Canonical Allele Identifier: CA2816474733
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624415_44624416insAAACACA , CM000682.2:g.44624415_44624416insAAACACA GRCh38
NC_000020.10:g.43253056_43253057insAAACACA , CM000682.1:g.43253056_43253057insAAACACA GRCh37
NC_000020.9:g.42686470_42686471insAAACACA NCBI36
NG_007385.1:g.32320_32321insTGTGTTT , LRG_16:g.32320_32321insTGTGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.570-87_570-86insTGTGTTT
ENST00000536076.2:c.326-87_326-86insTGTGTTT ENSP00000512234.1:n.326-87_326-86insTGTGTTT
ENST00000536532.6:c.479-87_479-86insTGTGTTT ENSP00000440946.1:n.479-87_479-86insTGTGTTT
ENST00000537820.2:c.479-87_479-86insTGTGTTT ENSP00000441818.1:n.479-87_479-86insTGTGTTT
ENST00000539235.6:c.219-1338_219-1337insTGTGTTT ENSP00000446464.1:n.219-1338_219-1337insTGTGTTT
ENST00000695889.1:c.219-1486_219-1485insTGTGTTT ENSP00000512240.1:n.219-1486_219-1485insTGTGTTT
ENST00000695890.1:n.2282-87_2282-86insTGTGTTT
ENST00000695891.1:c.219-1486_219-1485insTGTGTTT ENSP00000512241.1:n.219-1486_219-1485insTGTGTTT
ENST00000695927.1:c.557-87_557-86insTGTGTTT ENSP00000512270.1:n.557-87_557-86insTGTGTTT
ENST00000695949.1:c.476-87_476-86insTGTGTTT ENSP00000512281.1:n.476-87_476-86insTGTGTTT
ENST00000695957.1:c.363-87_363-86insTGTGTTT ENSP00000512286.1:n.363-87_363-86insTGTGTTT
ENST00000695991.1:c.217-1486_217-1485insTGTGTTT ENSP00000512314.1:n.217-1486_217-1485insTGTGTTT
ENST00000695992.1:c.479-87_479-86insTGTGTTT ENSP00000512315.1:n.479-87_479-86insTGTGTTT
ENST00000695993.1:c.479-87_479-86insTGTGTTT ENSP00000512316.1:n.479-87_479-86insTGTGTTT
ENST00000695994.1:c.479-87_479-86insTGTGTTT ENSP00000512317.1:n.479-87_479-86insTGTGTTT
ENST00000695995.1:c.217-1338_217-1337insTGTGTTT ENSP00000512318.1:n.217-1338_217-1337insTGTGTTT
ENST00000695996.1:n.550-87_550-86insTGTGTTT
ENST00000695997.1:n.434-87_434-86insTGTGTTT
ENST00000696003.1:n.571-87_571-86insTGTGTTT
ENST00000696004.1:n.571-87_571-86insTGTGTTT
ENST00000696006.1:c.479-87_479-86insTGTGTTT ENSP00000512325.1:n.479-87_479-86insTGTGTTT
ENST00000696007.1:c.330-87_330-86insTGTGTTT ENSP00000512326.1:n.330-87_330-86insTGTGTTT
ENST00000696008.1:n.1547_1548insTGTGTTT
ENST00000696009.1:n.1742_1743insTGTGTTT
ENST00000696017.1:c.476-87_476-86insTGTGTTT ENSP00000512333.1:n.476-87_476-86insTGTGTTT
ENST00000696034.1:c.479-87_479-86insTGTGTTT ENSP00000512343.1:n.479-87_479-86insTGTGTTT
ENST00000696035.1:n.589-87_589-86insTGTGTTT
ENST00000696036.1:n.1169-87_1169-86insTGTGTTT
ENST00000696037.1:n.2156-87_2156-86insTGTGTTT
ENST00000696038.1:c.*225-87_*225-86insTGTGTTT ENSP00000512344.1:n.*225-87_*225-86insTGTGTTT
ENST00000696039.1:n.767-87_767-86insTGTGTTT
ENST00000696058.1:c.479-87_479-86insTGTGTTT ENSP00000512361.1:n.479-87_479-86insTGTGTTT
ENST00000696059.1:c.*424-87_*424-86insTGTGTTT ENSP00000512362.1:n.*424-87_*424-86insTGTGTTT
ENST00000696060.1:c.479-87_479-86insTGTGTTT ENSP00000512363.1:n.479-87_479-86insTGTGTTT
ENST00000696061.1:c.476-87_476-86insTGTGTTT ENSP00000512364.1:n.476-87_476-86insTGTGTTT
ENST00000696062.1:c.542-87_542-86insTGTGTTT ENSP00000512365.1:n.542-87_542-86insTGTGTTT
ENST00000696063.1:c.554-87_554-86insTGTGTTT ENSP00000512366.1:n.554-87_554-86insTGTGTTT
ENST00000696064.1:c.326-87_326-86insTGTGTTT ENSP00000512367.1:n.326-87_326-86insTGTGTTT
ENST00000696065.1:c.66-1486_66-1485insTGTGTTT ENSP00000512368.1:n.66-1486_66-1485insTGTGTTT
ENST00000696074.1:n.8_9insTGTGTTT
ENST00000696075.1:c.*449-87_*449-86insTGTGTTT ENSP00000512374.1:n.*449-87_*449-86insTGTGTTT
ENST00000696076.1:c.479-87_479-86insTGTGTTT ENSP00000512375.1:n.479-87_479-86insTGTGTTT
ENST00000696077.1:c.476-87_476-86insTGTGTTT ENSP00000512376.1:n.476-87_476-86insTGTGTTT
ENST00000696078.1:c.479-87_479-86insTGTGTTT ENSP00000512377.1:n.479-87_479-86insTGTGTTT
ENST00000696079.1:c.479-87_479-86insTGTGTTT ENSP00000512378.1:n.479-87_479-86insTGTGTTT
ENST00000696080.1:c.479-87_479-86insTGTGTTT ENSP00000512379.1:n.479-87_479-86insTGTGTTT
ENST00000696081.1:n.511_512insTGTGTTT
ENST00000696082.1:c.557-87_557-86insTGTGTTT ENSP00000512380.1:n.557-87_557-86insTGTGTTT
ENST00000696083.1:n.1273_1274insTGTGTTT
ENST00000696084.1:n.580-87_580-86insTGTGTTT
ENST00000696104.1:c.363-1486_363-1485insTGTGTTT ENSP00000512399.1:n.363-1486_363-1485insTGTGTTT
ENST00000696105.1:c.*20-87_*20-86insTGTGTTT ENSP00000512400.1:n.*20-87_*20-86insTGTGTTT
ENST00000372874.9:c.479-87_479-86insTGTGTTT MANE Select ENSP00000361965.4:n.479-87_479-86insTGTGTTT
ENST00000372874.8:c.479-87_479-86insTGTGTTT ENSP00000361965.4:n.479-87_479-86insTGTGTTT
ENST00000464097.5:n.153-87_153-86insTGTGTTT
ENST00000492931.5:n.563-87_563-86insTGTGTTT
ENST00000536532.5:c.479-87_479-86insTGTGTTT ENSP00000440946.1:n.479-87_479-86insTGTGTTT
ENST00000537820.1:c.479-87_479-86insTGTGTTT ENSP00000441818.1:n.479-87_479-86insTGTGTTT
ENST00000539235.5:c.219-1338_219-1337insTGTGTTT ENSP00000446464.1:n.219-1338_219-1337insTGTGTTT
NM_000022.2:c.479-87_479-86insTGTGTTT , LRG_16t1:c.479-87_479-86insTGTGTTT NP_000013.2:n.479-87_479-86insTGTGTTT
XM_005260236.2:c.479-87_479-86insTGTGTTT XP_005260293.1:n.479-87_479-86insTGTGTTT
XM_011528478.1:c.74-87_74-86insTGTGTTT XP_011526780.1:n.74-87_74-86insTGTGTTT
XM_011528479.1:c.74-87_74-86insTGTGTTT XP_011526781.1:n.74-87_74-86insTGTGTTT
XR_244129.1:n.533-87_533-86insTGTGTTT
NM_000022.3:c.479-87_479-86insTGTGTTT NP_000013.2:n.479-87_479-86insTGTGTTT
NM_001322050.1:c.74-87_74-86insTGTGTTT NP_001308979.1:n.74-87_74-86insTGTGTTT
NM_001322051.1:c.479-87_479-86insTGTGTTT NP_001308980.1:n.479-87_479-86insTGTGTTT
NR_136160.1:n.630-87_630-86insTGTGTTT
NM_000022.4:c.479-87_479-86insTGTGTTT MANE Select NP_000013.2:n.479-87_479-86insTGTGTTT
NM_001322050.2:c.74-87_74-86insTGTGTTT NP_001308979.1:n.74-87_74-86insTGTGTTT
NM_001322051.2:c.479-87_479-86insTGTGTTT NP_001308980.1:n.479-87_479-86insTGTGTTT
NR_136160.2:n.571-87_571-86insTGTGTTT