Canonical Allele Identifier: CA2525072917
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624290_44624291insC , CM000682.2:g.44624290_44624291insC GRCh38
NC_000020.10:g.43252931_43252932insC , CM000682.1:g.43252931_43252932insC GRCh37
NC_000020.9:g.42686345_42686346insC NCBI36
NG_007385.1:g.32445_32446insG , LRG_16:g.32445_32446insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.608_609insG
ENST00000536076.2:c.364_365insG ENSP00000512234.1:p.Gln122ArgfsTer9
ENST00000536532.6:c.517_518insG ENSP00000440946.1:p.Gln173ArgfsTer9
ENST00000537820.2:c.517_518insG ENSP00000441818.1:p.Gln173ArgfsTer9
ENST00000539235.6:c.219-1213_219-1212insG ENSP00000446464.1:n.219-1213_219-1212insG
ENST00000695889.1:c.219-1361_219-1360insG ENSP00000512240.1:n.219-1361_219-1360insG
ENST00000695890.1:n.2320_2321insG
ENST00000695891.1:c.219-1361_219-1360insG ENSP00000512241.1:n.219-1361_219-1360insG
ENST00000695927.1:c.595_596insG ENSP00000512270.1:p.Gln199ArgfsTer9
ENST00000695949.1:c.514_515insG ENSP00000512281.1:p.Gln172ArgfsTer9
ENST00000695957.1:c.*8_*9insG ENSP00000512286.1:n.*8_*9insG
ENST00000695991.1:c.217-1361_217-1360insG ENSP00000512314.1:n.217-1361_217-1360insG
ENST00000695992.1:c.517_518insG ENSP00000512315.1:p.Gln173ArgfsTer9
ENST00000695993.1:c.517_518insG ENSP00000512316.1:p.Gln173ArgfsTer9
ENST00000695994.1:c.517_518insG ENSP00000512317.1:p.Gln173ArgfsTer9
ENST00000695995.1:c.217-1213_217-1212insG ENSP00000512318.1:n.217-1213_217-1212insG
ENST00000695996.1:n.588_589insG
ENST00000695997.1:n.472_473insG
ENST00000696003.1:n.609_610insG
ENST00000696004.1:n.609_610insG
ENST00000696005.1:c.39_40insG
ENST00000696006.1:c.517_518insG ENSP00000512325.1:p.Gln173ArgfsTer9
ENST00000696007.1:c.368_369insG ENSP00000512326.1:n.368_369insG
ENST00000696008.1:n.1672_1673insG
ENST00000696009.1:n.1867_1868insG
ENST00000696017.1:c.514_515insG ENSP00000512333.1:p.Gln172ArgfsTer9
ENST00000696034.1:c.517_518insG ENSP00000512343.1:p.Gln173ArgfsTer9
ENST00000696035.1:n.627_628insG
ENST00000696036.1:n.1207_1208insG
ENST00000696037.1:n.2194_2195insG
ENST00000696038.1:c.*263_*264insG ENSP00000512344.1:n.*263_*264insG
ENST00000696039.1:n.805_806insG
ENST00000696058.1:c.517_518insG ENSP00000512361.1:p.Gln173ArgfsTer9
ENST00000696059.1:c.*462_*463insG ENSP00000512362.1:n.*462_*463insG
ENST00000696060.1:c.517_518insG ENSP00000512363.1:p.Gln173ArgfsTer9
ENST00000696061.1:c.514_515insG ENSP00000512364.1:p.Gln172ArgfsTer9
ENST00000696062.1:c.580_581insG ENSP00000512365.1:p.Gln194ArgfsTer9
ENST00000696063.1:c.592_593insG ENSP00000512366.1:p.Gln198ArgfsTer9
ENST00000696064.1:c.364_365insG ENSP00000512367.1:p.Gln122ArgfsTer9
ENST00000696065.1:c.66-1361_66-1360insG ENSP00000512368.1:n.66-1361_66-1360insG
ENST00000696074.1:n.133_134insG
ENST00000696075.1:c.*487_*488insG ENSP00000512374.1:n.*487_*488insG
ENST00000696076.1:c.517_518insG ENSP00000512375.1:p.Gln173ArgfsTer9
ENST00000696077.1:c.514_515insG ENSP00000512376.1:p.Gln172ArgfsTer9
ENST00000696078.1:c.517_518insG ENSP00000512377.1:p.Gln173ArgfsTer9
ENST00000696079.1:c.517_518insG ENSP00000512378.1:p.Gln173ArgfsTer9
ENST00000696080.1:c.517_518insG ENSP00000512379.1:p.Gln173ArgfsTer9
ENST00000696081.1:n.636_637insG
ENST00000696082.1:c.595_596insG ENSP00000512380.1:p.Gln199ArgfsTer9
ENST00000696083.1:n.1398_1399insG
ENST00000696084.1:n.618_619insG
ENST00000696104.1:c.363-1361_363-1360insG ENSP00000512399.1:n.363-1361_363-1360insG
ENST00000696105.1:c.*58_*59insG ENSP00000512400.1:n.*58_*59insG
ENST00000372874.9:c.517_518insG MANE Select ENSP00000361965.4:p.Gln173ArgfsTer9
ENST00000372874.8:c.517_518insG ENSP00000361965.4:p.Gln173ArgfsTer9
ENST00000464097.5:n.191_192insG
ENST00000492931.5:n.601_602insG
ENST00000536532.5:c.517_518insG ENSP00000440946.1:p.Gln173ArgfsTer9
ENST00000537820.1:c.517_518insG ENSP00000441818.1:p.Gln173ArgfsTer9
ENST00000539235.5:c.219-1213_219-1212insG ENSP00000446464.1:n.219-1213_219-1212insG
NM_000022.2:c.517_518insG , LRG_16t1:c.517_518insG NP_000013.2:p.Gln173ArgfsTer9
XM_005260236.2:c.517_518insG XP_005260293.1:p.Gln173ArgfsTer9
XM_011528478.1:c.112_113insG XP_011526780.1:p.Gln38ArgfsTer9
XM_011528479.1:c.112_113insG XP_011526781.1:p.Gln38ArgfsTer9
XR_244129.1:n.571_572insG
NM_000022.3:c.517_518insG NP_000013.2:p.Gln173ArgfsTer9
NM_001322050.1:c.112_113insG NP_001308979.1:p.Gln38ArgfsTer9
NM_001322051.1:c.517_518insG NP_001308980.1:p.Gln173ArgfsTer9
NR_136160.1:n.668_669insG
NM_000022.4:c.517_518insG MANE Select NP_000013.2:p.Gln173ArgfsTer9
NM_001322050.2:c.112_113insG NP_001308979.1:p.Gln38ArgfsTer9
NM_001322051.2:c.517_518insG NP_001308980.1:p.Gln173ArgfsTer9
NR_136160.2:n.609_610insG