3888_1208-3887del | XP_016879847.1:n.1208-3888_1208-3887del | |
| XM_024450651.1:c.629-51_629-50del | XP_024306419.1:n.629-51_629-50del | |
| XM_024450652.1:c.629-51_629-50del | XP_024306420.1:n.629-51_629-50del | |
| NM_000382.3:c.1208-51_1208-50del MANE Select | NP_000373.1:n.1208-51_1208-50del | |
| NM_001031806.2:c.1208-51_1208-50del | NP_001026976.1:n.1208-51_1208-50del | |
| NM_001369136.1:c.1208-51_1208-50del | NP_001356065.1:n.1208-51_1208-50del | |
| NM_001369137.1:c.1208-51_1208-50del | NP_001356066.1:n.1208-51_1208-50del | |
| NM_001369138.1:c.1208-51_1208-50del | NP_001356067.1:n.1208-51_1208-50del | |
| NM_001369139.1:c.1208-51_1208-50del | NP_001356068.1:n.1208-51_1208-50del | |
| NM_001369146.1:c.1208-3888_1208-3887del | NP_001356075.1:n.1208-3888_1208-3887del | |
| NM_001369148.1:c.629-51_629-50del | NP_001356077.1:n.629-51_629-50del | |
| NM_001369137.2:c.1208-51_1208-50del | NP_001356066.1:n.1208-51_1208-50del | |
| NM_001369138.2:c.1208-51_1208-50del | NP_001356067.1:n.1208-51_1208-50del | |
| NM_001369146.2:c.1208-3888_1208-3887del | NP_001356075.1:n.1208-3888_1208-3887del | |
| NM_001369148.2:c.629-51_629-50del | NP_001356077.1:n.629-51_629-50del |