Linked Data
dbSNP Id:
rs764745667
ExAC:
20:43253013 G / GGAGA
gnomAD v2:
20-43253013-G-GGAGA
gnomAD v4:
20-44624372-G-GGAGA
MyVariant Identifiers:
chr20:g.43253013_43253014insGAGA (hg19)
chr20:g.44624372_44624373insGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624375_44624378dup , CM000682.2:g.44624375_44624378dup | GRCh38 |
| NC_000020.10:g.43253016_43253019dup , CM000682.1:g.43253016_43253019dup | GRCh37 |
| NC_000020.9:g.42686430_42686433dup | NCBI36 |
| NG_007385.1:g.32360_32363dup , LRG_16:g.32360_32363dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.570-47_570-44dup | ||
| ENST00000536076.2:c.326-47_326-44dup | ENSP00000512234.1:n.326-47_326-44dup | |
| ENST00000536532.6:c.479-47_479-44dup | ENSP00000440946.1:n.479-47_479-44dup | |
| ENST00000537820.2:c.479-47_479-44dup | ENSP00000441818.1:n.479-47_479-44dup | |
| ENST00000539235.6:c.219-1298_219-1295dup | ENSP00000446464.1:n.219-1298_219-1295dup | |
| ENST00000695889.1:c.219-1446_219-1443dup | ENSP00000512240.1:n.219-1446_219-1443dup | |
| ENST00000695890.1:n.2282-47_2282-44dup | ||
| ENST00000695891.1:c.219-1446_219-1443dup | ENSP00000512241.1:n.219-1446_219-1443dup | |
| ENST00000695927.1:c.557-47_557-44dup | ENSP00000512270.1:n.557-47_557-44dup | |
| ENST00000695949.1:c.476-47_476-44dup | ENSP00000512281.1:n.476-47_476-44dup | |
| ENST00000695957.1:c.363-47_363-44dup | ENSP00000512286.1:n.363-47_363-44dup | |
| ENST00000695991.1:c.217-1446_217-1443dup | ENSP00000512314.1:n.217-1446_217-1443dup | |
| ENST00000695992.1:c.479-47_479-44dup | ENSP00000512315.1:n.479-47_479-44dup | |
| ENST00000695993.1:c.479-47_479-44dup | ENSP00000512316.1:n.479-47_479-44dup | |
| ENST00000695994.1:c.479-47_479-44dup | ENSP00000512317.1:n.479-47_479-44dup | |
| ENST00000695995.1:c.217-1298_217-1295dup | ENSP00000512318.1:n.217-1298_217-1295dup | |
| ENST00000695996.1:n.550-47_550-44dup | ||
| ENST00000695997.1:n.434-47_434-44dup | ||
| ENST00000696003.1:n.571-47_571-44dup | ||
| ENST00000696004.1:n.571-47_571-44dup | ||
| ENST00000696006.1:c.479-47_479-44dup | ENSP00000512325.1:n.479-47_479-44dup | |
| ENST00000696007.1:c.330-47_330-44dup | ENSP00000512326.1:n.330-47_330-44dup | |
| ENST00000696008.1:n.1587_1590dup | ||
| ENST00000696009.1:n.1782_1785dup | ||
| ENST00000696017.1:c.476-47_476-44dup | ENSP00000512333.1:n.476-47_476-44dup | |
| ENST00000696034.1:c.479-47_479-44dup | ENSP00000512343.1:n.479-47_479-44dup | |
| ENST00000696035.1:n.589-47_589-44dup | ||
| ENST00000696036.1:n.1169-47_1169-44dup | ||
| ENST00000696037.1:n.2156-47_2156-44dup | ||
| ENST00000696038.1:c.*225-47_*225-44dup | ENSP00000512344.1:n.*225-47_*225-44dup | |
| ENST00000696039.1:n.767-47_767-44dup | ||
| ENST00000696058.1:c.479-47_479-44dup | ENSP00000512361.1:n.479-47_479-44dup | |
| ENST00000696059.1:c.*424-47_*424-44dup | ENSP00000512362.1:n.*424-47_*424-44dup | |
| ENST00000696060.1:c.479-47_479-44dup | ENSP00000512363.1:n.479-47_479-44dup | |
| ENST00000696061.1:c.476-47_476-44dup | ENSP00000512364.1:n.476-47_476-44dup | |
| ENST00000696062.1:c.542-47_542-44dup | ENSP00000512365.1:n.542-47_542-44dup | |
| ENST00000696063.1:c.554-47_554-44dup | ENSP00000512366.1:n.554-47_554-44dup | |
| ENST00000696064.1:c.326-47_326-44dup | ENSP00000512367.1:n.326-47_326-44dup | |
| ENST00000696065.1:c.66-1446_66-1443dup | ENSP00000512368.1:n.66-1446_66-1443dup | |
| ENST00000696074.1:n.48_51dup | ||
| ENST00000696075.1:c.*449-47_*449-44dup | ENSP00000512374.1:n.*449-47_*449-44dup | |
| ENST00000696076.1:c.479-47_479-44dup | ENSP00000512375.1:n.479-47_479-44dup | |
| ENST00000696077.1:c.476-47_476-44dup | ENSP00000512376.1:n.476-47_476-44dup | |
| ENST00000696078.1:c.479-47_479-44dup | ENSP00000512377.1:n.479-47_479-44dup | |
| ENST00000696079.1:c.479-47_479-44dup | ENSP00000512378.1:n.479-47_479-44dup | |
| ENST00000696080.1:c.479-47_479-44dup | ENSP00000512379.1:n.479-47_479-44dup | |
| ENST00000696081.1:n.551_554dup | ||
| ENST00000696082.1:c.557-47_557-44dup | ENSP00000512380.1:n.557-47_557-44dup | |
| ENST00000696083.1:n.1313_1316dup | ||
| ENST00000696084.1:n.580-47_580-44dup | ||
| ENST00000696104.1:c.363-1446_363-1443dup | ENSP00000512399.1:n.363-1446_363-1443dup | |
| ENST00000696105.1:c.*20-47_*20-44dup | ENSP00000512400.1:n.*20-47_*20-44dup | |
| ENST00000372874.9:c.479-47_479-44dup MANE Select | ENSP00000361965.4:n.479-47_479-44dup | |
| ENST00000372874.8:c.479-47_479-44dup | ENSP00000361965.4:n.479-47_479-44dup | |
| ENST00000464097.5:n.153-47_153-44dup | ||
| ENST00000492931.5:n.563-47_563-44dup | ||
| ENST00000536532.5:c.479-47_479-44dup | ENSP00000440946.1:n.479-47_479-44dup | |
| ENST00000537820.1:c.479-47_479-44dup | ENSP00000441818.1:n.479-47_479-44dup | |
| ENST00000539235.5:c.219-1298_219-1295dup | ENSP00000446464.1:n.219-1298_219-1295dup | |
| NM_000022.2:c.479-47_479-44dup , LRG_16t1:c.479-47_479-44dup | NP_000013.2:n.479-47_479-44dup | |
| XM_005260236.2:c.479-47_479-44dup | XP_005260293.1:n.479-47_479-44dup | |
| XM_011528478.1:c.74-47_74-44dup | XP_011526780.1:n.74-47_74-44dup | |
| XM_011528479.1:c.74-47_74-44dup | XP_011526781.1:n.74-47_74-44dup | |
| XR_244129.1:n.533-47_533-44dup | ||
| NM_000022.3:c.479-47_479-44dup | NP_000013.2:n.479-47_479-44dup | |
| NM_001322050.1:c.74-47_74-44dup | NP_001308979.1:n.74-47_74-44dup | |
| NM_001322051.1:c.479-47_479-44dup | NP_001308980.1:n.479-47_479-44dup | |
| NR_136160.1:n.630-47_630-44dup | ||
| NM_000022.4:c.479-47_479-44dup MANE Select | NP_000013.2:n.479-47_479-44dup | |
| NM_001322050.2:c.74-47_74-44dup | NP_001308979.1:n.74-47_74-44dup | |
| NM_001322051.2:c.479-47_479-44dup | NP_001308980.1:n.479-47_479-44dup | |
| NR_136160.2:n.571-47_571-44dup |