Canonical Allele Identifier: CA2365856568
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624275_44624276delinsAC , CM000682.2:g.44624275_44624276delinsAC GRCh38
NC_000020.10:g.43252916_43252917delinsAC , CM000682.1:g.43252916_43252917delinsAC GRCh37
NC_000020.9:g.42686330_42686331delinsAC NCBI36
NG_007385.1:g.32460_32461delinsGT , LRG_16:g.32460_32461delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000492931.6:n.623_624delinsGT
ENST00000536076.2:c.379_380delinsGT ENSP00000512234.1:p.Val127=
ENST00000536532.6:c.532_533delinsGT ENSP00000440946.1:p.Val178=
ENST00000537820.2:c.532_533delinsGT ENSP00000441818.1:p.Val178=
ENST00000539235.6:c.219-1198_219-1197delinsGT ENSP00000446464.1:n.219-1198_219-1197deli...
ENST00000695889.1:c.219-1346_219-1345delinsGT ENSP00000512240.1:n.219-1346_219-1345deli...
ENST00000695890.1:n.2335_2336delinsGT
ENST00000695891.1:c.219-1346_219-1345delinsGT ENSP00000512241.1:n.219-1346_219-1345deli...
ENST00000695927.1:c.610_611delinsGT ENSP00000512270.1:p.Val204=
ENST00000695949.1:c.529_530delinsGT ENSP00000512281.1:p.Val177=
ENST00000695957.1:c.*23_*24delinsGT ENSP00000512286.1:n.*23_*24delinsGT
ENST00000695991.1:c.217-1346_217-1345delinsGT ENSP00000512314.1:n.217-1346_217-1345deli...
ENST00000695992.1:c.532_533delinsGT ENSP00000512315.1:p.Val178=
ENST00000695993.1:c.532_533delinsGT ENSP00000512316.1:p.Val178=
ENST00000695994.1:c.532_533delinsGT ENSP00000512317.1:p.Val178=
ENST00000695995.1:c.217-1198_217-1197delinsGT ENSP00000512318.1:n.217-1198_217-1197deli...
ENST00000695996.1:n.603_604delinsGT
ENST00000695997.1:n.487_488delinsGT
ENST00000696003.1:n.624_625delinsGT
ENST00000696004.1:n.624_625delinsGT
ENST00000696005.1:c.54_55delinsGT
ENST00000696006.1:c.532_533delinsGT ENSP00000512325.1:p.Val178=
ENST00000696007.1:c.383_384delinsGT ENSP00000512326.1:n.383_384delinsGT
ENST00000696008.1:n.1687_1688delinsGT
ENST00000696009.1:n.1882_1883delinsGT
ENST00000696017.1:c.529_530delinsGT ENSP00000512333.1:p.Val177=
ENST00000696034.1:c.532_533delinsGT ENSP00000512343.1:p.Val178=
ENST00000696035.1:n.642_643delinsGT
ENST00000696036.1:n.1222_1223delinsGT
ENST00000696037.1:n.2209_2210delinsGT
ENST00000696038.1:c.*278_*279delinsGT ENSP00000512344.1:n.*278_*279delinsGT
ENST00000696039.1:n.820_821delinsGT
ENST00000696058.1:c.532_533delinsGT ENSP00000512361.1:p.Val178=
ENST00000696059.1:c.*477_*478delinsGT ENSP00000512362.1:n.*477_*478delinsGT
ENST00000696060.1:c.532_533delinsGT ENSP00000512363.1:p.Val178=
ENST00000696061.1:c.529_530delinsGT ENSP00000512364.1:p.Val177=
ENST00000696062.1:c.595_596delinsGT ENSP00000512365.1:p.Val199=
ENST00000696063.1:c.607_608delinsGT ENSP00000512366.1:p.Val203=
ENST00000696064.1:c.379_380delinsGT ENSP00000512367.1:p.Val127=
ENST00000696065.1:c.66-1346_66-1345delinsGT ENSP00000512368.1:n.66-1346_66-1345delins...
ENST00000696074.1:n.148_149delinsGT
ENST00000696075.1:c.*502_*503delinsGT ENSP00000512374.1:n.*502_*503delinsGT
ENST00000696076.1:c.532_533delinsGT ENSP00000512375.1:p.Val178=
ENST00000696077.1:c.529_530delinsGT ENSP00000512376.1:p.Val177=
ENST00000696078.1:c.532_533delinsGT ENSP00000512377.1:p.Val178=
ENST00000696079.1:c.532_533delinsGT ENSP00000512378.1:p.Val178=
ENST00000696080.1:c.532_533delinsGT ENSP00000512379.1:p.Val178=
ENST00000696081.1:n.651_652delinsGT
ENST00000696082.1:c.610_611delinsGT ENSP00000512380.1:p.Val204=
ENST00000696083.1:n.1413_1414delinsGT
ENST00000696084.1:n.633_634delinsGT
ENST00000696104.1:c.363-1346_363-1345delinsGT ENSP00000512399.1:n.363-1346_363-1345deli...
ENST00000696105.1:c.*73_*74delinsGT ENSP00000512400.1:n.*73_*74delinsGT
ENST00000372874.9:c.532_533delinsGT MANE Select ENSP00000361965.4:p.Val178=
ENST00000372874.8:c.532_533delinsGT ENSP00000361965.4:p.Val178=
ENST00000464097.5:n.206_207delinsGT
ENST00000492931.5:n.616_617delinsGT
ENST00000536532.5:c.532_533delinsGT ENSP00000440946.1:p.Val178=
ENST00000537820.1:c.532_533delinsGT ENSP00000441818.1:p.Val178=
ENST00000539235.5:c.219-1198_219-1197delinsGT ENSP00000446464.1:n.219-1198_219-1197deli...
NM_000022.2:c.532_533delinsGT , LRG_16t1:c.532_533delinsGT NP_000013.2:p.Val178=
XM_005260236.2:c.532_533delinsGT XP_005260293.1:p.Val178=
XM_011528478.1:c.127_128delinsGT XP_011526780.1:p.Val43=
XM_011528479.1:c.127_128delinsGT XP_011526781.1:p.Val43=
XR_244129.1:n.586_587delinsGT
NM_000022.3:c.532_533delinsGT NP_000013.2:p.Val178=
NM_001322050.1:c.127_128delinsGT NP_001308979.1:p.Val43=
NM_001322051.1:c.532_533delinsGT NP_001308980.1:p.Val178=
NR_136160.1:n.683_684delinsGT
NM_000022.4:c.532_533delinsGT MANE Select NP_000013.2:p.Val178=
NM_001322050.2:c.127_128delinsGT NP_001308979.1:p.Val43=
NM_001322051.2:c.532_533delinsGT NP_001308980.1:p.Val178=
NR_136160.2:n.624_625delinsGT