Canonical Allele Identifier: CA2365856561
Gene: ADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624267_44624269delinsCAA , CM000682.2:g.44624267_44624269delinsCAA GRCh38
NC_000020.10:g.43252908_43252910delinsCAA , CM000682.1:g.43252908_43252910delinsCAA GRCh37
NC_000020.9:g.42686322_42686324delinsCAA NCBI36
NG_007385.1:g.32467_32469delinsTTG , LRG_16:g.32467_32469delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.630_632delinsTTG
ENST00000536076.2:c.386_388delinsTTG ENSP00000512234.1:p.Ile129=
ENST00000536532.6:c.539_541delinsTTG ENSP00000440946.1:p.Ile180=
ENST00000537820.2:c.539_541delinsTTG ENSP00000441818.1:p.Ile180=
ENST00000539235.6:c.219-1191_219-1189delinsTTG ENSP00000446464.1:n.219-1191_219-1189delinsTTG
ENST00000695889.1:c.219-1339_219-1337delinsTTG ENSP00000512240.1:n.219-1339_219-1337delinsTTG
ENST00000695890.1:n.2342_2344delinsTTG
ENST00000695891.1:c.219-1339_219-1337delinsTTG ENSP00000512241.1:n.219-1339_219-1337delinsTTG
ENST00000695927.1:c.617_619delinsTTG ENSP00000512270.1:p.Ile206=
ENST00000695949.1:c.536_538delinsTTG ENSP00000512281.1:p.Ile179=
ENST00000695957.1:c.*30_*32delinsTTG ENSP00000512286.1:n.*30_*32delinsTTG
ENST00000695991.1:c.217-1339_217-1337delinsTTG ENSP00000512314.1:n.217-1339_217-1337delinsTTG
ENST00000695992.1:c.539_541delinsTTG ENSP00000512315.1:p.Ile180=
ENST00000695993.1:c.539_541delinsTTG ENSP00000512316.1:p.Ile180=
ENST00000695994.1:c.539_541delinsTTG ENSP00000512317.1:p.Ile180=
ENST00000695995.1:c.217-1191_217-1189delinsTTG ENSP00000512318.1:n.217-1191_217-1189delinsTTG
ENST00000695996.1:n.610_612delinsTTG
ENST00000695997.1:n.494_496delinsTTG
ENST00000696003.1:n.631_633delinsTTG
ENST00000696004.1:n.631_633delinsTTG
ENST00000696005.1:c.61_63delinsTTG
ENST00000696006.1:c.539_541delinsTTG ENSP00000512325.1:p.Ile180=
ENST00000696007.1:c.390_392delinsTTG ENSP00000512326.1:n.390_392delinsTTG
ENST00000696008.1:n.1694_1696delinsTTG
ENST00000696009.1:n.1889_1891delinsTTG
ENST00000696017.1:c.536_538delinsTTG ENSP00000512333.1:p.Ile179=
ENST00000696034.1:c.539_541delinsTTG ENSP00000512343.1:p.Ile180=
ENST00000696035.1:n.649_651delinsTTG
ENST00000696036.1:n.1229_1231delinsTTG
ENST00000696037.1:n.2216_2218delinsTTG
ENST00000696038.1:c.*285_*287delinsTTG ENSP00000512344.1:n.*285_*287delinsTTG
ENST00000696039.1:n.827_829delinsTTG
ENST00000696058.1:c.539_541delinsTTG ENSP00000512361.1:p.Ile180=
ENST00000696059.1:c.*484_*486delinsTTG ENSP00000512362.1:n.*484_*486delinsTTG
ENST00000696060.1:c.539_541delinsTTG ENSP00000512363.1:p.Ile180=
ENST00000696061.1:c.536_538delinsTTG ENSP00000512364.1:p.Ile179=
ENST00000696062.1:c.602_604delinsTTG ENSP00000512365.1:p.Ile201=
ENST00000696063.1:c.614_616delinsTTG ENSP00000512366.1:p.Ile205=
ENST00000696064.1:c.386_388delinsTTG ENSP00000512367.1:p.Ile129=
ENST00000696065.1:c.66-1339_66-1337delinsTTG ENSP00000512368.1:n.66-1339_66-1337delinsTTG
ENST00000696074.1:n.155_157delinsTTG
ENST00000696075.1:c.*509_*511delinsTTG ENSP00000512374.1:n.*509_*511delinsTTG
ENST00000696076.1:c.539_541delinsTTG ENSP00000512375.1:p.Ile180=
ENST00000696077.1:c.536_538delinsTTG ENSP00000512376.1:p.Ile179=
ENST00000696078.1:c.539_541delinsTTG ENSP00000512377.1:p.Ile180=
ENST00000696079.1:c.539_541delinsTTG ENSP00000512378.1:p.Ile180=
ENST00000696080.1:c.539_541delinsTTG ENSP00000512379.1:p.Ile180=
ENST00000696081.1:n.658_660delinsTTG
ENST00000696082.1:c.617_619delinsTTG ENSP00000512380.1:p.Ile206=
ENST00000696083.1:n.1420_1422delinsTTG
ENST00000696084.1:n.640_642delinsTTG
ENST00000696104.1:c.363-1339_363-1337delinsTTG ENSP00000512399.1:n.363-1339_363-1337delinsTTG
ENST00000696105.1:c.*80_*82delinsTTG ENSP00000512400.1:n.*80_*82delinsTTG
ENST00000372874.9:c.539_541delinsTTG MANE Select ENSP00000361965.4:p.Ile180=
ENST00000372874.8:c.539_541delinsTTG ENSP00000361965.4:p.Ile180=
ENST00000464097.5:n.213_215delinsTTG
ENST00000492931.5:n.623_625delinsTTG
ENST00000536532.5:c.539_541delinsTTG ENSP00000440946.1:p.Ile180=
ENST00000537820.1:c.539_541delinsTTG ENSP00000441818.1:p.Ile180=
ENST00000539235.5:c.219-1191_219-1189delinsTTG ENSP00000446464.1:n.219-1191_219-1189delinsTTG
NM_000022.2:c.539_541delinsTTG , LRG_16t1:c.539_541delinsTTG NP_000013.2:p.Ile180=
XM_005260236.2:c.539_541delinsTTG XP_005260293.1:p.Ile180=
XM_011528478.1:c.134_136delinsTTG XP_011526780.1:p.Ile45=
XM_011528479.1:c.134_136delinsTTG XP_011526781.1:p.Ile45=
XR_244129.1:n.593_595delinsTTG
NM_000022.3:c.539_541delinsTTG NP_000013.2:p.Ile180=
NM_001322050.1:c.134_136delinsTTG NP_001308979.1:p.Ile45=
NM_001322051.1:c.539_541delinsTTG NP_001308980.1:p.Ile180=
NR_136160.1:n.690_692delinsTTG
NM_000022.4:c.539_541delinsTTG MANE Select NP_000013.2:p.Ile180=
NM_001322050.2:c.134_136delinsTTG NP_001308979.1:p.Ile45=
NM_001322051.2:c.539_541delinsTTG NP_001308980.1:p.Ile180=
NR_136160.2:n.631_633delinsTTG