Canonical Allele Identifier: CA2695229814

Gene: ADA PKIG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624211_44624222del , CM000682.2:g.44624211_44624222del	GRCh38
NC_000020.10:g.43252852_43252863del , CM000682.1:g.43252852_43252863del	GRCh37
NC_000020.9:g.42686266_42686277del	NCBI36
NG_007385.1:g.32515_32526del , LRG_16:g.32515_32526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.678_689del (ADA)
ENST00000536076.2:c.434_445del (ADA)	ENSP00000512234.1:p.Gly145_Gln148del
ENST00000536532.6:c.587_598del (ADA)	ENSP00000440946.1:p.Gly196_Gln199del
ENST00000537820.2:c.587_598del (ADA)	ENSP00000441818.1:p.Gly196_Gln199del
ENST00000539235.6:c.219-1143_219-1132del (ADA)	ENSP00000446464.1:n.219-1143_219-1132del
ENST00000695889.1:c.219-1291_219-1280del (ADA)	ENSP00000512240.1:n.219-1291_219-1280del
ENST00000695890.1:n.2390_2401del (ADA)
ENST00000695891.1:c.219-1291_219-1280del (ADA)	ENSP00000512241.1:n.219-1291_219-1280del
ENST00000695927.1:c.665_676del (ADA)	ENSP00000512270.1:p.Gly222_Gln225del
ENST00000695949.1:c.584_595del (ADA)	ENSP00000512281.1:p.Gly195_Gln198del
ENST00000695957.1:c.*78_*89del (ADA)	ENSP00000512286.1:n.*78_*89del
ENST00000695991.1:c.217-1291_217-1280del (ADA)	ENSP00000512314.1:n.217-1291_217-1280del
ENST00000695992.1:c.587_598del (ADA)	ENSP00000512315.1:p.Gly196_Gln199del
ENST00000695993.1:c.587_598del (ADA)	ENSP00000512316.1:p.Gly196_Gln199del
ENST00000695994.1:c.587_598del (ADA)	ENSP00000512317.1:p.Gly196_Gln199del
ENST00000695995.1:c.217-1143_217-1132del (ADA)	ENSP00000512318.1:n.217-1143_217-1132del
ENST00000695996.1:n.658_669del (ADA)
ENST00000695997.1:n.542_553del (ADA)
ENST00000696003.1:n.679_690del (ADA)
ENST00000696004.1:n.679_690del (ADA)
ENST00000696005.1:c.109_120del (ADA)
ENST00000696006.1:c.587_598del (ADA)	ENSP00000512325.1:p.Gly196_Gln199del
ENST00000696007.1:c.438_449del (ADA)	ENSP00000512326.1:n.438_449del
ENST00000696008.1:n.1742_1753del (ADA)
ENST00000696009.1:n.1937_1948del (ADA)
ENST00000696017.1:c.584_595del (ADA)	ENSP00000512333.1:p.Gly195_Gln198del
ENST00000696034.1:c.587_598del (ADA)	ENSP00000512343.1:p.Gly196_Gln199del
ENST00000696035.1:n.697_708del (ADA)
ENST00000696036.1:n.1277_1288del (ADA)
ENST00000696037.1:n.2264_2275del (ADA)
ENST00000696038.1:c.*333_*344del (ADA)	ENSP00000512344.1:n.*333_*344del
ENST00000696039.1:n.875_886del (ADA)
ENST00000696058.1:c.587_598del (ADA)	ENSP00000512361.1:p.Gly196_Gln199del
ENST00000696059.1:c.*532_*543del (ADA)	ENSP00000512362.1:n.*532_*543del
ENST00000696060.1:c.587_598del (ADA)	ENSP00000512363.1:p.Gly196_Gln199del
ENST00000696061.1:c.584_595del (ADA)	ENSP00000512364.1:p.Gly195_Gln198del
ENST00000696062.1:c.650_661del (ADA)	ENSP00000512365.1:p.Gly217_Gln220del
ENST00000696063.1:c.662_673del (ADA)	ENSP00000512366.1:p.Gly221_Gln224del
ENST00000696064.1:c.434_445del (ADA)	ENSP00000512367.1:p.Gly145_Gln148del
ENST00000696065.1:c.66-1291_66-1280del (ADA)	ENSP00000512368.1:n.66-1291_66-1280del
ENST00000696074.1:n.203_214del (ADA)
ENST00000696075.1:c.*557_*568del (ADA)	ENSP00000512374.1:n.*557_*568del
ENST00000696076.1:c.587_598del (ADA)	ENSP00000512375.1:p.Gly196_Gln199del
ENST00000696077.1:c.584_595del (ADA)	ENSP00000512376.1:p.Gly195_Gln198del
ENST00000696078.1:c.587_598del (ADA)	ENSP00000512377.1:p.Gly196_Gln199del
ENST00000696079.1:c.587_598del (ADA)	ENSP00000512378.1:p.Gly196_Gln199del
ENST00000696080.1:c.587_598del (ADA)	ENSP00000512379.1:p.Gly196_Gln199del
ENST00000696081.1:n.706_717del (ADA)
ENST00000696082.1:c.665_676del (ADA)	ENSP00000512380.1:p.Gly222_Gln225del
ENST00000696083.1:n.1468_1479del (ADA)
ENST00000696084.1:n.688_699del (ADA)
ENST00000696104.1:c.363-1291_363-1280del (ADA)	ENSP00000512399.1:n.363-1291_363-1280del
ENST00000696105.1:c.*128_*139del (ADA)	ENSP00000512400.1:n.*128_*139del
ENST00000372874.9:c.587_598del (ADA) MANE Select	ENSP00000361965.4:p.Gly196_Gln199del
ENST00000372874.8:c.587_598del (ADA)	ENSP00000361965.4:p.Gly196_Gln199del
ENST00000372887.5:c.*235_*246del (PKIG)	ENSP00000361978.1:n.*235_*246del
ENST00000464097.5:n.261_272del (ADA)
ENST00000492931.5:n.671_682del (ADA)
ENST00000536532.5:c.587_598del (ADA)	ENSP00000440946.1:p.Gly196_Gln199del
ENST00000537820.1:c.587_598del (ADA)	ENSP00000441818.1:p.Gly196_Gln199del
ENST00000539235.5:c.219-1143_219-1132del (ADA)	ENSP00000446464.1:n.219-1143_219-1132del
NM_000022.2:c.587_598del , LRG_16t1:c.587_598del (ADA)	NP_000013.2:p.Gly196_Gln199del
XM_005260236.2:c.587_598del (ADA)	XP_005260293.1:p.Gly196_Gln199del
XM_011528478.1:c.182_193del (ADA)	XP_011526780.1:p.Gly61_Gln64del
XM_011528479.1:c.182_193del (ADA)	XP_011526781.1:p.Gly61_Gln64del
XR_244129.1:n.641_652del (ADA)
NM_000022.3:c.587_598del (ADA)	NP_000013.2:p.Gly196_Gln199del
NM_001322050.1:c.182_193del (ADA)	NP_001308979.1:p.Gly61_Gln64del
NM_001322051.1:c.587_598del (ADA)	NP_001308980.1:p.Gly196_Gln199del
NR_136160.1:n.738_749del (ADA)
NM_000022.4:c.587_598del (ADA) MANE Select	NP_000013.2:p.Gly196_Gln199del
NM_001322050.2:c.182_193del (ADA)	NP_001308979.1:p.Gly61_Gln64del
NM_001322051.2:c.587_598del (ADA)	NP_001308980.1:p.Gly196_Gln199del
NR_136160.2:n.679_690del (ADA)