Canonical Allele Identifier: CA2652989821

Gene: ADA PKIG

Linked Data

• gnomAD v4: 20-44620251-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620252_44620253del , CM000682.2:g.44620252_44620253del	GRCh38
NC_000020.10:g.43248893_43248894del , CM000682.1:g.43248893_43248894del	GRCh37
NC_000020.9:g.42682307_42682308del	NCBI36
NG_007385.1:g.36483_36484del , LRG_16:g.36483_36484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+46_1245+47del (ADA)
ENST00000536076.2:c.925+46_925+47del (ADA)	ENSP00000512234.1:n.925+46_925+47del
ENST00000536532.6:c.*221+46_*221+47del (ADA)	ENSP00000440946.1:n.*221+46_*221+47del
ENST00000537820.2:c.1006+46_1006+47del (ADA)	ENSP00000441818.1:n.1006+46_1006+47del
ENST00000539235.6:c.*462+46_*462+47del (ADA)	ENSP00000446464.1:n.*462+46_*462+47del
ENST00000695889.1:c.553+46_553+47del (ADA)	ENSP00000512240.1:n.553+46_553+47del
ENST00000695890.1:n.5235_5236del (ADA)
ENST00000695891.1:c.618+46_618+47del (ADA)	ENSP00000512241.1:n.618+46_618+47del
ENST00000695927.1:c.1156+46_1156+47del (ADA)	ENSP00000512270.1:n.1156+46_1156+47del
ENST00000695949.1:c.1003+46_1003+47del (ADA)	ENSP00000512281.1:n.1003+46_1003+47del
ENST00000695956.1:c.233+46_233+47del (ADA)
ENST00000695957.1:c.*569+46_*569+47del (ADA)	ENSP00000512286.1:n.*569+46_*569+47del
ENST00000695991.1:c.616+46_616+47del (ADA)	ENSP00000512314.1:n.616+46_616+47del
ENST00000695992.1:c.*267_*268del (ADA)	ENSP00000512315.1:n.*267_*268del
ENST00000695993.1:c.1078+46_1078+47del (ADA)	ENSP00000512316.1:n.1078+46_1078+47del
ENST00000695994.1:c.*221+46_*221+47del (ADA)	ENSP00000512317.1:n.*221+46_*221+47del
ENST00000695995.1:c.688+46_688+47del (ADA)	ENSP00000512318.1:n.688+46_688+47del
ENST00000695996.1:n.1160+46_1160+47del (ADA)
ENST00000696003.1:n.2862+46_2862+47del (ADA)
ENST00000696004.1:n.1908_1909del (ADA)
ENST00000696005.1:c.574_575del (ADA)
ENST00000696006.1:c.*221+46_*221+47del (ADA)	ENSP00000512325.1:n.*221+46_*221+47del
ENST00000696007.1:c.1005+46_1005+47del (ADA)	ENSP00000512326.1:n.1005+46_1005+47del
ENST00000696008.1:n.3478_3479del (ADA)
ENST00000696017.1:c.1121_1122del (ADA)	ENSP00000512333.1:p.Pro374ArgfsTer20
ENST00000696034.1:c.*221+46_*221+47del (ADA)	ENSP00000512343.1:n.*221+46_*221+47del
ENST00000696035.1:n.1310_1311del (ADA)
ENST00000696036.1:n.1825_1826del (ADA)
ENST00000696037.1:n.2755+46_2755+47del (ADA)
ENST00000696038.1:c.*881_*882del (ADA)	ENSP00000512344.1:n.*881_*882del
ENST00000696039.1:n.1442+46_1442+47del (ADA)
ENST00000696058.1:c.1075+46_1075+47del (ADA)	ENSP00000512361.1:n.1075+46_1075+47del
ENST00000696059.1:c.*1023+46_*1023+47del (ADA)	ENSP00000512362.1:n.*1023+46_*1023+47del
ENST00000696060.1:c.1147+46_1147+47del (ADA)	ENSP00000512363.1:n.1147+46_1147+47del
ENST00000696061.1:c.1075+46_1075+47del (ADA)	ENSP00000512364.1:n.1075+46_1075+47del
ENST00000696062.1:c.1141+46_1141+47del (ADA)	ENSP00000512365.1:n.1141+46_1141+47del
ENST00000696063.1:c.1153+46_1153+47del (ADA)	ENSP00000512366.1:n.1153+46_1153+47del
ENST00000696064.1:c.925+46_925+47del (ADA)	ENSP00000512367.1:n.925+46_925+47del
ENST00000696065.1:c.400+46_400+47del (ADA)	ENSP00000512368.1:n.400+46_400+47del
ENST00000696072.1:n.479_480del (ADA)
ENST00000696073.1:n.1389+46_1389+47del (ADA)
ENST00000696074.1:n.629+46_629+47del (ADA)
ENST00000696075.1:c.*1048+46_*1048+47del (ADA)	ENSP00000512374.1:n.*1048+46_*1048+47del
ENST00000696076.1:c.1193_1194del (ADA)	ENSP00000512375.1:p.Pro398ArgfsTer20
ENST00000696077.1:c.1072+46_1072+47del (ADA)	ENSP00000512376.1:n.1072+46_1072+47del
ENST00000696078.1:c.1075+46_1075+47del (ADA)	ENSP00000512377.1:n.1075+46_1075+47del
ENST00000696079.1:c.1075+46_1075+47del (ADA)	ENSP00000512378.1:n.1075+46_1075+47del
ENST00000696080.1:c.1078+46_1078+47del (ADA)	ENSP00000512379.1:n.1078+46_1078+47del
ENST00000696081.1:n.1243_1244del (ADA)
ENST00000696082.1:c.1153+46_1153+47del (ADA)	ENSP00000512380.1:n.1153+46_1153+47del
ENST00000696083.1:n.2035+46_2035+47del (ADA)
ENST00000696084.1:n.1301_1302del (ADA)
ENST00000696104.1:c.*147+46_*147+47del (ADA)	ENSP00000512399.1:n.*147+46_*147+47del
ENST00000372874.9:c.1078+46_1078+47del (ADA) MANE Select	ENSP00000361965.4:n.1078+46_1078+47del
ENST00000372874.8:c.1078+46_1078+47del (ADA)	ENSP00000361965.4:n.1078+46_1078+47del
ENST00000372887.5:c.152-3681_152-3680del (PKIG)	ENSP00000361978.1:n.152-3681_152-3680del
ENST00000464097.5:n.1444+46_1444+47del (ADA)
ENST00000492931.5:n.1238+46_1238+47del (ADA)
ENST00000536532.5:c.*221+46_*221+47del (ADA)	ENSP00000440946.1:n.*221+46_*221+47del
ENST00000537820.1:c.1006+46_1006+47del (ADA)	ENSP00000441818.1:n.1006+46_1006+47del
ENST00000539235.5:c.*462+46_*462+47del (ADA)	ENSP00000446464.1:n.*462+46_*462+47del
NM_000022.2:c.1078+46_1078+47del , LRG_16t1:c.1078+46_1078+47del (ADA)	NP_000013.2:n.1078+46_1078+47del
XM_005260236.2:c.1006+46_1006+47del (ADA)	XP_005260293.1:n.1006+46_1006+47del
XM_011528478.1:c.673+46_673+47del (ADA)	XP_011526780.1:n.673+46_673+47del
XM_011528479.1:c.673+46_673+47del (ADA)	XP_011526781.1:n.673+46_673+47del
XR_244129.1:n.1067+46_1067+47del (ADA)
NM_000022.3:c.1078+46_1078+47del (ADA)	NP_000013.2:n.1078+46_1078+47del
NM_001322050.1:c.673+46_673+47del (ADA)	NP_001308979.1:n.673+46_673+47del
NM_001322051.1:c.1006+46_1006+47del (ADA)	NP_001308980.1:n.1006+46_1006+47del
NR_136160.1:n.1164+46_1164+47del (ADA)
NM_000022.4:c.1078+46_1078+47del (ADA) MANE Select	NP_000013.2:n.1078+46_1078+47del
NM_001322050.2:c.673+46_673+47del (ADA)	NP_001308979.1:n.673+46_673+47del
NM_001322051.2:c.1006+46_1006+47del (ADA)	NP_001308980.1:n.1006+46_1006+47del
NR_136160.2:n.1105+46_1105+47del (ADA)