Canonical Allele Identifier: CA2365854434

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44620024C= , CM000682.2:g.44620024C= GRCh38
NC_000020.10:g.43248665C= , CM000682.1:g.43248665C= GRCh37
NC_000020.9:g.42682079C= NCBI36
NG_007385.1:g.36712G= , LRG_16:g.36712G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.1246-177G= (ADA)
ENST00000536076.2:c.926-177G= (ADA) ENSP00000512234.1:n.926-177G=
ENST00000536532.6:c.*222-177G= (ADA) ENSP00000440946.1:n.*222-177G=
ENST00000537820.2:c.1007-177G= (ADA) ENSP00000441818.1:n.1007-177G=
ENST00000539235.6:c.*463-177G= (ADA) ENSP00000446464.1:n.*463-177G=
ENST00000695889.1:c.554-177G= (ADA) ENSP00000512240.1:n.554-177G=
ENST00000695890.1:n.5464G= (ADA)
ENST00000695891.1:c.619-177G= (ADA) ENSP00000512241.1:n.619-177G=
ENST00000695927.1:c.1157-177G= (ADA) ENSP00000512270.1:n.1157-177G=
ENST00000695949.1:c.1004-177G= (ADA) ENSP00000512281.1:n.1004-177G=
ENST00000695956.1:c.234-164G= (ADA)
ENST00000695957.1:c.*570-177G= (ADA) ENSP00000512286.1:n.*570-177G=
ENST00000695991.1:c.617-177G= (ADA) ENSP00000512314.1:n.617-177G=
ENST00000695992.1:c.*496G= (ADA) ENSP00000512315.1:n.*496G=
ENST00000695993.1:c.1079-79G= (ADA) ENSP00000512316.1:n.1079-79G=
ENST00000695994.1:c.*222-177G= (ADA) ENSP00000512317.1:n.*222-177G=
ENST00000695995.1:c.689-177G= (ADA) ENSP00000512318.1:n.689-177G=
ENST00000695996.1:n.1161-177G= (ADA)
ENST00000696003.1:n.2863-177G= (ADA)
ENST00000696004.1:n.2137G= (ADA)
ENST00000696005.1:c.803G= (ADA)
ENST00000696006.1:c.*222-177G= (ADA) ENSP00000512325.1:n.*222-177G=
ENST00000696007.1:c.1006-177G= (ADA) ENSP00000512326.1:n.1006-177G=
ENST00000696008.1:n.3707G= (ADA)
ENST00000696017.1:c.*96G= (ADA) ENSP00000512333.1:n.*96G=
ENST00000696034.1:c.*221+275G= (ADA) ENSP00000512343.1:n.*221+275G=
ENST00000696035.1:n.1539G= (ADA)
ENST00000696036.1:n.2054G= (ADA)
ENST00000696037.1:n.2756-177G= (ADA)
ENST00000696038.1:c.*1110G= (ADA) ENSP00000512344.1:n.*1110G=
ENST00000696039.1:n.1443-177G= (ADA)
ENST00000696058.1:c.1076-79G= (ADA) ENSP00000512361.1:n.1076-79G=
ENST00000696059.1:c.*1024-177G= (ADA) ENSP00000512362.1:n.*1024-177G=
ENST00000696060.1:c.1148-177G= (ADA) ENSP00000512363.1:n.1148-177G=
ENST00000696061.1:c.1076-177G= (ADA) ENSP00000512364.1:n.1076-177G=
ENST00000696062.1:c.1142-177G= (ADA) ENSP00000512365.1:n.1142-177G=
ENST00000696063.1:c.1154-177G= (ADA) ENSP00000512366.1:n.1154-177G=
ENST00000696064.1:c.926-177G= (ADA) ENSP00000512367.1:n.926-177G=
ENST00000696065.1:c.401-177G= (ADA) ENSP00000512368.1:n.401-177G=
ENST00000696072.1:n.708G= (ADA)
ENST00000696073.1:n.1390-177G= (ADA)
ENST00000696074.1:n.630-177G= (ADA)
ENST00000696075.1:c.*1049-177G= (ADA) ENSP00000512374.1:n.*1049-177G=
ENST00000696076.1:c.*96G= (ADA) ENSP00000512375.1:n.*96G=
ENST00000696077.1:c.1073-177G= (ADA) ENSP00000512376.1:n.1073-177G=
ENST00000696078.1:c.1076-177G= (ADA) ENSP00000512377.1:n.1076-177G=
ENST00000696079.1:c.1076-182G= (ADA) ENSP00000512378.1:n.1076-182G=
ENST00000696080.1:c.1079-182G= (ADA) ENSP00000512379.1:n.1079-182G=
ENST00000696081.1:n.1472G= (ADA)
ENST00000696082.1:c.1154-177G= (ADA) ENSP00000512380.1:n.1154-177G=
ENST00000696083.1:n.2036-177G= (ADA)
ENST00000696084.1:n.1530G= (ADA)
ENST00000696104.1:c.*148-177G= (ADA) ENSP00000512399.1:n.*148-177G=
ENST00000372874.9:c.1079-177G= (ADA) MANE Select ENSP00000361965.4:n.1079-177G=
ENST00000372874.8:c.1079-177G= (ADA) ENSP00000361965.4:n.1079-177G=
ENST00000372887.5:c.152-3909C= (PKIG) ENSP00000361978.1:n.152-3909C=
ENST00000464097.5:n.1445-177G= (ADA)
ENST00000492931.5:n.1239-177G= (ADA)
ENST00000536532.5:c.*222-177G= (ADA) ENSP00000440946.1:n.*222-177G=
ENST00000537820.1:c.1007-177G= (ADA) ENSP00000441818.1:n.1007-177G=
ENST00000539235.5:c.*463-177G= (ADA) ENSP00000446464.1:n.*463-177G=
NM_000022.2:c.1079-177G= , LRG_16t1:c.1079-177G= (ADA) NP_000013.2:n.1079-177G=
XM_005260236.2:c.1007-177G= (ADA) XP_005260293.1:n.1007-177G=
XM_011528478.1:c.674-177G= (ADA) XP_011526780.1:n.674-177G=
XM_011528479.1:c.674-177G= (ADA) XP_011526781.1:n.674-177G=
XR_244129.1:n.1068-177G= (ADA)
NM_000022.3:c.1079-177G= (ADA) NP_000013.2:n.1079-177G=
NM_001322050.1:c.674-177G= (ADA) NP_001308979.1:n.674-177G=
NM_001322051.1:c.1007-177G= (ADA) NP_001308980.1:n.1007-177G=
NR_136160.1:n.1165-177G= (ADA)
NM_000022.4:c.1079-177G= (ADA) MANE Select NP_000013.2:n.1079-177G=
NM_001322050.2:c.674-177G= (ADA) NP_001308979.1:n.674-177G=
NM_001322051.2:c.1007-177G= (ADA) NP_001308980.1:n.1007-177G=
NR_136160.2:n.1106-177G= (ADA)