Linked Data
ClinVar Variation Id:
495850
dbSNP Id:
rs781059624
ExAC:
17:19575115 TAA / T
gnomAD v2:
17-19575115-TAA-T
gnomAD v4:
17-19671802-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19671804_19671805del , CM000679.2:g.19671804_19671805del | GRCh38 |
| NC_000017.10:g.19575117_19575118del , CM000679.1:g.19575117_19575118del | GRCh37 |
| NC_000017.9:g.19515709_19515710del | NCBI36 |
| NG_007095.2:g.28054_28055del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1291_1292del MANE Select | ENSP00000176643.6:p.Lys431GlufsTer5 | |
| ENST00000395575.7:c.964_965del | ENSP00000378942.3:p.Lys322GlufsTer5 | |
| ENST00000472059.6:c.*849_*850del | ENSP00000458397.1:n.*849_*850del | |
| ENST00000571163.2:c.227-3692_227-3691del | ENSP00000459977.2:n.227-3692_227-3691del | |
| ENST00000573947.2:c.91_92del | ENSP00000462933.2:p.Lys31GlufsTer5 | |
| ENST00000574078.3:n.620_621del | ||
| ENST00000581518.6:c.1291_1292del | ENSP00000461916.2:p.Lys431GlufsTer5 | |
| ENST00000582991.6:c.*9_*10del | ENSP00000464153.1:n.*9_*10del | |
| ENST00000671878.1:c.1291_1292del | ENSP00000500516.1:p.Lys431GlufsTer5 | |
| ENST00000672059.1:n.1642_1643del | ||
| ENST00000672357.1:c.1291_1292del | ENSP00000500092.1:p.Lys431GlufsTer5 | |
| ENST00000672465.1:c.1291_1292del | ENSP00000500517.1:p.Lys431GlufsTer5 | |
| ENST00000672487.1:c.*471_*472del | ENSP00000500740.1:n.*471_*472del | |
| ENST00000672564.1:n.2960_2961del | ||
| ENST00000672567.1:c.1098+6757_1098+6758del | ||
| ENST00000672591.1:c.351_352del | ||
| ENST00000672608.1:n.2280_2281del | ||
| ENST00000672709.1:c.1145_1146del | ||
| ENST00000673064.1:n.1791_1792del | ||
| ENST00000673136.1:c.1208-3692_1208-3691del | ENSP00000500380.1:n.1208-3692_1208-3691del | |
| ENST00000673472.1:n.1627_1628del | ||
| ENST00000673516.1:n.1751_1752del | ||
| ENST00000176643.10:c.1291_1292del | ENSP00000176643.6:p.Lys431GlufsTer5 | |
| ENST00000339618.8:c.1291_1292del | ENSP00000345774.4:p.Lys431GlufsTer5 | |
| ENST00000395575.6:c.1291_1292del | ENSP00000378942.2:p.Lys431GlufsTer5 | |
| ENST00000472059.5:c.*849_*850del | ENSP00000458397.1:n.*849_*850del | |
| ENST00000476965.5:n.1041_1042del | ||
| ENST00000571163.1:c.227-3754_227-3753del | ENSP00000459977.1:n.227-3754_227-3753del | |
| ENST00000573565.1:c.6_7del | ||
| ENST00000573947.1:c.198_199del | ENSP00000462933.1:n.198_199del | |
| ENST00000575384.2:c.37_38del | ENSP00000461235.2:p.Lys13GlufsTer5 | |
| ENST00000579855.5:c.1291_1292del | ENSP00000463637.1:p.Lys431GlufsTer5 | |
| ENST00000581518.5:c.1291_1292del | ENSP00000461916.1:p.Lys431GlufsTer5 | |
| ENST00000582991.5:c.*9_*10del | ENSP00000464153.1:n.*9_*10del | |
| ENST00000630662.2:c.227-3754_227-3753del | ENSP00000487353.1:n.227-3754_227-3753del | |
| ENST00000631291.2:c.*9_*10del | ENSP00000486085.1:n.*9_*10del | |
| NM_000382.2:c.1291_1292del | NP_000373.1:p.Lys431GlufsTer5 | |
| NM_001031806.1:c.1291_1292del | NP_001026976.1:p.Lys431GlufsTer5 | |
| XM_011523732.1:c.1291_1292del | XP_011522034.1:p.Lys431GlufsTer5 | |
| XM_011523733.1:c.1291_1292del | XP_011522035.1:p.Lys431GlufsTer5 | |
| XM_011523733.2:c.1291_1292del | XP_011522035.1:p.Lys431GlufsTer5 | |
| XM_017024355.1:c.1208-3754_1208-3753del | XP_016879844.1:n.1208-3754_1208-3753del | |
| XM_017024356.2:c.1291_1292del | XP_016879845.1:p.Lys431GlufsTer5 | |
| XM_017024357.1:c.1291_1292del | XP_016879846.1:p.Lys431GlufsTer5 | |
| XM_017024358.2:c.1208-3754_1208-3753del | XP_016879847.1:n.1208-3754_1208-3753del | |
| XM_024450651.1:c.712_713del | XP_024306419.1:p.Lys238GlufsTer5 | |
| XM_024450652.1:c.712_713del | XP_024306420.1:p.Lys238GlufsTer5 | |
| NM_000382.3:c.1291_1292del MANE Select | NP_000373.1:p.Lys431GlufsTer5 | |
| NM_001031806.2:c.1291_1292del | NP_001026976.1:p.Lys431GlufsTer5 | |
| NM_001369136.1:c.1291_1292del | NP_001356065.1:p.Lys431GlufsTer5 | |
| NM_001369137.1:c.1291_1292del | NP_001356066.1:p.Lys431GlufsTer5 | |
| NM_001369138.1:c.1291_1292del | NP_001356067.1:p.Lys431GlufsTer5 | |
| NM_001369139.1:c.1291_1292del | NP_001356068.1:p.Lys431GlufsTer5 | |
| NM_001369146.1:c.1208-3754_1208-3753del | NP_001356075.1:n.1208-3754_1208-3753del | |
| NM_001369148.1:c.712_713del | NP_001356077.1:p.Lys238GlufsTer5 | |
| NM_001369137.2:c.1291_1292del | NP_001356066.1:p.Lys431GlufsTer5 | |
| NM_001369138.2:c.1291_1292del | NP_001356067.1:p.Lys431GlufsTer5 | |
| NM_001369146.2:c.1208-3754_1208-3753del | NP_001356075.1:n.1208-3754_1208-3753del | |
| NM_001369148.2:c.712_713del | NP_001356077.1:p.Lys238GlufsTer5 |