Canonical Allele Identifier: CA2365854471

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs2065313650

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620110_44620111del , CM000682.2:g.44620110_44620111del	GRCh38
NC_000020.10:g.43248751_43248752del , CM000682.1:g.43248751_43248752del	GRCh37
NC_000020.9:g.42682165_42682166del	NCBI36
NG_007385.1:g.36628_36629del , LRG_16:g.36628_36629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1245+191_1245+192del (ADA)
ENST00000536076.2:c.925+191_925+192del (ADA)	ENSP00000512234.1:n.925+191_925+192del
ENST00000536532.6:c.*221+191_*221+192del (ADA)	ENSP00000440946.1:n.*221+191_*221+192del
ENST00000537820.2:c.1006+191_1006+192del (ADA)	ENSP00000441818.1:n.1006+191_1006+192del
ENST00000539235.6:c.*462+191_*462+192del (ADA)	ENSP00000446464.1:n.*462+191_*462+192del
ENST00000695889.1:c.553+191_553+192del (ADA)	ENSP00000512240.1:n.553+191_553+192del
ENST00000695890.1:n.5380_5381del (ADA)
ENST00000695891.1:c.618+191_618+192del (ADA)	ENSP00000512241.1:n.618+191_618+192del
ENST00000695927.1:c.1156+191_1156+192del (ADA)	ENSP00000512270.1:n.1156+191_1156+192del
ENST00000695949.1:c.1003+191_1003+192del (ADA)	ENSP00000512281.1:n.1003+191_1003+192del
ENST00000695956.1:c.233+191_233+192del (ADA)
ENST00000695957.1:c.*569+191_*569+192del (ADA)	ENSP00000512286.1:n.*569+191_*569+192del
ENST00000695991.1:c.616+191_616+192del (ADA)	ENSP00000512314.1:n.616+191_616+192del
ENST00000695992.1:c.*412_*413del (ADA)	ENSP00000512315.1:n.*412_*413del
ENST00000695993.1:c.1079-163_1079-162del (ADA)	ENSP00000512316.1:n.1079-163_1079-162del
ENST00000695994.1:c.*221+191_*221+192del (ADA)	ENSP00000512317.1:n.*221+191_*221+192del
ENST00000695995.1:c.688+191_688+192del (ADA)	ENSP00000512318.1:n.688+191_688+192del
ENST00000695996.1:n.1160+191_1160+192del (ADA)
ENST00000696003.1:n.2862+191_2862+192del (ADA)
ENST00000696004.1:n.2053_2054del (ADA)
ENST00000696005.1:c.719_720del (ADA)
ENST00000696006.1:c.*221+191_*221+192del (ADA)	ENSP00000512325.1:n.*221+191_*221+192del
ENST00000696007.1:c.1005+191_1005+192del (ADA)	ENSP00000512326.1:n.1005+191_1005+192del
ENST00000696008.1:n.3623_3624del (ADA)
ENST00000696017.1:c.*12_*13del (ADA)	ENSP00000512333.1:n.*12_*13del
ENST00000696034.1:c.*221+191_*221+192del (ADA)	ENSP00000512343.1:n.*221+191_*221+192del
ENST00000696035.1:n.1455_1456del (ADA)
ENST00000696036.1:n.1970_1971del (ADA)
ENST00000696037.1:n.2755+191_2755+192del (ADA)
ENST00000696038.1:c.*1026_*1027del (ADA)	ENSP00000512344.1:n.*1026_*1027del
ENST00000696039.1:n.1442+191_1442+192del (ADA)
ENST00000696058.1:c.1076-163_1076-162del (ADA)	ENSP00000512361.1:n.1076-163_1076-162del
ENST00000696059.1:c.*1023+191_*1023+192del (ADA)	ENSP00000512362.1:n.*1023+191_*1023+192del
ENST00000696060.1:c.1147+191_1147+192del (ADA)	ENSP00000512363.1:n.1147+191_1147+192del
ENST00000696061.1:c.1075+191_1075+192del (ADA)	ENSP00000512364.1:n.1075+191_1075+192del
ENST00000696062.1:c.1141+191_1141+192del (ADA)	ENSP00000512365.1:n.1141+191_1141+192del
ENST00000696063.1:c.1153+191_1153+192del (ADA)	ENSP00000512366.1:n.1153+191_1153+192del
ENST00000696064.1:c.925+191_925+192del (ADA)	ENSP00000512367.1:n.925+191_925+192del
ENST00000696065.1:c.400+191_400+192del (ADA)	ENSP00000512368.1:n.400+191_400+192del
ENST00000696072.1:n.624_625del (ADA)
ENST00000696073.1:n.1389+191_1389+192del (ADA)
ENST00000696074.1:n.629+191_629+192del (ADA)
ENST00000696075.1:c.*1048+191_*1048+192del (ADA)	ENSP00000512374.1:n.*1048+191_*1048+192del
ENST00000696076.1:c.*12_*13del (ADA)	ENSP00000512375.1:n.*12_*13del
ENST00000696077.1:c.1072+191_1072+192del (ADA)	ENSP00000512376.1:n.1072+191_1072+192del
ENST00000696078.1:c.1075+191_1075+192del (ADA)	ENSP00000512377.1:n.1075+191_1075+192del
ENST00000696079.1:c.1075+191_1075+192del (ADA)	ENSP00000512378.1:n.1075+191_1075+192del
ENST00000696080.1:c.1078+191_1078+192del (ADA)	ENSP00000512379.1:n.1078+191_1078+192del
ENST00000696081.1:n.1388_1389del (ADA)
ENST00000696082.1:c.1153+191_1153+192del (ADA)	ENSP00000512380.1:n.1153+191_1153+192del
ENST00000696083.1:n.2035+191_2035+192del (ADA)
ENST00000696084.1:n.1446_1447del (ADA)
ENST00000696104.1:c.*147+191_*147+192del (ADA)	ENSP00000512399.1:n.*147+191_*147+192del
ENST00000372874.9:c.1078+191_1078+192del (ADA) MANE Select	ENSP00000361965.4:n.1078+191_1078+192del
ENST00000372874.8:c.1078+191_1078+192del (ADA)	ENSP00000361965.4:n.1078+191_1078+192del
ENST00000372887.5:c.152-3823_152-3822del (PKIG)	ENSP00000361978.1:n.152-3823_152-3822del
ENST00000464097.5:n.1444+191_1444+192del (ADA)
ENST00000492931.5:n.1238+191_1238+192del (ADA)
ENST00000536532.5:c.*221+191_*221+192del (ADA)	ENSP00000440946.1:n.*221+191_*221+192del
ENST00000537820.1:c.1006+191_1006+192del (ADA)	ENSP00000441818.1:n.1006+191_1006+192del
ENST00000539235.5:c.*462+191_*462+192del (ADA)	ENSP00000446464.1:n.*462+191_*462+192del
NM_000022.2:c.1078+191_1078+192del , LRG_16t1:c.1078+191_1078+192del (ADA)	NP_000013.2:n.1078+191_1078+192del
XM_005260236.2:c.1006+191_1006+192del (ADA)	XP_005260293.1:n.1006+191_1006+192del
XM_011528478.1:c.673+191_673+192del (ADA)	XP_011526780.1:n.673+191_673+192del
XM_011528479.1:c.673+191_673+192del (ADA)	XP_011526781.1:n.673+191_673+192del
XR_244129.1:n.1067+191_1067+192del (ADA)
NM_000022.3:c.1078+191_1078+192del (ADA)	NP_000013.2:n.1078+191_1078+192del
NM_001322050.1:c.673+191_673+192del (ADA)	NP_001308979.1:n.673+191_673+192del
NM_001322051.1:c.1006+191_1006+192del (ADA)	NP_001308980.1:n.1006+191_1006+192del
NR_136160.1:n.1164+191_1164+192del (ADA)
NM_000022.4:c.1078+191_1078+192del (ADA) MANE Select	NP_000013.2:n.1078+191_1078+192del
NM_001322050.2:c.673+191_673+192del (ADA)	NP_001308979.1:n.673+191_673+192del
NM_001322051.2:c.1006+191_1006+192del (ADA)	NP_001308980.1:n.1006+191_1006+192del
NR_136160.2:n.1105+191_1105+192del (ADA)