Canonical Allele Identifier: CA2652990540

Gene: ADA PKIG

Linked Data

• gnomAD v4: 20-44623199-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623199_44623200insG , CM000682.2:g.44623199_44623200insG	GRCh38
NC_000020.10:g.43251840_43251841insG , CM000682.1:g.43251840_43251841insG	GRCh37
NC_000020.9:g.42685254_42685255insG	NCBI36
NG_007385.1:g.33536_33537insC , LRG_16:g.33536_33537insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.698-122_698-121insC (ADA)
ENST00000536076.2:c.454-122_454-121insC (ADA)	ENSP00000512234.1:n.454-122_454-121insC
ENST00000536532.6:c.607-122_607-121insC (ADA)	ENSP00000440946.1:n.607-122_607-121insC
ENST00000537820.2:c.607-270_607-269insC (ADA)	ENSP00000441818.1:n.607-270_607-269insC
ENST00000539235.6:c.219-122_219-121insC (ADA)	ENSP00000446464.1:n.219-122_219-121insC
ENST00000695889.1:c.219-270_219-269insC (ADA)	ENSP00000512240.1:n.219-270_219-269insC
ENST00000695890.1:n.2410-122_2410-121insC (ADA)
ENST00000695891.1:c.219-270_219-269insC (ADA)	ENSP00000512241.1:n.219-270_219-269insC
ENST00000695927.1:c.685-122_685-121insC (ADA)	ENSP00000512270.1:n.685-122_685-121insC
ENST00000695949.1:c.604-270_604-269insC (ADA)	ENSP00000512281.1:n.604-270_604-269insC
ENST00000695957.1:c.*98-122_*98-121insC (ADA)	ENSP00000512286.1:n.*98-122_*98-121insC
ENST00000695991.1:c.217-270_217-269insC (ADA)	ENSP00000512314.1:n.217-270_217-269insC
ENST00000695992.1:c.607-122_607-121insC (ADA)	ENSP00000512315.1:n.607-122_607-121insC
ENST00000695993.1:c.607-122_607-121insC (ADA)	ENSP00000512316.1:n.607-122_607-121insC
ENST00000695994.1:c.607-122_607-121insC (ADA)	ENSP00000512317.1:n.607-122_607-121insC
ENST00000695995.1:c.217-122_217-121insC (ADA)	ENSP00000512318.1:n.217-122_217-121insC
ENST00000695996.1:n.678-122_678-121insC (ADA)
ENST00000696003.1:n.699-122_699-121insC (ADA)
ENST00000696004.1:n.699-122_699-121insC (ADA)
ENST00000696005.1:c.129-270_129-269insC (ADA)
ENST00000696006.1:c.607-270_607-269insC (ADA)	ENSP00000512325.1:n.607-270_607-269insC
ENST00000696007.1:c.458-122_458-121insC (ADA)	ENSP00000512326.1:n.458-122_458-121insC
ENST00000696008.1:n.2763_2764insC (ADA)
ENST00000696017.1:c.604-122_604-121insC (ADA)	ENSP00000512333.1:n.604-122_604-121insC
ENST00000696034.1:c.607-122_607-121insC (ADA)	ENSP00000512343.1:n.607-122_607-121insC
ENST00000696035.1:n.717-122_717-121insC (ADA)
ENST00000696036.1:n.1297-122_1297-121insC (ADA)
ENST00000696037.1:n.2284-122_2284-121insC (ADA)
ENST00000696038.1:c.*353-122_*353-121insC (ADA)	ENSP00000512344.1:n.*353-122_*353-121insC
ENST00000696039.1:n.895-122_895-121insC (ADA)
ENST00000696058.1:c.607-125_607-124insC (ADA)	ENSP00000512361.1:n.607-125_607-124insC
ENST00000696059.1:c.*552-122_*552-121insC (ADA)	ENSP00000512362.1:n.*552-122_*552-121insC
ENST00000696060.1:c.607-53_607-52insC (ADA)	ENSP00000512363.1:n.607-53_607-52insC
ENST00000696061.1:c.604-122_604-121insC (ADA)	ENSP00000512364.1:n.604-122_604-121insC
ENST00000696062.1:c.670-122_670-121insC (ADA)	ENSP00000512365.1:n.670-122_670-121insC
ENST00000696063.1:c.682-122_682-121insC (ADA)	ENSP00000512366.1:n.682-122_682-121insC
ENST00000696064.1:c.454-122_454-121insC (ADA)	ENSP00000512367.1:n.454-122_454-121insC
ENST00000696065.1:c.66-270_66-269insC (ADA)	ENSP00000512368.1:n.66-270_66-269insC
ENST00000696073.1:n.720_721insC (ADA)
ENST00000696074.1:n.223-122_223-121insC (ADA)
ENST00000696075.1:c.*577-122_*577-121insC (ADA)	ENSP00000512374.1:n.*577-122_*577-121insC
ENST00000696076.1:c.607-53_607-52insC (ADA)	ENSP00000512375.1:n.607-53_607-52insC
ENST00000696077.1:c.604-125_604-124insC (ADA)	ENSP00000512376.1:n.604-125_604-124insC
ENST00000696078.1:c.607-125_607-124insC (ADA)	ENSP00000512377.1:n.607-125_607-124insC
ENST00000696079.1:c.607-125_607-124insC (ADA)	ENSP00000512378.1:n.607-125_607-124insC
ENST00000696080.1:c.607-122_607-121insC (ADA)	ENSP00000512379.1:n.607-122_607-121insC
ENST00000696081.1:n.726-122_726-121insC (ADA)
ENST00000696082.1:c.685-125_685-124insC (ADA)	ENSP00000512380.1:n.685-125_685-124insC
ENST00000696083.1:n.1488-122_1488-121insC (ADA)
ENST00000696084.1:n.708-122_708-121insC (ADA)
ENST00000696104.1:c.363-270_363-269insC (ADA)	ENSP00000512399.1:n.363-270_363-269insC
ENST00000696105.1:c.*148-122_*148-121insC (ADA)	ENSP00000512400.1:n.*148-122_*148-121insC
ENST00000372874.9:c.607-122_607-121insC (ADA) MANE Select	ENSP00000361965.4:n.607-122_607-121insC
ENST00000372874.8:c.607-122_607-121insC (ADA)	ENSP00000361965.4:n.607-122_607-121insC
ENST00000372887.5:c.152-734_152-733insG (PKIG)	ENSP00000361978.1:n.152-734_152-733insG
ENST00000464097.5:n.281-122_281-121insC (ADA)
ENST00000492931.5:n.691-122_691-121insC (ADA)
ENST00000536532.5:c.607-122_607-121insC (ADA)	ENSP00000440946.1:n.607-122_607-121insC
ENST00000537820.1:c.607-270_607-269insC (ADA)	ENSP00000441818.1:n.607-270_607-269insC
ENST00000539235.5:c.219-122_219-121insC (ADA)	ENSP00000446464.1:n.219-122_219-121insC
NM_000022.2:c.607-122_607-121insC , LRG_16t1:c.607-122_607-121insC (ADA)	NP_000013.2:n.607-122_607-121insC
XM_005260236.2:c.607-270_607-269insC (ADA)	XP_005260293.1:n.607-270_607-269insC
XM_011528478.1:c.202-122_202-121insC (ADA)	XP_011526780.1:n.202-122_202-121insC
XM_011528479.1:c.202-122_202-121insC (ADA)	XP_011526781.1:n.202-122_202-121insC
XR_244129.1:n.661-122_661-121insC (ADA)
NM_000022.3:c.607-122_607-121insC (ADA)	NP_000013.2:n.607-122_607-121insC
NM_001322050.1:c.202-122_202-121insC (ADA)	NP_001308979.1:n.202-122_202-121insC
NM_001322051.1:c.607-270_607-269insC (ADA)	NP_001308980.1:n.607-270_607-269insC
NR_136160.1:n.758-122_758-121insC (ADA)
NM_000022.4:c.607-122_607-121insC (ADA) MANE Select	NP_000013.2:n.607-122_607-121insC
NM_001322050.2:c.202-122_202-121insC (ADA)	NP_001308979.1:n.202-122_202-121insC
NM_001322051.2:c.607-270_607-269insC (ADA)	NP_001308980.1:n.607-270_607-269insC
NR_136160.2:n.699-122_699-121insC (ADA)