Canonical Allele Identifier: CA2365854496

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620162_44620163delinsAG , CM000682.2:g.44620162_44620163delinsAG	GRCh38
NC_000020.10:g.43248803_43248804delinsAG , CM000682.1:g.43248803_43248804delinsAG	GRCh37
NC_000020.9:g.42682217_42682218delinsAG	NCBI36
NG_007385.1:g.36573_36574delinsCT , LRG_16:g.36573_36574delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+136_1245+137delinsCT (ADA)
ENST00000536076.2:c.925+136_925+137delinsCT (ADA)	ENSP00000512234.1:n.925+136_925+137delinsCT
ENST00000536532.6:c.*221+136_*221+137delinsCT (ADA)	ENSP00000440946.1:n.*221+136_*221+137delinsCT
ENST00000537820.2:c.1006+136_1006+137delinsCT (ADA)	ENSP00000441818.1:n.1006+136_1006+137delinsCT
ENST00000539235.6:c.*462+136_*462+137delinsCT (ADA)	ENSP00000446464.1:n.*462+136_*462+137delinsCT
ENST00000695889.1:c.553+136_553+137delinsCT (ADA)	ENSP00000512240.1:n.553+136_553+137delinsCT
ENST00000695890.1:n.5325_5326delinsCT (ADA)
ENST00000695891.1:c.618+136_618+137delinsCT (ADA)	ENSP00000512241.1:n.618+136_618+137delinsCT
ENST00000695927.1:c.1156+136_1156+137delinsCT (ADA)	ENSP00000512270.1:n.1156+136_1156+137delinsCT
ENST00000695949.1:c.1003+136_1003+137delinsCT (ADA)	ENSP00000512281.1:n.1003+136_1003+137delinsCT
ENST00000695956.1:c.233+136_233+137delinsCT (ADA)
ENST00000695957.1:c.*569+136_*569+137delinsCT (ADA)	ENSP00000512286.1:n.*569+136_*569+137delinsCT
ENST00000695991.1:c.616+136_616+137delinsCT (ADA)	ENSP00000512314.1:n.616+136_616+137delinsCT
ENST00000695992.1:c.*357_*358delinsCT (ADA)	ENSP00000512315.1:n.*357_*358delinsCT
ENST00000695993.1:c.1078+136_1078+137delinsCT (ADA)	ENSP00000512316.1:n.1078+136_1078+137delinsCT
ENST00000695994.1:c.*221+136_*221+137delinsCT (ADA)	ENSP00000512317.1:n.*221+136_*221+137delinsCT
ENST00000695995.1:c.688+136_688+137delinsCT (ADA)	ENSP00000512318.1:n.688+136_688+137delinsCT
ENST00000695996.1:n.1160+136_1160+137delinsCT (ADA)
ENST00000696003.1:n.2862+136_2862+137delinsCT (ADA)
ENST00000696004.1:n.1998_1999delinsCT (ADA)
ENST00000696005.1:c.664_665delinsCT (ADA)
ENST00000696006.1:c.*221+136_*221+137delinsCT (ADA)	ENSP00000512325.1:n.*221+136_*221+137delinsCT
ENST00000696007.1:c.1005+136_1005+137delinsCT (ADA)	ENSP00000512326.1:n.1005+136_1005+137delinsCT
ENST00000696008.1:n.3568_3569delinsCT (ADA)
ENST00000696017.1:c.1211_1212delinsCT (ADA)	ENSP00000512333.1:p.Pro404=
ENST00000696034.1:c.*221+136_*221+137delinsCT (ADA)	ENSP00000512343.1:n.*221+136_*221+137delinsCT
ENST00000696035.1:n.1400_1401delinsCT (ADA)
ENST00000696036.1:n.1915_1916delinsCT (ADA)
ENST00000696037.1:n.2755+136_2755+137delinsCT (ADA)
ENST00000696038.1:c.*971_*972delinsCT (ADA)	ENSP00000512344.1:n.*971_*972delinsCT
ENST00000696039.1:n.1442+136_1442+137delinsCT (ADA)
ENST00000696058.1:c.1075+136_1075+137delinsCT (ADA)	ENSP00000512361.1:n.1075+136_1075+137delinsCT
ENST00000696059.1:c.*1023+136_*1023+137delinsCT (ADA)	ENSP00000512362.1:n.*1023+136_*1023+137delinsCT
ENST00000696060.1:c.1147+136_1147+137delinsCT (ADA)	ENSP00000512363.1:n.1147+136_1147+137delinsCT
ENST00000696061.1:c.1075+136_1075+137delinsCT (ADA)	ENSP00000512364.1:n.1075+136_1075+137delinsCT
ENST00000696062.1:c.1141+136_1141+137delinsCT (ADA)	ENSP00000512365.1:n.1141+136_1141+137delinsCT
ENST00000696063.1:c.1153+136_1153+137delinsCT (ADA)	ENSP00000512366.1:n.1153+136_1153+137delinsCT
ENST00000696064.1:c.925+136_925+137delinsCT (ADA)	ENSP00000512367.1:n.925+136_925+137delinsCT
ENST00000696065.1:c.400+136_400+137delinsCT (ADA)	ENSP00000512368.1:n.400+136_400+137delinsCT
ENST00000696072.1:n.569_570delinsCT (ADA)
ENST00000696073.1:n.1389+136_1389+137delinsCT (ADA)
ENST00000696074.1:n.629+136_629+137delinsCT (ADA)
ENST00000696075.1:c.*1048+136_*1048+137delinsCT (ADA)	ENSP00000512374.1:n.*1048+136_*1048+137delinsCT
ENST00000696076.1:c.1283_1284delinsCT (ADA)	ENSP00000512375.1:p.Pro428=
ENST00000696077.1:c.1072+136_1072+137delinsCT (ADA)	ENSP00000512376.1:n.1072+136_1072+137delinsCT
ENST00000696078.1:c.1075+136_1075+137delinsCT (ADA)	ENSP00000512377.1:n.1075+136_1075+137delinsCT
ENST00000696079.1:c.1075+136_1075+137delinsCT (ADA)	ENSP00000512378.1:n.1075+136_1075+137delinsCT
ENST00000696080.1:c.1078+136_1078+137delinsCT (ADA)	ENSP00000512379.1:n.1078+136_1078+137delinsCT
ENST00000696081.1:n.1333_1334delinsCT (ADA)
ENST00000696082.1:c.1153+136_1153+137delinsCT (ADA)	ENSP00000512380.1:n.1153+136_1153+137delinsCT
ENST00000696083.1:n.2035+136_2035+137delinsCT (ADA)
ENST00000696084.1:n.1391_1392delinsCT (ADA)
ENST00000696104.1:c.*147+136_*147+137delinsCT (ADA)	ENSP00000512399.1:n.*147+136_*147+137delinsCT
ENST00000372874.9:c.1078+136_1078+137delinsCT (ADA) MANE Select	ENSP00000361965.4:n.1078+136_1078+137delinsCT
ENST00000372874.8:c.1078+136_1078+137delinsCT (ADA)	ENSP00000361965.4:n.1078+136_1078+137delinsCT
ENST00000372887.5:c.152-3771_152-3770delinsAG (PKIG)	ENSP00000361978.1:n.152-3771_152-3770delinsAG
ENST00000464097.5:n.1444+136_1444+137delinsCT (ADA)
ENST00000492931.5:n.1238+136_1238+137delinsCT (ADA)
ENST00000536532.5:c.*221+136_*221+137delinsCT (ADA)	ENSP00000440946.1:n.*221+136_*221+137delinsCT
ENST00000537820.1:c.1006+136_1006+137delinsCT (ADA)	ENSP00000441818.1:n.1006+136_1006+137delinsCT
ENST00000539235.5:c.*462+136_*462+137delinsCT (ADA)	ENSP00000446464.1:n.*462+136_*462+137delinsCT
NM_000022.2:c.1078+136_1078+137delinsCT , LRG_16t1:c.1078+136_1078+137delinsCT (ADA)	NP_000013.2:n.1078+136_1078+137delinsCT
XM_005260236.2:c.1006+136_1006+137delinsCT (ADA)	XP_005260293.1:n.1006+136_1006+137delinsCT
XM_011528478.1:c.673+136_673+137delinsCT (ADA)	XP_011526780.1:n.673+136_673+137delinsCT
XM_011528479.1:c.673+136_673+137delinsCT (ADA)	XP_011526781.1:n.673+136_673+137delinsCT
XR_244129.1:n.1067+136_1067+137delinsCT (ADA)
NM_000022.3:c.1078+136_1078+137delinsCT (ADA)	NP_000013.2:n.1078+136_1078+137delinsCT
NM_001322050.1:c.673+136_673+137delinsCT (ADA)	NP_001308979.1:n.673+136_673+137delinsCT
NM_001322051.1:c.1006+136_1006+137delinsCT (ADA)	NP_001308980.1:n.1006+136_1006+137delinsCT
NR_136160.1:n.1164+136_1164+137delinsCT (ADA)
NM_000022.4:c.1078+136_1078+137delinsCT (ADA) MANE Select	NP_000013.2:n.1078+136_1078+137delinsCT
NM_001322050.2:c.673+136_673+137delinsCT (ADA)	NP_001308979.1:n.673+136_673+137delinsCT
NM_001322051.2:c.1006+136_1006+137delinsCT (ADA)	NP_001308980.1:n.1006+136_1006+137delinsCT
NR_136160.2:n.1105+136_1105+137delinsCT (ADA)