Canonical Allele Identifier: CA2550858997

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624288del , CM000682.2:g.44624288del	GRCh38
NC_000020.10:g.43252929del , CM000682.1:g.43252929del	GRCh37
NC_000020.9:g.42686343del	NCBI36
NG_007385.1:g.32448del , LRG_16:g.32448del

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.611del
ENST00000536076.2:c.367del	ENSP00000512234.1:p.Gln123SerfsTer5
ENST00000536532.6:c.520del	ENSP00000440946.1:p.Gln174SerfsTer5
ENST00000537820.2:c.520del	ENSP00000441818.1:p.Gln174SerfsTer5
ENST00000539235.6:c.219-1210del	ENSP00000446464.1:n.219-1210del
ENST00000695889.1:c.219-1358del	ENSP00000512240.1:n.219-1358del
ENST00000695890.1:n.2323del
ENST00000695891.1:c.219-1358del	ENSP00000512241.1:n.219-1358del
ENST00000695927.1:c.598del	ENSP00000512270.1:p.Gln200SerfsTer5
ENST00000695949.1:c.517del	ENSP00000512281.1:p.Gln173SerfsTer5
ENST00000695957.1:c.*11del	ENSP00000512286.1:n.*11del
ENST00000695991.1:c.217-1358del	ENSP00000512314.1:n.217-1358del
ENST00000695992.1:c.520del	ENSP00000512315.1:p.Gln174SerfsTer5
ENST00000695993.1:c.520del	ENSP00000512316.1:p.Gln174SerfsTer5
ENST00000695994.1:c.520del	ENSP00000512317.1:p.Gln174SerfsTer5
ENST00000695995.1:c.217-1210del	ENSP00000512318.1:n.217-1210del
ENST00000695996.1:n.591del
ENST00000695997.1:n.475del
ENST00000696003.1:n.612del
ENST00000696004.1:n.612del
ENST00000696005.1:c.42del
ENST00000696006.1:c.520del	ENSP00000512325.1:p.Gln174SerfsTer5
ENST00000696007.1:c.371del	ENSP00000512326.1:n.371del
ENST00000696008.1:n.1675del
ENST00000696009.1:n.1870del
ENST00000696017.1:c.517del	ENSP00000512333.1:p.Gln173SerfsTer5
ENST00000696034.1:c.520del	ENSP00000512343.1:p.Gln174SerfsTer5
ENST00000696035.1:n.630del
ENST00000696036.1:n.1210del
ENST00000696037.1:n.2197del
ENST00000696038.1:c.*266del	ENSP00000512344.1:n.*266del
ENST00000696039.1:n.808del
ENST00000696058.1:c.520del	ENSP00000512361.1:p.Gln174SerfsTer5
ENST00000696059.1:c.*465del	ENSP00000512362.1:n.*465del
ENST00000696060.1:c.520del	ENSP00000512363.1:p.Gln174SerfsTer5
ENST00000696061.1:c.517del	ENSP00000512364.1:p.Gln173SerfsTer5
ENST00000696062.1:c.583del	ENSP00000512365.1:p.Gln195SerfsTer5
ENST00000696063.1:c.595del	ENSP00000512366.1:p.Gln199SerfsTer5
ENST00000696064.1:c.367del	ENSP00000512367.1:p.Gln123SerfsTer5
ENST00000696065.1:c.66-1358del	ENSP00000512368.1:n.66-1358del
ENST00000696074.1:n.136del
ENST00000696075.1:c.*490del	ENSP00000512374.1:n.*490del
ENST00000696076.1:c.520del	ENSP00000512375.1:p.Gln174SerfsTer5
ENST00000696077.1:c.517del	ENSP00000512376.1:p.Gln173SerfsTer5
ENST00000696078.1:c.520del	ENSP00000512377.1:p.Gln174SerfsTer5
ENST00000696079.1:c.520del	ENSP00000512378.1:p.Gln174SerfsTer5
ENST00000696080.1:c.520del	ENSP00000512379.1:p.Gln174SerfsTer5
ENST00000696081.1:n.639del
ENST00000696082.1:c.598del	ENSP00000512380.1:p.Gln200SerfsTer5
ENST00000696083.1:n.1401del
ENST00000696084.1:n.621del
ENST00000696104.1:c.363-1358del	ENSP00000512399.1:n.363-1358del
ENST00000696105.1:c.*61del	ENSP00000512400.1:n.*61del
ENST00000372874.9:c.520del MANE Select	ENSP00000361965.4:p.Gln174SerfsTer5
ENST00000372874.8:c.520del	ENSP00000361965.4:p.Gln174SerfsTer5
ENST00000464097.5:n.194del
ENST00000492931.5:n.604del
ENST00000536532.5:c.520del	ENSP00000440946.1:p.Gln174SerfsTer5
ENST00000537820.1:c.520del	ENSP00000441818.1:p.Gln174SerfsTer5
ENST00000539235.5:c.219-1210del	ENSP00000446464.1:n.219-1210del
NM_000022.2:c.520del , LRG_16t1:c.520del	NP_000013.2:p.Gln174SerfsTer5
XM_005260236.2:c.520del	XP_005260293.1:p.Gln174SerfsTer5
XM_011528478.1:c.115del	XP_011526780.1:p.Gln39SerfsTer5
XM_011528479.1:c.115del	XP_011526781.1:p.Gln39SerfsTer5
XR_244129.1:n.574del
NM_000022.3:c.520del	NP_000013.2:p.Gln174SerfsTer5
NM_001322050.1:c.115del	NP_001308979.1:p.Gln39SerfsTer5
NM_001322051.1:c.520del	NP_001308980.1:p.Gln174SerfsTer5
NR_136160.1:n.671del
NM_000022.4:c.520del MANE Select	NP_000013.2:p.Gln174SerfsTer5
NM_001322050.2:c.115del	NP_001308979.1:p.Gln39SerfsTer5
NM_001322051.2:c.520del	NP_001308980.1:p.Gln174SerfsTer5
NR_136160.2:n.612del