Canonical Allele Identifier: CA636174168

Gene: ADA

Linked Data

• dbSNP Id: rs1201778718
• gnomAD v2: 20-43252939-C-CTT
• gnomAD v4: 20-44624298-C-CTT
• MyVariant Identifiers: chr20:g.43252939_43252940insTT (hg19) ; chr20:g.44624298_44624299insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624299_44624300dup , CM000682.2:g.44624299_44624300dup	GRCh38
NC_000020.10:g.43252940_43252941dup , CM000682.1:g.43252940_43252941dup	GRCh37
NC_000020.9:g.42686354_42686355dup	NCBI36
NG_007385.1:g.32436_32437dup , LRG_16:g.32436_32437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.599_600dup
ENST00000536076.2:c.355_356dup	ENSP00000512234.1:p.Lys120ArgfsTer9
ENST00000536532.6:c.508_509dup	ENSP00000440946.1:p.Lys171ArgfsTer9
ENST00000537820.2:c.508_509dup	ENSP00000441818.1:p.Lys171ArgfsTer9
ENST00000539235.6:c.219-1222_219-1221dup	ENSP00000446464.1:n.219-1222_219-1221dup
ENST00000695889.1:c.219-1370_219-1369dup	ENSP00000512240.1:n.219-1370_219-1369dup
ENST00000695890.1:n.2311_2312dup
ENST00000695891.1:c.219-1370_219-1369dup	ENSP00000512241.1:n.219-1370_219-1369dup
ENST00000695927.1:c.586_587dup	ENSP00000512270.1:p.Lys197ArgfsTer9
ENST00000695949.1:c.505_506dup	ENSP00000512281.1:p.Lys170ArgfsTer9
ENST00000695957.1:c.392_393dup	ENSP00000512286.1:n.392_393dup
ENST00000695991.1:c.217-1370_217-1369dup	ENSP00000512314.1:n.217-1370_217-1369dup
ENST00000695992.1:c.508_509dup	ENSP00000512315.1:p.Lys171ArgfsTer9
ENST00000695993.1:c.508_509dup	ENSP00000512316.1:p.Lys171ArgfsTer9
ENST00000695994.1:c.508_509dup	ENSP00000512317.1:p.Lys171ArgfsTer9
ENST00000695995.1:c.217-1222_217-1221dup	ENSP00000512318.1:n.217-1222_217-1221dup
ENST00000695996.1:n.579_580dup
ENST00000695997.1:n.463_464dup
ENST00000696003.1:n.600_601dup
ENST00000696004.1:n.600_601dup
ENST00000696005.1:c.30_31dup
ENST00000696006.1:c.508_509dup	ENSP00000512325.1:p.Lys171ArgfsTer9
ENST00000696007.1:c.359_360dup	ENSP00000512326.1:n.359_360dup
ENST00000696008.1:n.1663_1664dup
ENST00000696009.1:n.1858_1859dup
ENST00000696017.1:c.505_506dup	ENSP00000512333.1:p.Lys170ArgfsTer9
ENST00000696034.1:c.508_509dup	ENSP00000512343.1:p.Lys171ArgfsTer9
ENST00000696035.1:n.618_619dup
ENST00000696036.1:n.1198_1199dup
ENST00000696037.1:n.2185_2186dup
ENST00000696038.1:c.*254_*255dup	ENSP00000512344.1:n.*254_*255dup
ENST00000696039.1:n.796_797dup
ENST00000696058.1:c.508_509dup	ENSP00000512361.1:p.Lys171ArgfsTer9
ENST00000696059.1:c.*453_*454dup	ENSP00000512362.1:n.*453_*454dup
ENST00000696060.1:c.508_509dup	ENSP00000512363.1:p.Lys171ArgfsTer9
ENST00000696061.1:c.505_506dup	ENSP00000512364.1:p.Lys170ArgfsTer9
ENST00000696062.1:c.571_572dup	ENSP00000512365.1:p.Lys192ArgfsTer9
ENST00000696063.1:c.583_584dup	ENSP00000512366.1:p.Lys196ArgfsTer9
ENST00000696064.1:c.355_356dup	ENSP00000512367.1:p.Lys120ArgfsTer9
ENST00000696065.1:c.66-1370_66-1369dup	ENSP00000512368.1:n.66-1370_66-1369dup
ENST00000696074.1:n.124_125dup
ENST00000696075.1:c.*478_*479dup	ENSP00000512374.1:n.*478_*479dup
ENST00000696076.1:c.508_509dup	ENSP00000512375.1:p.Lys171ArgfsTer9
ENST00000696077.1:c.505_506dup	ENSP00000512376.1:p.Lys170ArgfsTer9
ENST00000696078.1:c.508_509dup	ENSP00000512377.1:p.Lys171ArgfsTer9
ENST00000696079.1:c.508_509dup	ENSP00000512378.1:p.Lys171ArgfsTer9
ENST00000696080.1:c.508_509dup	ENSP00000512379.1:p.Lys171ArgfsTer9
ENST00000696081.1:n.627_628dup
ENST00000696082.1:c.586_587dup	ENSP00000512380.1:p.Lys197ArgfsTer9
ENST00000696083.1:n.1389_1390dup
ENST00000696084.1:n.609_610dup
ENST00000696104.1:c.363-1370_363-1369dup	ENSP00000512399.1:n.363-1370_363-1369dup
ENST00000696105.1:c.*49_*50dup	ENSP00000512400.1:n.*49_*50dup
ENST00000372874.9:c.508_509dup MANE Select	ENSP00000361965.4:p.Lys171ArgfsTer9
ENST00000372874.8:c.508_509dup	ENSP00000361965.4:p.Lys171ArgfsTer9
ENST00000464097.5:n.182_183dup
ENST00000492931.5:n.592_593dup
ENST00000536532.5:c.508_509dup	ENSP00000440946.1:p.Lys171ArgfsTer9
ENST00000537820.1:c.508_509dup	ENSP00000441818.1:p.Lys171ArgfsTer9
ENST00000539235.5:c.219-1222_219-1221dup	ENSP00000446464.1:n.219-1222_219-1221dup
NM_000022.2:c.508_509dup , LRG_16t1:c.508_509dup	NP_000013.2:p.Lys171ArgfsTer9
XM_005260236.2:c.508_509dup	XP_005260293.1:p.Lys171ArgfsTer9
XM_011528478.1:c.103_104dup	XP_011526780.1:p.Lys36ArgfsTer9
XM_011528479.1:c.103_104dup	XP_011526781.1:p.Lys36ArgfsTer9
XR_244129.1:n.562_563dup
NM_000022.3:c.508_509dup	NP_000013.2:p.Lys171ArgfsTer9
NM_001322050.1:c.103_104dup	NP_001308979.1:p.Lys36ArgfsTer9
NM_001322051.1:c.508_509dup	NP_001308980.1:p.Lys171ArgfsTer9
NR_136160.1:n.659_660dup
NM_000022.4:c.508_509dup MANE Select	NP_000013.2:p.Lys171ArgfsTer9
NM_001322050.2:c.103_104dup	NP_001308979.1:p.Lys36ArgfsTer9
NM_001322051.2:c.508_509dup	NP_001308980.1:p.Lys171ArgfsTer9
NR_136160.2:n.600_601dup