Canonical Allele Identifier: CA2837995196

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624323dup , CM000682.2:g.44624323dup	GRCh38
NC_000020.10:g.43252964dup , CM000682.1:g.43252964dup	GRCh37
NC_000020.9:g.42686378dup	NCBI36
NG_007385.1:g.32417dup , LRG_16:g.32417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.580dup
ENST00000536076.2:c.336dup	ENSP00000512234.1:p.Lys113GlnfsTer7
ENST00000536532.6:c.489dup	ENSP00000440946.1:p.Lys164GlnfsTer7
ENST00000537820.2:c.489dup	ENSP00000441818.1:p.Lys164GlnfsTer7
ENST00000539235.6:c.219-1241dup	ENSP00000446464.1:n.219-1241dup
ENST00000695889.1:c.219-1389dup	ENSP00000512240.1:n.219-1389dup
ENST00000695890.1:n.2292dup
ENST00000695891.1:c.219-1389dup	ENSP00000512241.1:n.219-1389dup
ENST00000695927.1:c.567dup	ENSP00000512270.1:p.Lys190GlnfsTer7
ENST00000695949.1:c.486dup	ENSP00000512281.1:p.Lys163GlnfsTer7
ENST00000695957.1:c.373dup	ENSP00000512286.1:p.Gln125ProfsTer16
ENST00000695991.1:c.217-1389dup	ENSP00000512314.1:n.217-1389dup
ENST00000695992.1:c.489dup	ENSP00000512315.1:p.Lys164GlnfsTer7
ENST00000695993.1:c.489dup	ENSP00000512316.1:p.Lys164GlnfsTer7
ENST00000695994.1:c.489dup	ENSP00000512317.1:p.Lys164GlnfsTer7
ENST00000695995.1:c.217-1241dup	ENSP00000512318.1:n.217-1241dup
ENST00000695996.1:n.560dup
ENST00000695997.1:n.444dup
ENST00000696003.1:n.581dup
ENST00000696004.1:n.581dup
ENST00000696005.1:c.11dup
ENST00000696006.1:c.489dup	ENSP00000512325.1:p.Lys164GlnfsTer7
ENST00000696007.1:c.340dup	ENSP00000512326.1:p.Gln114ProfsTer16
ENST00000696008.1:n.1644dup
ENST00000696009.1:n.1839dup
ENST00000696017.1:c.486dup	ENSP00000512333.1:p.Lys163GlnfsTer7
ENST00000696034.1:c.489dup	ENSP00000512343.1:p.Lys164GlnfsTer7
ENST00000696035.1:n.599dup
ENST00000696036.1:n.1179dup
ENST00000696037.1:n.2166dup
ENST00000696038.1:c.*235dup	ENSP00000512344.1:n.*235dup
ENST00000696039.1:n.777dup
ENST00000696058.1:c.489dup	ENSP00000512361.1:p.Lys164GlnfsTer7
ENST00000696059.1:c.*434dup	ENSP00000512362.1:n.*434dup
ENST00000696060.1:c.489dup	ENSP00000512363.1:p.Lys164GlnfsTer7
ENST00000696061.1:c.486dup	ENSP00000512364.1:p.Lys163GlnfsTer7
ENST00000696062.1:c.552dup	ENSP00000512365.1:p.Lys185GlnfsTer7
ENST00000696063.1:c.564dup	ENSP00000512366.1:p.Lys189GlnfsTer7
ENST00000696064.1:c.336dup	ENSP00000512367.1:p.Lys113GlnfsTer7
ENST00000696065.1:c.66-1389dup	ENSP00000512368.1:n.66-1389dup
ENST00000696074.1:n.105dup
ENST00000696075.1:c.*459dup	ENSP00000512374.1:n.*459dup
ENST00000696076.1:c.489dup	ENSP00000512375.1:p.Lys164GlnfsTer7
ENST00000696077.1:c.486dup	ENSP00000512376.1:p.Lys163GlnfsTer7
ENST00000696078.1:c.489dup	ENSP00000512377.1:p.Lys164GlnfsTer7
ENST00000696079.1:c.489dup	ENSP00000512378.1:p.Lys164GlnfsTer7
ENST00000696080.1:c.489dup	ENSP00000512379.1:p.Lys164GlnfsTer7
ENST00000696081.1:n.608dup
ENST00000696082.1:c.567dup	ENSP00000512380.1:p.Lys190GlnfsTer7
ENST00000696083.1:n.1370dup
ENST00000696084.1:n.590dup
ENST00000696104.1:c.363-1389dup	ENSP00000512399.1:n.363-1389dup
ENST00000696105.1:c.*30dup	ENSP00000512400.1:n.*30dup
ENST00000372874.9:c.489dup MANE Select	ENSP00000361965.4:p.Lys164GlnfsTer7
ENST00000372874.8:c.489dup	ENSP00000361965.4:p.Lys164GlnfsTer7
ENST00000464097.5:n.163dup
ENST00000492931.5:n.573dup
ENST00000536532.5:c.489dup	ENSP00000440946.1:p.Lys164GlnfsTer7
ENST00000537820.1:c.489dup	ENSP00000441818.1:p.Lys164GlnfsTer7
ENST00000539235.5:c.219-1241dup	ENSP00000446464.1:n.219-1241dup
NM_000022.2:c.489dup , LRG_16t1:c.489dup	NP_000013.2:p.Lys164GlnfsTer7
XM_005260236.2:c.489dup	XP_005260293.1:p.Lys164GlnfsTer7
XM_011528478.1:c.84dup	XP_011526780.1:p.Lys29GlnfsTer7
XM_011528479.1:c.84dup	XP_011526781.1:p.Lys29GlnfsTer7
XR_244129.1:n.543dup
NM_000022.3:c.489dup	NP_000013.2:p.Lys164GlnfsTer7
NM_001322050.1:c.84dup	NP_001308979.1:p.Lys29GlnfsTer7
NM_001322051.1:c.489dup	NP_001308980.1:p.Lys164GlnfsTer7
NR_136160.1:n.640dup
NM_000022.4:c.489dup MANE Select	NP_000013.2:p.Lys164GlnfsTer7
NM_001322050.2:c.84dup	NP_001308979.1:p.Lys29GlnfsTer7
NM_001322051.2:c.489dup	NP_001308980.1:p.Lys164GlnfsTer7
NR_136160.2:n.581dup