Canonical Allele Identifier: CA2365856527

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624191A= , CM000682.2:g.44624191A=	GRCh38
NC_000020.10:g.43252832A= , CM000682.1:g.43252832A=	GRCh37
NC_000020.9:g.42686246A=	NCBI36
NG_007385.1:g.32545T= , LRG_16:g.32545T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.697+11T= (ADA)
ENST00000536076.2:c.453+11T= (ADA)	ENSP00000512234.1:n.453+11T=
ENST00000536532.6:c.606+11T= (ADA)	ENSP00000440946.1:n.606+11T=
ENST00000537820.2:c.606+11T= (ADA)	ENSP00000441818.1:n.606+11T=
ENST00000539235.6:c.219-1113T= (ADA)	ENSP00000446464.1:n.219-1113T=
ENST00000695889.1:c.219-1261T= (ADA)	ENSP00000512240.1:n.219-1261T=
ENST00000695890.1:n.2409+11T= (ADA)
ENST00000695891.1:c.219-1261T= (ADA)	ENSP00000512241.1:n.219-1261T=
ENST00000695927.1:c.684+11T= (ADA)	ENSP00000512270.1:n.684+11T=
ENST00000695949.1:c.603+11T= (ADA)	ENSP00000512281.1:n.603+11T=
ENST00000695957.1:c.*97+11T= (ADA)	ENSP00000512286.1:n.*97+11T=
ENST00000695991.1:c.217-1261T= (ADA)	ENSP00000512314.1:n.217-1261T=
ENST00000695992.1:c.606+11T= (ADA)	ENSP00000512315.1:n.606+11T=
ENST00000695993.1:c.606+11T= (ADA)	ENSP00000512316.1:n.606+11T=
ENST00000695994.1:c.606+11T= (ADA)	ENSP00000512317.1:n.606+11T=
ENST00000695995.1:c.217-1113T= (ADA)	ENSP00000512318.1:n.217-1113T=
ENST00000695996.1:n.677+11T= (ADA)
ENST00000695997.1:n.572T= (ADA)
ENST00000696003.1:n.698+11T= (ADA)
ENST00000696004.1:n.698+11T= (ADA)
ENST00000696005.1:c.128+11T= (ADA)
ENST00000696006.1:c.606+11T= (ADA)	ENSP00000512325.1:n.606+11T=
ENST00000696007.1:c.457+11T= (ADA)	ENSP00000512326.1:n.457+11T=
ENST00000696008.1:n.1772T= (ADA)
ENST00000696009.1:n.1967T= (ADA)
ENST00000696017.1:c.603+11T= (ADA)	ENSP00000512333.1:n.603+11T=
ENST00000696034.1:c.606+11T= (ADA)	ENSP00000512343.1:n.606+11T=
ENST00000696035.1:n.716+11T= (ADA)
ENST00000696036.1:n.1296+11T= (ADA)
ENST00000696037.1:n.2283+11T= (ADA)
ENST00000696038.1:c.*352+11T= (ADA)	ENSP00000512344.1:n.*352+11T=
ENST00000696039.1:n.894+11T= (ADA)
ENST00000696058.1:c.606+11T= (ADA)	ENSP00000512361.1:n.606+11T=
ENST00000696059.1:c.*551+11T= (ADA)	ENSP00000512362.1:n.*551+11T=
ENST00000696060.1:c.606+11T= (ADA)	ENSP00000512363.1:n.606+11T=
ENST00000696061.1:c.603+11T= (ADA)	ENSP00000512364.1:n.603+11T=
ENST00000696062.1:c.669+11T= (ADA)	ENSP00000512365.1:n.669+11T=
ENST00000696063.1:c.681+11T= (ADA)	ENSP00000512366.1:n.681+11T=
ENST00000696064.1:c.453+11T= (ADA)	ENSP00000512367.1:n.453+11T=
ENST00000696065.1:c.66-1261T= (ADA)	ENSP00000512368.1:n.66-1261T=
ENST00000696074.1:n.222+11T= (ADA)
ENST00000696075.1:c.*576+11T= (ADA)	ENSP00000512374.1:n.*576+11T=
ENST00000696076.1:c.606+11T= (ADA)	ENSP00000512375.1:n.606+11T=
ENST00000696077.1:c.603+11T= (ADA)	ENSP00000512376.1:n.603+11T=
ENST00000696078.1:c.606+11T= (ADA)	ENSP00000512377.1:n.606+11T=
ENST00000696079.1:c.606+11T= (ADA)	ENSP00000512378.1:n.606+11T=
ENST00000696080.1:c.606+11T= (ADA)	ENSP00000512379.1:n.606+11T=
ENST00000696081.1:n.725+11T= (ADA)
ENST00000696082.1:c.684+11T= (ADA)	ENSP00000512380.1:n.684+11T=
ENST00000696083.1:n.1487+11T= (ADA)
ENST00000696084.1:n.707+11T= (ADA)
ENST00000696104.1:c.363-1261T= (ADA)	ENSP00000512399.1:n.363-1261T=
ENST00000696105.1:c.*147+11T= (ADA)	ENSP00000512400.1:n.*147+11T=
ENST00000372874.9:c.606+11T= (ADA) MANE Select	ENSP00000361965.4:n.606+11T=
ENST00000372874.8:c.606+11T= (ADA)	ENSP00000361965.4:n.606+11T=
ENST00000372887.5:c.*215A= (PKIG)	ENSP00000361978.1:n.*215A=
ENST00000464097.5:n.280+11T= (ADA)
ENST00000492931.5:n.690+11T= (ADA)
ENST00000536532.5:c.606+11T= (ADA)	ENSP00000440946.1:n.606+11T=
ENST00000537820.1:c.606+11T= (ADA)	ENSP00000441818.1:n.606+11T=
ENST00000539235.5:c.219-1113T= (ADA)	ENSP00000446464.1:n.219-1113T=
NM_000022.2:c.606+11T= , LRG_16t1:c.606+11T= (ADA)	NP_000013.2:n.606+11T=
XM_005260236.2:c.606+11T= (ADA)	XP_005260293.1:n.606+11T=
XM_011528478.1:c.201+11T= (ADA)	XP_011526780.1:n.201+11T=
XM_011528479.1:c.201+11T= (ADA)	XP_011526781.1:n.201+11T=
XR_244129.1:n.660+11T= (ADA)
NM_000022.3:c.606+11T= (ADA)	NP_000013.2:n.606+11T=
NM_001322050.1:c.201+11T= (ADA)	NP_001308979.1:n.201+11T=
NM_001322051.1:c.606+11T= (ADA)	NP_001308980.1:n.606+11T=
NR_136160.1:n.757+11T= (ADA)
NM_000022.4:c.606+11T= (ADA) MANE Select	NP_000013.2:n.606+11T=
NM_001322050.2:c.201+11T= (ADA)	NP_001308979.1:n.201+11T=
NM_001322051.2:c.606+11T= (ADA)	NP_001308980.1:n.606+11T=
NR_136160.2:n.698+11T= (ADA)