Linked Data
ClinVar Variation Id:
1076251
ClinVar RCV Id:
RCV001390080
dbSNP Id:
rs759445496
ExAC:
20:43252871 A / AG
gnomAD v2:
20-43252871-A-AG
gnomAD v3:
20-44624230-A-AG
gnomAD v4:
20-44624230-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624232dup , CM000682.2:g.44624232dup | GRCh38 |
| NC_000020.10:g.43252873dup , CM000682.1:g.43252873dup | GRCh37 |
| NC_000020.9:g.42686287dup | NCBI36 |
| NG_007385.1:g.32505dup , LRG_16:g.32505dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.668dup (ADA) | ||
| ENST00000536076.2:c.424dup (ADA) | ENSP00000512234.1:p.Leu142ProfsTer? | |
| ENST00000536532.6:c.577dup (ADA) | ENSP00000440946.1:p.Leu193ProfsTer? | |
| ENST00000537820.2:c.577dup (ADA) | ENSP00000441818.1:p.Leu193ProfsTer? | |
| ENST00000539235.6:c.219-1153dup (ADA) | ENSP00000446464.1:n.219-1153dup | |
| ENST00000695889.1:c.219-1301dup (ADA) | ENSP00000512240.1:n.219-1301dup | |
| ENST00000695890.1:n.2380dup (ADA) | ||
| ENST00000695891.1:c.219-1301dup (ADA) | ENSP00000512241.1:n.219-1301dup | |
| ENST00000695927.1:c.655dup (ADA) | ENSP00000512270.1:p.Leu219ProfsTer? | |
| ENST00000695949.1:c.574dup (ADA) | ENSP00000512281.1:p.Leu192ProfsTer? | |
| ENST00000695957.1:c.*68dup (ADA) | ENSP00000512286.1:n.*68dup | |
| ENST00000695991.1:c.217-1301dup (ADA) | ENSP00000512314.1:n.217-1301dup | |
| ENST00000695992.1:c.577dup (ADA) | ENSP00000512315.1:p.Leu193ProfsTer? | |
| ENST00000695993.1:c.577dup (ADA) | ENSP00000512316.1:p.Leu193ProfsTer? | |
| ENST00000695994.1:c.577dup (ADA) | ENSP00000512317.1:p.Leu193ProfsTer? | |
| ENST00000695995.1:c.217-1153dup (ADA) | ENSP00000512318.1:n.217-1153dup | |
| ENST00000695996.1:n.648dup (ADA) | ||
| ENST00000695997.1:n.532dup (ADA) | ||
| ENST00000696003.1:n.669dup (ADA) | ||
| ENST00000696004.1:n.669dup (ADA) | ||
| ENST00000696005.1:c.99dup (ADA) | ||
| ENST00000696006.1:c.577dup (ADA) | ENSP00000512325.1:p.Leu193ProfsTer? | |
| ENST00000696007.1:c.428dup (ADA) | ENSP00000512326.1:n.428dup | |
| ENST00000696008.1:n.1732dup (ADA) | ||
| ENST00000696009.1:n.1927dup (ADA) | ||
| ENST00000696017.1:c.574dup (ADA) | ENSP00000512333.1:p.Leu192ProfsTer? | |
| ENST00000696034.1:c.577dup (ADA) | ENSP00000512343.1:p.Leu193ProfsTer? | |
| ENST00000696035.1:n.687dup (ADA) | ||
| ENST00000696036.1:n.1267dup (ADA) | ||
| ENST00000696037.1:n.2254dup (ADA) | ||
| ENST00000696038.1:c.*323dup (ADA) | ENSP00000512344.1:n.*323dup | |
| ENST00000696039.1:n.865dup (ADA) | ||
| ENST00000696058.1:c.577dup (ADA) | ENSP00000512361.1:p.Leu193ProfsTer? | |
| ENST00000696059.1:c.*522dup (ADA) | ENSP00000512362.1:n.*522dup | |
| ENST00000696060.1:c.577dup (ADA) | ENSP00000512363.1:p.Leu193ProfsTer23 | |
| ENST00000696061.1:c.574dup (ADA) | ENSP00000512364.1:p.Leu192ProfsTer? | |
| ENST00000696062.1:c.640dup (ADA) | ENSP00000512365.1:p.Leu214ProfsTer? | |
| ENST00000696063.1:c.652dup (ADA) | ENSP00000512366.1:p.Leu218ProfsTer? | |
| ENST00000696064.1:c.424dup (ADA) | ENSP00000512367.1:p.Leu142ProfsTer? | |
| ENST00000696065.1:c.66-1301dup (ADA) | ENSP00000512368.1:n.66-1301dup | |
| ENST00000696074.1:n.193dup (ADA) | ||
| ENST00000696075.1:c.*547dup (ADA) | ENSP00000512374.1:n.*547dup | |
| ENST00000696076.1:c.577dup (ADA) | ENSP00000512375.1:p.Leu193ProfsTer23 | |
| ENST00000696077.1:c.574dup (ADA) | ENSP00000512376.1:p.Leu192ProfsTer? | |
| ENST00000696078.1:c.577dup (ADA) | ENSP00000512377.1:p.Leu193ProfsTer? | |
| ENST00000696079.1:c.577dup (ADA) | ENSP00000512378.1:p.Leu193ProfsTer? | |
| ENST00000696080.1:c.577dup (ADA) | ENSP00000512379.1:p.Leu193ProfsTer? | |
| ENST00000696081.1:n.696dup (ADA) | ||
| ENST00000696082.1:c.655dup (ADA) | ENSP00000512380.1:p.Leu219ProfsTer? | |
| ENST00000696083.1:n.1458dup (ADA) | ||
| ENST00000696084.1:n.678dup (ADA) | ||
| ENST00000696104.1:c.363-1301dup (ADA) | ENSP00000512399.1:n.363-1301dup | |
| ENST00000696105.1:c.*118dup (ADA) | ENSP00000512400.1:n.*118dup | |
| ENST00000372874.9:c.577dup (ADA) MANE Select | ENSP00000361965.4:p.Leu193ProfsTer? | |
| ENST00000372874.8:c.577dup (ADA) | ENSP00000361965.4:p.Leu193ProfsTer? | |
| ENST00000372887.5:c.*256dup (PKIG) | ENSP00000361978.1:n.*256dup | |
| ENST00000464097.5:n.251dup (ADA) | ||
| ENST00000492931.5:n.661dup (ADA) | ||
| ENST00000536532.5:c.577dup (ADA) | ENSP00000440946.1:p.Leu193ProfsTer? | |
| ENST00000537820.1:c.577dup (ADA) | ENSP00000441818.1:p.Leu193ProfsTer? | |
| ENST00000539235.5:c.219-1153dup (ADA) | ENSP00000446464.1:n.219-1153dup | |
| NM_000022.2:c.577dup , LRG_16t1:c.577dup (ADA) | NP_000013.2:p.Leu193ProfsTer? | |
| XM_005260236.2:c.577dup (ADA) | XP_005260293.1:p.Leu193ProfsTer? | |
| XM_011528478.1:c.172dup (ADA) | XP_011526780.1:p.Leu58ProfsTer? | |
| XM_011528479.1:c.172dup (ADA) | XP_011526781.1:p.Leu58ProfsTer? | |
| XR_244129.1:n.631dup (ADA) | ||
| NM_000022.3:c.577dup (ADA) | NP_000013.2:p.Leu193ProfsTer? | |
| NM_001322050.1:c.172dup (ADA) | NP_001308979.1:p.Leu58ProfsTer? | |
| NM_001322051.1:c.577dup (ADA) | NP_001308980.1:p.Leu193ProfsTer? | |
| NR_136160.1:n.728dup (ADA) | ||
| NM_000022.4:c.577dup (ADA) MANE Select | NP_000013.2:p.Leu193ProfsTer? | |
| NM_001322050.2:c.172dup (ADA) | NP_001308979.1:p.Leu58ProfsTer? | |
| NM_001322051.2:c.577dup (ADA) | NP_001308980.1:p.Leu193ProfsTer? | |
| NR_136160.2:n.669dup (ADA) |