Canonical Allele Identifier: CA2365854470

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620106_44620108delinsCCT , CM000682.2:g.44620106_44620108delinsCCT	GRCh38
NC_000020.10:g.43248747_43248749delinsCCT , CM000682.1:g.43248747_43248749delinsCCT	GRCh37
NC_000020.9:g.42682161_42682163delinsCCT	NCBI36
NG_007385.1:g.36628_36630delinsAGG , LRG_16:g.36628_36630delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+191_1245+193delinsAGG (ADA)
ENST00000536076.2:c.925+191_925+193delinsAGG (ADA)	ENSP00000512234.1:n.925+191_925+193delinsAGG
ENST00000536532.6:c.*221+191_*221+193delinsAGG (ADA)	ENSP00000440946.1:n.*221+191_*221+193delinsAGG
ENST00000537820.2:c.1006+191_1006+193delinsAGG (ADA)	ENSP00000441818.1:n.1006+191_1006+193delinsAGG
ENST00000539235.6:c.*462+191_*462+193delinsAGG (ADA)	ENSP00000446464.1:n.*462+191_*462+193delinsAGG
ENST00000695889.1:c.553+191_553+193delinsAGG (ADA)	ENSP00000512240.1:n.553+191_553+193delinsAGG
ENST00000695890.1:n.5380_5382delinsAGG (ADA)
ENST00000695891.1:c.618+191_618+193delinsAGG (ADA)	ENSP00000512241.1:n.618+191_618+193delinsAGG
ENST00000695927.1:c.1156+191_1156+193delinsAGG (ADA)	ENSP00000512270.1:n.1156+191_1156+193delinsAGG
ENST00000695949.1:c.1003+191_1003+193delinsAGG (ADA)	ENSP00000512281.1:n.1003+191_1003+193delinsAGG
ENST00000695956.1:c.233+191_233+193delinsAGG (ADA)
ENST00000695957.1:c.*569+191_*569+193delinsAGG (ADA)	ENSP00000512286.1:n.*569+191_*569+193delinsAGG
ENST00000695991.1:c.616+191_616+193delinsAGG (ADA)	ENSP00000512314.1:n.616+191_616+193delinsAGG
ENST00000695992.1:c.*412_*414delinsAGG (ADA)	ENSP00000512315.1:n.*412_*414delinsAGG
ENST00000695993.1:c.1079-163_1079-161delinsAGG (ADA)	ENSP00000512316.1:n.1079-163_1079-161delinsAGG
ENST00000695994.1:c.*221+191_*221+193delinsAGG (ADA)	ENSP00000512317.1:n.*221+191_*221+193delinsAGG
ENST00000695995.1:c.688+191_688+193delinsAGG (ADA)	ENSP00000512318.1:n.688+191_688+193delinsAGG
ENST00000695996.1:n.1160+191_1160+193delinsAGG (ADA)
ENST00000696003.1:n.2862+191_2862+193delinsAGG (ADA)
ENST00000696004.1:n.2053_2055delinsAGG (ADA)
ENST00000696005.1:c.719_721delinsAGG (ADA)
ENST00000696006.1:c.*221+191_*221+193delinsAGG (ADA)	ENSP00000512325.1:n.*221+191_*221+193delinsAGG
ENST00000696007.1:c.1005+191_1005+193delinsAGG (ADA)	ENSP00000512326.1:n.1005+191_1005+193delinsAGG
ENST00000696008.1:n.3623_3625delinsAGG (ADA)
ENST00000696017.1:c.*12_*14delinsAGG (ADA)	ENSP00000512333.1:n.*12_*14delinsAGG
ENST00000696034.1:c.*221+191_*221+193delinsAGG (ADA)	ENSP00000512343.1:n.*221+191_*221+193delinsAGG
ENST00000696035.1:n.1455_1457delinsAGG (ADA)
ENST00000696036.1:n.1970_1972delinsAGG (ADA)
ENST00000696037.1:n.2755+191_2755+193delinsAGG (ADA)
ENST00000696038.1:c.*1026_*1028delinsAGG (ADA)	ENSP00000512344.1:n.*1026_*1028delinsAGG
ENST00000696039.1:n.1442+191_1442+193delinsAGG (ADA)
ENST00000696058.1:c.1076-163_1076-161delinsAGG (ADA)	ENSP00000512361.1:n.1076-163_1076-161delinsAGG
ENST00000696059.1:c.*1023+191_*1023+193delinsAGG (ADA)	ENSP00000512362.1:n.*1023+191_*1023+193delinsAGG
ENST00000696060.1:c.1147+191_1147+193delinsAGG (ADA)	ENSP00000512363.1:n.1147+191_1147+193delinsAGG
ENST00000696061.1:c.1075+191_1075+193delinsAGG (ADA)	ENSP00000512364.1:n.1075+191_1075+193delinsAGG
ENST00000696062.1:c.1141+191_1141+193delinsAGG (ADA)	ENSP00000512365.1:n.1141+191_1141+193delinsAGG
ENST00000696063.1:c.1153+191_1153+193delinsAGG (ADA)	ENSP00000512366.1:n.1153+191_1153+193delinsAGG
ENST00000696064.1:c.925+191_925+193delinsAGG (ADA)	ENSP00000512367.1:n.925+191_925+193delinsAGG
ENST00000696065.1:c.400+191_400+193delinsAGG (ADA)	ENSP00000512368.1:n.400+191_400+193delinsAGG
ENST00000696072.1:n.624_626delinsAGG (ADA)
ENST00000696073.1:n.1389+191_1389+193delinsAGG (ADA)
ENST00000696074.1:n.629+191_629+193delinsAGG (ADA)
ENST00000696075.1:c.*1048+191_*1048+193delinsAGG (ADA)	ENSP00000512374.1:n.*1048+191_*1048+193delinsAGG
ENST00000696076.1:c.*12_*14delinsAGG (ADA)	ENSP00000512375.1:n.*12_*14delinsAGG
ENST00000696077.1:c.1072+191_1072+193delinsAGG (ADA)	ENSP00000512376.1:n.1072+191_1072+193delinsAGG
ENST00000696078.1:c.1075+191_1075+193delinsAGG (ADA)	ENSP00000512377.1:n.1075+191_1075+193delinsAGG
ENST00000696079.1:c.1075+191_1075+193delinsAGG (ADA)	ENSP00000512378.1:n.1075+191_1075+193delinsAGG
ENST00000696080.1:c.1078+191_1078+193delinsAGG (ADA)	ENSP00000512379.1:n.1078+191_1078+193delinsAGG
ENST00000696081.1:n.1388_1390delinsAGG (ADA)
ENST00000696082.1:c.1153+191_1153+193delinsAGG (ADA)	ENSP00000512380.1:n.1153+191_1153+193delinsAGG
ENST00000696083.1:n.2035+191_2035+193delinsAGG (ADA)
ENST00000696084.1:n.1446_1448delinsAGG (ADA)
ENST00000696104.1:c.*147+191_*147+193delinsAGG (ADA)	ENSP00000512399.1:n.*147+191_*147+193delinsAGG
ENST00000372874.9:c.1078+191_1078+193delinsAGG (ADA) MANE Select	ENSP00000361965.4:n.1078+191_1078+193delinsAGG
ENST00000372874.8:c.1078+191_1078+193delinsAGG (ADA)	ENSP00000361965.4:n.1078+191_1078+193delinsAGG
ENST00000372887.5:c.152-3827_152-3825delinsCCT (PKIG)	ENSP00000361978.1:n.152-3827_152-3825delinsCCT
ENST00000464097.5:n.1444+191_1444+193delinsAGG (ADA)
ENST00000492931.5:n.1238+191_1238+193delinsAGG (ADA)
ENST00000536532.5:c.*221+191_*221+193delinsAGG (ADA)	ENSP00000440946.1:n.*221+191_*221+193delinsAGG
ENST00000537820.1:c.1006+191_1006+193delinsAGG (ADA)	ENSP00000441818.1:n.1006+191_1006+193delinsAGG
ENST00000539235.5:c.*462+191_*462+193delinsAGG (ADA)	ENSP00000446464.1:n.*462+191_*462+193delinsAGG
NM_000022.2:c.1078+191_1078+193delinsAGG , LRG_16t1:c.1078+191_1078+193delinsAGG (ADA)	NP_000013.2:n.1078+191_1078+193delinsAGG
XM_005260236.2:c.1006+191_1006+193delinsAGG (ADA)	XP_005260293.1:n.1006+191_1006+193delinsAGG
XM_011528478.1:c.673+191_673+193delinsAGG (ADA)	XP_011526780.1:n.673+191_673+193delinsAGG
XM_011528479.1:c.673+191_673+193delinsAGG (ADA)	XP_011526781.1:n.673+191_673+193delinsAGG
XR_244129.1:n.1067+191_1067+193delinsAGG (ADA)
NM_000022.3:c.1078+191_1078+193delinsAGG (ADA)	NP_000013.2:n.1078+191_1078+193delinsAGG
NM_001322050.1:c.673+191_673+193delinsAGG (ADA)	NP_001308979.1:n.673+191_673+193delinsAGG
NM_001322051.1:c.1006+191_1006+193delinsAGG (ADA)	NP_001308980.1:n.1006+191_1006+193delinsAGG
NR_136160.1:n.1164+191_1164+193delinsAGG (ADA)
NM_000022.4:c.1078+191_1078+193delinsAGG (ADA) MANE Select	NP_000013.2:n.1078+191_1078+193delinsAGG
NM_001322050.2:c.673+191_673+193delinsAGG (ADA)	NP_001308979.1:n.673+191_673+193delinsAGG
NM_001322051.2:c.1006+191_1006+193delinsAGG (ADA)	NP_001308980.1:n.1006+191_1006+193delinsAGG
NR_136160.2:n.1105+191_1105+193delinsAGG (ADA)