Canonical Allele Identifier: CA2365854544

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620239_44620243delinsCAGAA , CM000682.2:g.44620239_44620243delinsCAGAA	GRCh38
NC_000020.10:g.43248880_43248884delinsCAGAA , CM000682.1:g.43248880_43248884delinsCAGAA	GRCh37
NC_000020.9:g.42682294_42682298delinsCAGAA	NCBI36
NG_007385.1:g.36493_36497delinsTTCTG , LRG_16:g.36493_36497delinsTTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+56_1245+60delinsTTCTG (ADA)
ENST00000536076.2:c.925+56_925+60delinsTTCTG (ADA)	ENSP00000512234.1:n.925+56_925+60delinsTTCTG
ENST00000536532.6:c.*221+56_*221+60delinsTTCTG (ADA)	ENSP00000440946.1:n.*221+56_*221+60delinsTTCTG
ENST00000537820.2:c.1006+56_1006+60delinsTTCTG (ADA)	ENSP00000441818.1:n.1006+56_1006+60delinsTTCTG
ENST00000539235.6:c.*462+56_*462+60delinsTTCTG (ADA)	ENSP00000446464.1:n.*462+56_*462+60delinsTTCTG
ENST00000695889.1:c.553+56_553+60delinsTTCTG (ADA)	ENSP00000512240.1:n.553+56_553+60delinsTTCTG
ENST00000695890.1:n.5245_5249delinsTTCTG (ADA)
ENST00000695891.1:c.618+56_618+60delinsTTCTG (ADA)	ENSP00000512241.1:n.618+56_618+60delinsTTCTG
ENST00000695927.1:c.1156+56_1156+60delinsTTCTG (ADA)	ENSP00000512270.1:n.1156+56_1156+60delinsTTCTG
ENST00000695949.1:c.1003+56_1003+60delinsTTCTG (ADA)	ENSP00000512281.1:n.1003+56_1003+60delinsTTCTG
ENST00000695956.1:c.233+56_233+60delinsTTCTG (ADA)
ENST00000695957.1:c.*569+56_*569+60delinsTTCTG (ADA)	ENSP00000512286.1:n.*569+56_*569+60delinsTTCTG
ENST00000695991.1:c.616+56_616+60delinsTTCTG (ADA)	ENSP00000512314.1:n.616+56_616+60delinsTTCTG
ENST00000695992.1:c.*277_*281delinsTTCTG (ADA)	ENSP00000512315.1:n.*277_*281delinsTTCTG
ENST00000695993.1:c.1078+56_1078+60delinsTTCTG (ADA)	ENSP00000512316.1:n.1078+56_1078+60delinsTTCTG
ENST00000695994.1:c.*221+56_*221+60delinsTTCTG (ADA)	ENSP00000512317.1:n.*221+56_*221+60delinsTTCTG
ENST00000695995.1:c.688+56_688+60delinsTTCTG (ADA)	ENSP00000512318.1:n.688+56_688+60delinsTTCTG
ENST00000695996.1:n.1160+56_1160+60delinsTTCTG (ADA)
ENST00000696003.1:n.2862+56_2862+60delinsTTCTG (ADA)
ENST00000696004.1:n.1918_1922delinsTTCTG (ADA)
ENST00000696005.1:c.584_588delinsTTCTG (ADA)
ENST00000696006.1:c.*221+56_*221+60delinsTTCTG (ADA)	ENSP00000512325.1:n.*221+56_*221+60delinsTTCTG
ENST00000696007.1:c.1005+56_1005+60delinsTTCTG (ADA)	ENSP00000512326.1:n.1005+56_1005+60delinsTTCTG
ENST00000696008.1:n.3488_3492delinsTTCTG (ADA)
ENST00000696017.1:c.1131_1135delinsTTCTG (ADA)	ENSP00000512333.1:p.Leu377=
ENST00000696034.1:c.*221+56_*221+60delinsTTCTG (ADA)	ENSP00000512343.1:n.*221+56_*221+60delinsTTCTG
ENST00000696035.1:n.1320_1324delinsTTCTG (ADA)
ENST00000696036.1:n.1835_1839delinsTTCTG (ADA)
ENST00000696037.1:n.2755+56_2755+60delinsTTCTG (ADA)
ENST00000696038.1:c.*891_*895delinsTTCTG (ADA)	ENSP00000512344.1:n.*891_*895delinsTTCTG
ENST00000696039.1:n.1442+56_1442+60delinsTTCTG (ADA)
ENST00000696058.1:c.1075+56_1075+60delinsTTCTG (ADA)	ENSP00000512361.1:n.1075+56_1075+60delinsTTCTG
ENST00000696059.1:c.*1023+56_*1023+60delinsTTCTG (ADA)	ENSP00000512362.1:n.*1023+56_*1023+60delinsTTCTG
ENST00000696060.1:c.1147+56_1147+60delinsTTCTG (ADA)	ENSP00000512363.1:n.1147+56_1147+60delinsTTCTG
ENST00000696061.1:c.1075+56_1075+60delinsTTCTG (ADA)	ENSP00000512364.1:n.1075+56_1075+60delinsTTCTG
ENST00000696062.1:c.1141+56_1141+60delinsTTCTG (ADA)	ENSP00000512365.1:n.1141+56_1141+60delinsTTCTG
ENST00000696063.1:c.1153+56_1153+60delinsTTCTG (ADA)	ENSP00000512366.1:n.1153+56_1153+60delinsTTCTG
ENST00000696064.1:c.925+56_925+60delinsTTCTG (ADA)	ENSP00000512367.1:n.925+56_925+60delinsTTCTG
ENST00000696065.1:c.400+56_400+60delinsTTCTG (ADA)	ENSP00000512368.1:n.400+56_400+60delinsTTCTG
ENST00000696072.1:n.489_493delinsTTCTG (ADA)
ENST00000696073.1:n.1389+56_1389+60delinsTTCTG (ADA)
ENST00000696074.1:n.629+56_629+60delinsTTCTG (ADA)
ENST00000696075.1:c.*1048+56_*1048+60delinsTTCTG (ADA)	ENSP00000512374.1:n.*1048+56_*1048+60delinsTTCTG
ENST00000696076.1:c.1203_1207delinsTTCTG (ADA)	ENSP00000512375.1:p.Leu401=
ENST00000696077.1:c.1072+56_1072+60delinsTTCTG (ADA)	ENSP00000512376.1:n.1072+56_1072+60delinsTTCTG
ENST00000696078.1:c.1075+56_1075+60delinsTTCTG (ADA)	ENSP00000512377.1:n.1075+56_1075+60delinsTTCTG
ENST00000696079.1:c.1075+56_1075+60delinsTTCTG (ADA)	ENSP00000512378.1:n.1075+56_1075+60delinsTTCTG
ENST00000696080.1:c.1078+56_1078+60delinsTTCTG (ADA)	ENSP00000512379.1:n.1078+56_1078+60delinsTTCTG
ENST00000696081.1:n.1253_1257delinsTTCTG (ADA)
ENST00000696082.1:c.1153+56_1153+60delinsTTCTG (ADA)	ENSP00000512380.1:n.1153+56_1153+60delinsTTCTG
ENST00000696083.1:n.2035+56_2035+60delinsTTCTG (ADA)
ENST00000696084.1:n.1311_1315delinsTTCTG (ADA)
ENST00000696104.1:c.*147+56_*147+60delinsTTCTG (ADA)	ENSP00000512399.1:n.*147+56_*147+60delinsTTCTG
ENST00000372874.9:c.1078+56_1078+60delinsTTCTG (ADA) MANE Select	ENSP00000361965.4:n.1078+56_1078+60delinsTTCTG
ENST00000372874.8:c.1078+56_1078+60delinsTTCTG (ADA)	ENSP00000361965.4:n.1078+56_1078+60delinsTTCTG
ENST00000372887.5:c.152-3694_152-3690delinsCAGAA (PKIG)	ENSP00000361978.1:n.152-3694_152-3690delinsCAGAA
ENST00000464097.5:n.1444+56_1444+60delinsTTCTG (ADA)
ENST00000492931.5:n.1238+56_1238+60delinsTTCTG (ADA)
ENST00000536532.5:c.*221+56_*221+60delinsTTCTG (ADA)	ENSP00000440946.1:n.*221+56_*221+60delinsTTCTG
ENST00000537820.1:c.1006+56_1006+60delinsTTCTG (ADA)	ENSP00000441818.1:n.1006+56_1006+60delinsTTCTG
ENST00000539235.5:c.*462+56_*462+60delinsTTCTG (ADA)	ENSP00000446464.1:n.*462+56_*462+60delinsTTCTG
NM_000022.2:c.1078+56_1078+60delinsTTCTG , LRG_16t1:c.1078+56_1078+60delinsTTCTG (ADA)	NP_000013.2:n.1078+56_1078+60delinsTTCTG
XM_005260236.2:c.1006+56_1006+60delinsTTCTG (ADA)	XP_005260293.1:n.1006+56_1006+60delinsTTCTG
XM_011528478.1:c.673+56_673+60delinsTTCTG (ADA)	XP_011526780.1:n.673+56_673+60delinsTTCTG
XM_011528479.1:c.673+56_673+60delinsTTCTG (ADA)	XP_011526781.1:n.673+56_673+60delinsTTCTG
XR_244129.1:n.1067+56_1067+60delinsTTCTG (ADA)
NM_000022.3:c.1078+56_1078+60delinsTTCTG (ADA)	NP_000013.2:n.1078+56_1078+60delinsTTCTG
NM_001322050.1:c.673+56_673+60delinsTTCTG (ADA)	NP_001308979.1:n.673+56_673+60delinsTTCTG
NM_001322051.1:c.1006+56_1006+60delinsTTCTG (ADA)	NP_001308980.1:n.1006+56_1006+60delinsTTCTG
NR_136160.1:n.1164+56_1164+60delinsTTCTG (ADA)
NM_000022.4:c.1078+56_1078+60delinsTTCTG (ADA) MANE Select	NP_000013.2:n.1078+56_1078+60delinsTTCTG
NM_001322050.2:c.673+56_673+60delinsTTCTG (ADA)	NP_001308979.1:n.673+56_673+60delinsTTCTG
NM_001322051.2:c.1006+56_1006+60delinsTTCTG (ADA)	NP_001308980.1:n.1006+56_1006+60delinsTTCTG
NR_136160.2:n.1105+56_1105+60delinsTTCTG (ADA)