Canonical Allele Identifier: CA2365854571

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44620273G= , CM000682.2:g.44620273G= GRCh38
NC_000020.10:g.43248914G= , CM000682.1:g.43248914G= GRCh37
NC_000020.9:g.42682328G= NCBI36
NG_007385.1:g.36463C= , LRG_16:g.36463C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.1245+26C= (ADA)
ENST00000536076.2:c.925+26C= (ADA) ENSP00000512234.1:n.925+26C=
ENST00000536532.6:c.*221+26C= (ADA) ENSP00000440946.1:n.*221+26C=
ENST00000537820.2:c.1006+26C= (ADA) ENSP00000441818.1:n.1006+26C=
ENST00000539235.6:c.*462+26C= (ADA) ENSP00000446464.1:n.*462+26C=
ENST00000695889.1:c.553+26C= (ADA) ENSP00000512240.1:n.553+26C=
ENST00000695890.1:n.5215C= (ADA)
ENST00000695891.1:c.618+26C= (ADA) ENSP00000512241.1:n.618+26C=
ENST00000695927.1:c.1156+26C= (ADA) ENSP00000512270.1:n.1156+26C=
ENST00000695949.1:c.1003+26C= (ADA) ENSP00000512281.1:n.1003+26C=
ENST00000695956.1:c.233+26C= (ADA)
ENST00000695957.1:c.*569+26C= (ADA) ENSP00000512286.1:n.*569+26C=
ENST00000695991.1:c.616+26C= (ADA) ENSP00000512314.1:n.616+26C=
ENST00000695992.1:c.*247C= (ADA) ENSP00000512315.1:n.*247C=
ENST00000695993.1:c.1078+26C= (ADA) ENSP00000512316.1:n.1078+26C=
ENST00000695994.1:c.*221+26C= (ADA) ENSP00000512317.1:n.*221+26C=
ENST00000695995.1:c.688+26C= (ADA) ENSP00000512318.1:n.688+26C=
ENST00000695996.1:n.1160+26C= (ADA)
ENST00000696003.1:n.2862+26C= (ADA)
ENST00000696004.1:n.1888C= (ADA)
ENST00000696005.1:c.554C= (ADA)
ENST00000696006.1:c.*221+26C= (ADA) ENSP00000512325.1:n.*221+26C=
ENST00000696007.1:c.1005+26C= (ADA) ENSP00000512326.1:n.1005+26C=
ENST00000696008.1:n.3458C= (ADA)
ENST00000696017.1:c.1101C= (ADA) ENSP00000512333.1:p.Gly367=
ENST00000696034.1:c.*221+26C= (ADA) ENSP00000512343.1:n.*221+26C=
ENST00000696035.1:n.1290C= (ADA)
ENST00000696036.1:n.1805C= (ADA)
ENST00000696037.1:n.2755+26C= (ADA)
ENST00000696038.1:c.*861C= (ADA) ENSP00000512344.1:n.*861C=
ENST00000696039.1:n.1442+26C= (ADA)
ENST00000696058.1:c.1075+26C= (ADA) ENSP00000512361.1:n.1075+26C=
ENST00000696059.1:c.*1023+26C= (ADA) ENSP00000512362.1:n.*1023+26C=
ENST00000696060.1:c.1147+26C= (ADA) ENSP00000512363.1:n.1147+26C=
ENST00000696061.1:c.1075+26C= (ADA) ENSP00000512364.1:n.1075+26C=
ENST00000696062.1:c.1141+26C= (ADA) ENSP00000512365.1:n.1141+26C=
ENST00000696063.1:c.1153+26C= (ADA) ENSP00000512366.1:n.1153+26C=
ENST00000696064.1:c.925+26C= (ADA) ENSP00000512367.1:n.925+26C=
ENST00000696065.1:c.400+26C= (ADA) ENSP00000512368.1:n.400+26C=
ENST00000696072.1:n.459C= (ADA)
ENST00000696073.1:n.1389+26C= (ADA)
ENST00000696074.1:n.629+26C= (ADA)
ENST00000696075.1:c.*1048+26C= (ADA) ENSP00000512374.1:n.*1048+26C=
ENST00000696076.1:c.1173C= (ADA) ENSP00000512375.1:p.Gly391=
ENST00000696077.1:c.1072+26C= (ADA) ENSP00000512376.1:n.1072+26C=
ENST00000696078.1:c.1075+26C= (ADA) ENSP00000512377.1:n.1075+26C=
ENST00000696079.1:c.1075+26C= (ADA) ENSP00000512378.1:n.1075+26C=
ENST00000696080.1:c.1078+26C= (ADA) ENSP00000512379.1:n.1078+26C=
ENST00000696081.1:n.1223C= (ADA)
ENST00000696082.1:c.1153+26C= (ADA) ENSP00000512380.1:n.1153+26C=
ENST00000696083.1:n.2035+26C= (ADA)
ENST00000696084.1:n.1281C= (ADA)
ENST00000696104.1:c.*147+26C= (ADA) ENSP00000512399.1:n.*147+26C=
ENST00000372874.9:c.1078+26C= (ADA) MANE Select ENSP00000361965.4:n.1078+26C=
ENST00000372874.8:c.1078+26C= (ADA) ENSP00000361965.4:n.1078+26C=
ENST00000372887.5:c.152-3660G= (PKIG) ENSP00000361978.1:n.152-3660G=
ENST00000464097.5:n.1444+26C= (ADA)
ENST00000492931.5:n.1238+26C= (ADA)
ENST00000536532.5:c.*221+26C= (ADA) ENSP00000440946.1:n.*221+26C=
ENST00000537820.1:c.1006+26C= (ADA) ENSP00000441818.1:n.1006+26C=
ENST00000539235.5:c.*462+26C= (ADA) ENSP00000446464.1:n.*462+26C=
NM_000022.2:c.1078+26C= , LRG_16t1:c.1078+26C= (ADA) NP_000013.2:n.1078+26C=
XM_005260236.2:c.1006+26C= (ADA) XP_005260293.1:n.1006+26C=
XM_011528478.1:c.673+26C= (ADA) XP_011526780.1:n.673+26C=
XM_011528479.1:c.673+26C= (ADA) XP_011526781.1:n.673+26C=
XR_244129.1:n.1067+26C= (ADA)
NM_000022.3:c.1078+26C= (ADA) NP_000013.2:n.1078+26C=
NM_001322050.1:c.673+26C= (ADA) NP_001308979.1:n.673+26C=
NM_001322051.1:c.1006+26C= (ADA) NP_001308980.1:n.1006+26C=
NR_136160.1:n.1164+26C= (ADA)
NM_000022.4:c.1078+26C= (ADA) MANE Select NP_000013.2:n.1078+26C=
NM_001322050.2:c.673+26C= (ADA) NP_001308979.1:n.673+26C=
NM_001322051.2:c.1006+26C= (ADA) NP_001308980.1:n.1006+26C=
NR_136160.2:n.1105+26C= (ADA)