Canonical Allele Identifier: CA2365854516

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620186_44620187delinsCA , CM000682.2:g.44620186_44620187delinsCA	GRCh38
NC_000020.10:g.43248827_43248828delinsCA , CM000682.1:g.43248827_43248828delinsCA	GRCh37
NC_000020.9:g.42682241_42682242delinsCA	NCBI36
NG_007385.1:g.36549_36550delinsTG , LRG_16:g.36549_36550delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+112_1245+113delinsTG (ADA)
ENST00000536076.2:c.925+112_925+113delinsTG (ADA)	ENSP00000512234.1:n.925+112_925+113delinsTG
ENST00000536532.6:c.*221+112_*221+113delinsTG (ADA)	ENSP00000440946.1:n.*221+112_*221+113delinsTG
ENST00000537820.2:c.1006+112_1006+113delinsTG (ADA)	ENSP00000441818.1:n.1006+112_1006+113delinsTG
ENST00000539235.6:c.*462+112_*462+113delinsTG (ADA)	ENSP00000446464.1:n.*462+112_*462+113delinsTG
ENST00000695889.1:c.553+112_553+113delinsTG (ADA)	ENSP00000512240.1:n.553+112_553+113delinsTG
ENST00000695890.1:n.5301_5302delinsTG (ADA)
ENST00000695891.1:c.618+112_618+113delinsTG (ADA)	ENSP00000512241.1:n.618+112_618+113delinsTG
ENST00000695927.1:c.1156+112_1156+113delinsTG (ADA)	ENSP00000512270.1:n.1156+112_1156+113delinsTG
ENST00000695949.1:c.1003+112_1003+113delinsTG (ADA)	ENSP00000512281.1:n.1003+112_1003+113delinsTG
ENST00000695956.1:c.233+112_233+113delinsTG (ADA)
ENST00000695957.1:c.*569+112_*569+113delinsTG (ADA)	ENSP00000512286.1:n.*569+112_*569+113delinsTG
ENST00000695991.1:c.616+112_616+113delinsTG (ADA)	ENSP00000512314.1:n.616+112_616+113delinsTG
ENST00000695992.1:c.*333_*334delinsTG (ADA)	ENSP00000512315.1:n.*333_*334delinsTG
ENST00000695993.1:c.1078+112_1078+113delinsTG (ADA)	ENSP00000512316.1:n.1078+112_1078+113delinsTG
ENST00000695994.1:c.*221+112_*221+113delinsTG (ADA)	ENSP00000512317.1:n.*221+112_*221+113delinsTG
ENST00000695995.1:c.688+112_688+113delinsTG (ADA)	ENSP00000512318.1:n.688+112_688+113delinsTG
ENST00000695996.1:n.1160+112_1160+113delinsTG (ADA)
ENST00000696003.1:n.2862+112_2862+113delinsTG (ADA)
ENST00000696004.1:n.1974_1975delinsTG (ADA)
ENST00000696005.1:c.640_641delinsTG (ADA)
ENST00000696006.1:c.*221+112_*221+113delinsTG (ADA)	ENSP00000512325.1:n.*221+112_*221+113delinsTG
ENST00000696007.1:c.1005+112_1005+113delinsTG (ADA)	ENSP00000512326.1:n.1005+112_1005+113delinsTG
ENST00000696008.1:n.3544_3545delinsTG (ADA)
ENST00000696017.1:c.1187_1188delinsTG (ADA)	ENSP00000512333.1:p.Val396=
ENST00000696034.1:c.*221+112_*221+113delinsTG (ADA)	ENSP00000512343.1:n.*221+112_*221+113delinsTG
ENST00000696035.1:n.1376_1377delinsTG (ADA)
ENST00000696036.1:n.1891_1892delinsTG (ADA)
ENST00000696037.1:n.2755+112_2755+113delinsTG (ADA)
ENST00000696038.1:c.*947_*948delinsTG (ADA)	ENSP00000512344.1:n.*947_*948delinsTG
ENST00000696039.1:n.1442+112_1442+113delinsTG (ADA)
ENST00000696058.1:c.1075+112_1075+113delinsTG (ADA)	ENSP00000512361.1:n.1075+112_1075+113delinsTG
ENST00000696059.1:c.*1023+112_*1023+113delinsTG (ADA)	ENSP00000512362.1:n.*1023+112_*1023+113delinsTG
ENST00000696060.1:c.1147+112_1147+113delinsTG (ADA)	ENSP00000512363.1:n.1147+112_1147+113delinsTG
ENST00000696061.1:c.1075+112_1075+113delinsTG (ADA)	ENSP00000512364.1:n.1075+112_1075+113delinsTG
ENST00000696062.1:c.1141+112_1141+113delinsTG (ADA)	ENSP00000512365.1:n.1141+112_1141+113delinsTG
ENST00000696063.1:c.1153+112_1153+113delinsTG (ADA)	ENSP00000512366.1:n.1153+112_1153+113delinsTG
ENST00000696064.1:c.925+112_925+113delinsTG (ADA)	ENSP00000512367.1:n.925+112_925+113delinsTG
ENST00000696065.1:c.400+112_400+113delinsTG (ADA)	ENSP00000512368.1:n.400+112_400+113delinsTG
ENST00000696072.1:n.545_546delinsTG (ADA)
ENST00000696073.1:n.1389+112_1389+113delinsTG (ADA)
ENST00000696074.1:n.629+112_629+113delinsTG (ADA)
ENST00000696075.1:c.*1048+112_*1048+113delinsTG (ADA)	ENSP00000512374.1:n.*1048+112_*1048+113delinsTG
ENST00000696076.1:c.1259_1260delinsTG (ADA)	ENSP00000512375.1:p.Val420=
ENST00000696077.1:c.1072+112_1072+113delinsTG (ADA)	ENSP00000512376.1:n.1072+112_1072+113delinsTG
ENST00000696078.1:c.1075+112_1075+113delinsTG (ADA)	ENSP00000512377.1:n.1075+112_1075+113delinsTG
ENST00000696079.1:c.1075+112_1075+113delinsTG (ADA)	ENSP00000512378.1:n.1075+112_1075+113delinsTG
ENST00000696080.1:c.1078+112_1078+113delinsTG (ADA)	ENSP00000512379.1:n.1078+112_1078+113delinsTG
ENST00000696081.1:n.1309_1310delinsTG (ADA)
ENST00000696082.1:c.1153+112_1153+113delinsTG (ADA)	ENSP00000512380.1:n.1153+112_1153+113delinsTG
ENST00000696083.1:n.2035+112_2035+113delinsTG (ADA)
ENST00000696084.1:n.1367_1368delinsTG (ADA)
ENST00000696104.1:c.*147+112_*147+113delinsTG (ADA)	ENSP00000512399.1:n.*147+112_*147+113delinsTG
ENST00000372874.9:c.1078+112_1078+113delinsTG (ADA) MANE Select	ENSP00000361965.4:n.1078+112_1078+113delinsTG
ENST00000372874.8:c.1078+112_1078+113delinsTG (ADA)	ENSP00000361965.4:n.1078+112_1078+113delinsTG
ENST00000372887.5:c.152-3747_152-3746delinsCA (PKIG)	ENSP00000361978.1:n.152-3747_152-3746delinsCA
ENST00000464097.5:n.1444+112_1444+113delinsTG (ADA)
ENST00000492931.5:n.1238+112_1238+113delinsTG (ADA)
ENST00000536532.5:c.*221+112_*221+113delinsTG (ADA)	ENSP00000440946.1:n.*221+112_*221+113delinsTG
ENST00000537820.1:c.1006+112_1006+113delinsTG (ADA)	ENSP00000441818.1:n.1006+112_1006+113delinsTG
ENST00000539235.5:c.*462+112_*462+113delinsTG (ADA)	ENSP00000446464.1:n.*462+112_*462+113delinsTG
NM_000022.2:c.1078+112_1078+113delinsTG , LRG_16t1:c.1078+112_1078+113delinsTG (ADA)	NP_000013.2:n.1078+112_1078+113delinsTG
XM_005260236.2:c.1006+112_1006+113delinsTG (ADA)	XP_005260293.1:n.1006+112_1006+113delinsTG
XM_011528478.1:c.673+112_673+113delinsTG (ADA)	XP_011526780.1:n.673+112_673+113delinsTG
XM_011528479.1:c.673+112_673+113delinsTG (ADA)	XP_011526781.1:n.673+112_673+113delinsTG
XR_244129.1:n.1067+112_1067+113delinsTG (ADA)
NM_000022.3:c.1078+112_1078+113delinsTG (ADA)	NP_000013.2:n.1078+112_1078+113delinsTG
NM_001322050.1:c.673+112_673+113delinsTG (ADA)	NP_001308979.1:n.673+112_673+113delinsTG
NM_001322051.1:c.1006+112_1006+113delinsTG (ADA)	NP_001308980.1:n.1006+112_1006+113delinsTG
NR_136160.1:n.1164+112_1164+113delinsTG (ADA)
NM_000022.4:c.1078+112_1078+113delinsTG (ADA) MANE Select	NP_000013.2:n.1078+112_1078+113delinsTG
NM_001322050.2:c.673+112_673+113delinsTG (ADA)	NP_001308979.1:n.673+112_673+113delinsTG
NM_001322051.2:c.1006+112_1006+113delinsTG (ADA)	NP_001308980.1:n.1006+112_1006+113delinsTG
NR_136160.2:n.1105+112_1105+113delinsTG (ADA)