Canonical Allele Identifier: CA2652990633

Gene: ADA PKIG

Linked Data

• gnomAD v4: 20-44623888-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623888_44623889insT , CM000682.2:g.44623888_44623889insT	GRCh38
NC_000020.10:g.43252529_43252530insT , CM000682.1:g.43252529_43252530insT	GRCh37
NC_000020.9:g.42685943_42685944insT	NCBI36
NG_007385.1:g.32847_32848insA , LRG_16:g.32847_32848insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.697+313_697+314insA (ADA)
ENST00000536076.2:c.453+313_453+314insA (ADA)	ENSP00000512234.1:n.453+313_453+314insA
ENST00000536532.6:c.606+313_606+314insA (ADA)	ENSP00000440946.1:n.606+313_606+314insA
ENST00000537820.2:c.606+313_606+314insA (ADA)	ENSP00000441818.1:n.606+313_606+314insA
ENST00000539235.6:c.219-811_219-810insA (ADA)	ENSP00000446464.1:n.219-811_219-810insA
ENST00000695889.1:c.219-959_219-958insA (ADA)	ENSP00000512240.1:n.219-959_219-958insA
ENST00000695890.1:n.2409+313_2409+314insA (ADA)
ENST00000695891.1:c.219-959_219-958insA (ADA)	ENSP00000512241.1:n.219-959_219-958insA
ENST00000695927.1:c.684+313_684+314insA (ADA)	ENSP00000512270.1:n.684+313_684+314insA
ENST00000695949.1:c.603+313_603+314insA (ADA)	ENSP00000512281.1:n.603+313_603+314insA
ENST00000695957.1:c.*97+313_*97+314insA (ADA)	ENSP00000512286.1:n.*97+313_*97+314insA
ENST00000695991.1:c.217-959_217-958insA (ADA)	ENSP00000512314.1:n.217-959_217-958insA
ENST00000695992.1:c.606+313_606+314insA (ADA)	ENSP00000512315.1:n.606+313_606+314insA
ENST00000695993.1:c.606+313_606+314insA (ADA)	ENSP00000512316.1:n.606+313_606+314insA
ENST00000695994.1:c.606+313_606+314insA (ADA)	ENSP00000512317.1:n.606+313_606+314insA
ENST00000695995.1:c.217-811_217-810insA (ADA)	ENSP00000512318.1:n.217-811_217-810insA
ENST00000695996.1:n.677+313_677+314insA (ADA)
ENST00000695997.1:n.874_875insA (ADA)
ENST00000696003.1:n.698+313_698+314insA (ADA)
ENST00000696004.1:n.698+313_698+314insA (ADA)
ENST00000696005.1:c.128+313_128+314insA (ADA)
ENST00000696006.1:c.606+313_606+314insA (ADA)	ENSP00000512325.1:n.606+313_606+314insA
ENST00000696007.1:c.457+313_457+314insA (ADA)	ENSP00000512326.1:n.457+313_457+314insA
ENST00000696008.1:n.2074_2075insA (ADA)
ENST00000696017.1:c.603+313_603+314insA (ADA)	ENSP00000512333.1:n.603+313_603+314insA
ENST00000696034.1:c.606+313_606+314insA (ADA)	ENSP00000512343.1:n.606+313_606+314insA
ENST00000696035.1:n.716+313_716+314insA (ADA)
ENST00000696036.1:n.1296+313_1296+314insA (ADA)
ENST00000696037.1:n.2283+313_2283+314insA (ADA)
ENST00000696038.1:c.*352+313_*352+314insA (ADA)	ENSP00000512344.1:n.*352+313_*352+314insA
ENST00000696039.1:n.894+313_894+314insA (ADA)
ENST00000696058.1:c.606+313_606+314insA (ADA)	ENSP00000512361.1:n.606+313_606+314insA
ENST00000696059.1:c.*551+313_*551+314insA (ADA)	ENSP00000512362.1:n.*551+313_*551+314insA
ENST00000696060.1:c.606+313_606+314insA (ADA)	ENSP00000512363.1:n.606+313_606+314insA
ENST00000696061.1:c.603+313_603+314insA (ADA)	ENSP00000512364.1:n.603+313_603+314insA
ENST00000696062.1:c.669+313_669+314insA (ADA)	ENSP00000512365.1:n.669+313_669+314insA
ENST00000696063.1:c.681+313_681+314insA (ADA)	ENSP00000512366.1:n.681+313_681+314insA
ENST00000696064.1:c.453+313_453+314insA (ADA)	ENSP00000512367.1:n.453+313_453+314insA
ENST00000696065.1:c.66-959_66-958insA (ADA)	ENSP00000512368.1:n.66-959_66-958insA
ENST00000696073.1:n.31_32insA (ADA)
ENST00000696074.1:n.222+313_222+314insA (ADA)
ENST00000696075.1:c.*576+313_*576+314insA (ADA)	ENSP00000512374.1:n.*576+313_*576+314insA
ENST00000696076.1:c.606+313_606+314insA (ADA)	ENSP00000512375.1:n.606+313_606+314insA
ENST00000696077.1:c.603+313_603+314insA (ADA)	ENSP00000512376.1:n.603+313_603+314insA
ENST00000696078.1:c.606+313_606+314insA (ADA)	ENSP00000512377.1:n.606+313_606+314insA
ENST00000696079.1:c.606+313_606+314insA (ADA)	ENSP00000512378.1:n.606+313_606+314insA
ENST00000696080.1:c.606+313_606+314insA (ADA)	ENSP00000512379.1:n.606+313_606+314insA
ENST00000696081.1:n.725+313_725+314insA (ADA)
ENST00000696082.1:c.684+313_684+314insA (ADA)	ENSP00000512380.1:n.684+313_684+314insA
ENST00000696083.1:n.1487+313_1487+314insA (ADA)
ENST00000696084.1:n.707+313_707+314insA (ADA)
ENST00000696104.1:c.363-959_363-958insA (ADA)	ENSP00000512399.1:n.363-959_363-958insA
ENST00000696105.1:c.*147+313_*147+314insA (ADA)	ENSP00000512400.1:n.*147+313_*147+314insA
ENST00000372874.9:c.606+313_606+314insA (ADA) MANE Select	ENSP00000361965.4:n.606+313_606+314insA
ENST00000372874.8:c.606+313_606+314insA (ADA)	ENSP00000361965.4:n.606+313_606+314insA
ENST00000372887.5:c.152-45_152-44insT (PKIG)	ENSP00000361978.1:n.152-45_152-44insT
ENST00000464097.5:n.280+313_280+314insA (ADA)
ENST00000492931.5:n.690+313_690+314insA (ADA)
ENST00000536532.5:c.606+313_606+314insA (ADA)	ENSP00000440946.1:n.606+313_606+314insA
ENST00000537820.1:c.606+313_606+314insA (ADA)	ENSP00000441818.1:n.606+313_606+314insA
ENST00000539235.5:c.219-811_219-810insA (ADA)	ENSP00000446464.1:n.219-811_219-810insA
NM_000022.2:c.606+313_606+314insA , LRG_16t1:c.606+313_606+314insA (ADA)	NP_000013.2:n.606+313_606+314insA
XM_005260236.2:c.606+313_606+314insA (ADA)	XP_005260293.1:n.606+313_606+314insA
XM_011528478.1:c.201+313_201+314insA (ADA)	XP_011526780.1:n.201+313_201+314insA
XM_011528479.1:c.201+313_201+314insA (ADA)	XP_011526781.1:n.201+313_201+314insA
XR_244129.1:n.660+313_660+314insA (ADA)
NM_000022.3:c.606+313_606+314insA (ADA)	NP_000013.2:n.606+313_606+314insA
NM_001322050.1:c.201+313_201+314insA (ADA)	NP_001308979.1:n.201+313_201+314insA
NM_001322051.1:c.606+313_606+314insA (ADA)	NP_001308980.1:n.606+313_606+314insA
NR_136160.1:n.757+313_757+314insA (ADA)
NM_000022.4:c.606+313_606+314insA (ADA) MANE Select	NP_000013.2:n.606+313_606+314insA
NM_001322050.2:c.201+313_201+314insA (ADA)	NP_001308979.1:n.201+313_201+314insA
NM_001322051.2:c.606+313_606+314insA (ADA)	NP_001308980.1:n.606+313_606+314insA
NR_136160.2:n.698+313_698+314insA (ADA)