Canonical Allele Identifier: CA2573157137

Gene: ADA PKIG

Linked Data

• ClinVar Variation Id: 1349841
• ClinVar RCV Id: RCV002039307
• dbSNP Id: rs2123507789

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44620337_44620338insTA , CM000682.2:g.44620337_44620338insTA	GRCh38
NC_000020.10:g.43248978_43248979insTA , CM000682.1:g.43248978_43248979insTA	GRCh37
NC_000020.9:g.42682392_42682393insTA	NCBI36
NG_007385.1:g.36399_36400insAT , LRG_16:g.36399_36400insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.1207_1208insAT (ADA)
ENST00000536076.2:c.887_888insAT (ADA)	ENSP00000512234.1:p.Tyr297SerfsTer?
ENST00000536532.6:c.*183_*184insAT (ADA)	ENSP00000440946.1:n.*183_*184insAT
ENST00000537820.2:c.968_969insAT (ADA)	ENSP00000441818.1:p.Tyr324SerfsTer?
ENST00000539235.6:c.*424_*425insAT (ADA)	ENSP00000446464.1:n.*424_*425insAT
ENST00000695889.1:c.515_516insAT (ADA)	ENSP00000512240.1:p.Tyr173SerfsTer?
ENST00000695890.1:n.5151_5152insAT (ADA)
ENST00000695891.1:c.580_581insAT (ADA)	ENSP00000512241.1:n.580_581insAT
ENST00000695927.1:c.1118_1119insAT (ADA)	ENSP00000512270.1:p.Tyr374SerfsTer?
ENST00000695949.1:c.965_966insAT (ADA)	ENSP00000512281.1:p.Tyr323SerfsTer?
ENST00000695956.1:c.195_196insAT (ADA)
ENST00000695957.1:c.*531_*532insAT (ADA)	ENSP00000512286.1:n.*531_*532insAT
ENST00000695991.1:c.578_579insAT (ADA)	ENSP00000512314.1:p.Tyr194SerfsTer?
ENST00000695992.1:c.*183_*184insAT (ADA)	ENSP00000512315.1:n.*183_*184insAT
ENST00000695993.1:c.1040_1041insAT (ADA)	ENSP00000512316.1:p.Tyr348SerfsTer?
ENST00000695994.1:c.*183_*184insAT (ADA)	ENSP00000512317.1:n.*183_*184insAT
ENST00000695995.1:c.650_651insAT (ADA)	ENSP00000512318.1:p.Tyr218SerfsTer?
ENST00000695996.1:n.1122_1123insAT (ADA)
ENST00000696003.1:n.2824_2825insAT (ADA)
ENST00000696004.1:n.1824_1825insAT (ADA)
ENST00000696005.1:c.490_491insAT (ADA)
ENST00000696006.1:c.*183_*184insAT (ADA)	ENSP00000512325.1:n.*183_*184insAT
ENST00000696007.1:c.967_968insAT (ADA)	ENSP00000512326.1:n.967_968insAT
ENST00000696008.1:n.3394_3395insAT (ADA)
ENST00000696017.1:c.1037_1038insAT (ADA)	ENSP00000512333.1:p.Tyr347SerfsTer?
ENST00000696034.1:c.*183_*184insAT (ADA)	ENSP00000512343.1:n.*183_*184insAT
ENST00000696035.1:n.1226_1227insAT (ADA)
ENST00000696036.1:n.1741_1742insAT (ADA)
ENST00000696037.1:n.2717_2718insAT (ADA)
ENST00000696038.1:c.*797_*798insAT (ADA)	ENSP00000512344.1:n.*797_*798insAT
ENST00000696039.1:n.1404_1405insAT (ADA)
ENST00000696058.1:c.1037_1038insAT (ADA)	ENSP00000512361.1:p.Tyr347SerfsTer?
ENST00000696059.1:c.*985_*986insAT (ADA)	ENSP00000512362.1:n.*985_*986insAT
ENST00000696060.1:c.1109_1110insAT (ADA)	ENSP00000512363.1:p.Tyr371SerfsTer?
ENST00000696061.1:c.1037_1038insAT (ADA)	ENSP00000512364.1:p.Tyr347SerfsTer?
ENST00000696062.1:c.1103_1104insAT (ADA)	ENSP00000512365.1:p.Tyr369SerfsTer?
ENST00000696063.1:c.1115_1116insAT (ADA)	ENSP00000512366.1:p.Tyr373SerfsTer?
ENST00000696064.1:c.887_888insAT (ADA)	ENSP00000512367.1:p.Tyr297SerfsTer?
ENST00000696065.1:c.362_363insAT (ADA)	ENSP00000512368.1:p.Tyr122SerfsTer?
ENST00000696072.1:n.395_396insAT (ADA)
ENST00000696073.1:n.1351_1352insAT (ADA)
ENST00000696074.1:n.591_592insAT (ADA)
ENST00000696075.1:c.*1010_*1011insAT (ADA)	ENSP00000512374.1:n.*1010_*1011insAT
ENST00000696076.1:c.1109_1110insAT (ADA)	ENSP00000512375.1:p.Tyr371SerfsTer?
ENST00000696077.1:c.1034_1035insAT (ADA)	ENSP00000512376.1:p.Tyr346SerfsTer?
ENST00000696078.1:c.1037_1038insAT (ADA)	ENSP00000512377.1:p.Tyr347SerfsTer?
ENST00000696079.1:c.1037_1038insAT (ADA)	ENSP00000512378.1:p.Tyr347SerfsTer16
ENST00000696080.1:c.1040_1041insAT (ADA)	ENSP00000512379.1:p.Tyr348SerfsTer16
ENST00000696081.1:n.1159_1160insAT (ADA)
ENST00000696082.1:c.1115_1116insAT (ADA)	ENSP00000512380.1:p.Tyr373SerfsTer?
ENST00000696083.1:n.1997_1998insAT (ADA)
ENST00000696084.1:n.1217_1218insAT (ADA)
ENST00000696104.1:c.*109_*110insAT (ADA)	ENSP00000512399.1:n.*109_*110insAT
ENST00000372874.9:c.1040_1041insAT (ADA) MANE Select	ENSP00000361965.4:p.Tyr348SerfsTer?
ENST00000372874.8:c.1040_1041insAT (ADA)	ENSP00000361965.4:p.Tyr348SerfsTer?
ENST00000372887.5:c.152-3596_152-3595insTA (PKIG)	ENSP00000361978.1:n.152-3596_152-3595insTA
ENST00000464097.5:n.1406_1407insAT (ADA)
ENST00000492931.5:n.1200_1201insAT (ADA)
ENST00000536532.5:c.*183_*184insAT (ADA)	ENSP00000440946.1:n.*183_*184insAT
ENST00000537820.1:c.968_969insAT (ADA)	ENSP00000441818.1:p.Tyr324SerfsTer?
ENST00000539235.5:c.*424_*425insAT (ADA)	ENSP00000446464.1:n.*424_*425insAT
NM_000022.2:c.1040_1041insAT , LRG_16t1:c.1040_1041insAT (ADA)	NP_000013.2:p.Tyr348SerfsTer?
XM_005260236.2:c.968_969insAT (ADA)	XP_005260293.1:p.Tyr324SerfsTer?
XM_011528478.1:c.635_636insAT (ADA)	XP_011526780.1:p.Tyr213SerfsTer?
XM_011528479.1:c.635_636insAT (ADA)	XP_011526781.1:p.Tyr213SerfsTer?
XR_244129.1:n.1029_1030insAT (ADA)
NM_000022.3:c.1040_1041insAT (ADA)	NP_000013.2:p.Tyr348SerfsTer?
NM_001322050.1:c.635_636insAT (ADA)	NP_001308979.1:p.Tyr213SerfsTer?
NM_001322051.1:c.968_969insAT (ADA)	NP_001308980.1:p.Tyr324SerfsTer?
NR_136160.1:n.1126_1127insAT (ADA)
NM_000022.4:c.1040_1041insAT (ADA) MANE Select	NP_000013.2:p.Tyr348SerfsTer?
NM_001322050.2:c.635_636insAT (ADA)	NP_001308979.1:p.Tyr213SerfsTer?
NM_001322051.2:c.968_969insAT (ADA)	NP_001308980.1:p.Tyr324SerfsTer?
NR_136160.2:n.1067_1068insAT (ADA)