Canonical Allele Identifier: CA2365856735

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624640_44624645delinsTCTCTC , CM000682.2:g.44624640_44624645delinsTCTCTC	GRCh38
NC_000020.10:g.43253281_43253286delinsTCTCTC , CM000682.1:g.43253281_43253286delinsTCTCTC	GRCh37
NC_000020.9:g.42686695_42686700delinsTCTCTC	NCBI36
NG_007385.1:g.32091_32096delinsGAGAGA , LRG_16:g.32091_32096delinsGAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.570-316_570-311delinsGAGAGA
ENST00000536076.2:c.326-316_326-311delinsGAGAGA	ENSP00000512234.1:n.326-316_326-311delinsGAGAGA
ENST00000536532.6:c.479-316_479-311delinsGAGAGA	ENSP00000440946.1:n.479-316_479-311delinsGAGAGA
ENST00000537820.2:c.479-316_479-311delinsGAGAGA	ENSP00000441818.1:n.479-316_479-311delinsGAGAGA
ENST00000539235.6:c.219-1567_219-1562delinsGAGAGA	ENSP00000446464.1:n.219-1567_219-1562delinsGAGAGA
ENST00000695889.1:c.219-1715_219-1710delinsGAGAGA	ENSP00000512240.1:n.219-1715_219-1710delinsGAGAGA
ENST00000695890.1:n.2282-316_2282-311delinsGAGAGA
ENST00000695891.1:c.219-1715_219-1710delinsGAGAGA	ENSP00000512241.1:n.219-1715_219-1710delinsGAGAGA
ENST00000695927.1:c.557-316_557-311delinsGAGAGA	ENSP00000512270.1:n.557-316_557-311delinsGAGAGA
ENST00000695949.1:c.476-316_476-311delinsGAGAGA	ENSP00000512281.1:n.476-316_476-311delinsGAGAGA
ENST00000695957.1:c.363-316_363-311delinsGAGAGA	ENSP00000512286.1:n.363-316_363-311delinsGAGAGA
ENST00000695991.1:c.217-1715_217-1710delinsGAGAGA	ENSP00000512314.1:n.217-1715_217-1710delinsGAGAGA
ENST00000695992.1:c.479-316_479-311delinsGAGAGA	ENSP00000512315.1:n.479-316_479-311delinsGAGAGA
ENST00000695993.1:c.479-316_479-311delinsGAGAGA	ENSP00000512316.1:n.479-316_479-311delinsGAGAGA
ENST00000695994.1:c.479-316_479-311delinsGAGAGA	ENSP00000512317.1:n.479-316_479-311delinsGAGAGA
ENST00000695995.1:c.217-1567_217-1562delinsGAGAGA	ENSP00000512318.1:n.217-1567_217-1562delinsGAGAGA
ENST00000695996.1:n.550-316_550-311delinsGAGAGA
ENST00000695997.1:n.434-316_434-311delinsGAGAGA
ENST00000696003.1:n.571-316_571-311delinsGAGAGA
ENST00000696004.1:n.571-316_571-311delinsGAGAGA
ENST00000696006.1:c.479-316_479-311delinsGAGAGA	ENSP00000512325.1:n.479-316_479-311delinsGAGAGA
ENST00000696007.1:c.330-316_330-311delinsGAGAGA	ENSP00000512326.1:n.330-316_330-311delinsGAGAGA
ENST00000696008.1:n.1318_1323delinsGAGAGA
ENST00000696009.1:n.1513_1518delinsGAGAGA
ENST00000696017.1:c.476-316_476-311delinsGAGAGA	ENSP00000512333.1:n.476-316_476-311delinsGAGAGA
ENST00000696034.1:c.479-316_479-311delinsGAGAGA	ENSP00000512343.1:n.479-316_479-311delinsGAGAGA
ENST00000696035.1:n.589-316_589-311delinsGAGAGA
ENST00000696036.1:n.1169-316_1169-311delinsGAGAGA
ENST00000696037.1:n.2156-316_2156-311delinsGAGAGA
ENST00000696038.1:c.*225-316_*225-311delinsGAGAGA	ENSP00000512344.1:n.*225-316_*225-311delinsGAGAGA
ENST00000696039.1:n.767-316_767-311delinsGAGAGA
ENST00000696058.1:c.479-316_479-311delinsGAGAGA	ENSP00000512361.1:n.479-316_479-311delinsGAGAGA
ENST00000696059.1:c.*424-316_*424-311delinsGAGAGA	ENSP00000512362.1:n.*424-316_*424-311delinsGAGAGA
ENST00000696060.1:c.479-316_479-311delinsGAGAGA	ENSP00000512363.1:n.479-316_479-311delinsGAGAGA
ENST00000696061.1:c.476-316_476-311delinsGAGAGA	ENSP00000512364.1:n.476-316_476-311delinsGAGAGA
ENST00000696062.1:c.542-316_542-311delinsGAGAGA	ENSP00000512365.1:n.542-316_542-311delinsGAGAGA
ENST00000696063.1:c.554-316_554-311delinsGAGAGA	ENSP00000512366.1:n.554-316_554-311delinsGAGAGA
ENST00000696064.1:c.326-316_326-311delinsGAGAGA	ENSP00000512367.1:n.326-316_326-311delinsGAGAGA
ENST00000696065.1:c.66-1715_66-1710delinsGAGAGA	ENSP00000512368.1:n.66-1715_66-1710delinsGAGAGA
ENST00000696075.1:c.*449-316_*449-311delinsGAGAGA	ENSP00000512374.1:n.*449-316_*449-311delinsGAGAGA
ENST00000696076.1:c.479-316_479-311delinsGAGAGA	ENSP00000512375.1:n.479-316_479-311delinsGAGAGA
ENST00000696077.1:c.476-316_476-311delinsGAGAGA	ENSP00000512376.1:n.476-316_476-311delinsGAGAGA
ENST00000696078.1:c.479-316_479-311delinsGAGAGA	ENSP00000512377.1:n.479-316_479-311delinsGAGAGA
ENST00000696079.1:c.479-316_479-311delinsGAGAGA	ENSP00000512378.1:n.479-316_479-311delinsGAGAGA
ENST00000696080.1:c.479-316_479-311delinsGAGAGA	ENSP00000512379.1:n.479-316_479-311delinsGAGAGA
ENST00000696081.1:n.282_287delinsGAGAGA
ENST00000696082.1:c.557-316_557-311delinsGAGAGA	ENSP00000512380.1:n.557-316_557-311delinsGAGAGA
ENST00000696083.1:n.1044_1049delinsGAGAGA
ENST00000696084.1:n.580-316_580-311delinsGAGAGA
ENST00000696104.1:c.363-1715_363-1710delinsGAGAGA	ENSP00000512399.1:n.363-1715_363-1710delinsGAGAGA
ENST00000696105.1:c.*19+3_*19+8delinsGAGAGA	ENSP00000512400.1:n.*19+3_*19+8delinsGAGAGA
ENST00000372874.9:c.479-316_479-311delinsGAGAGA MANE Select	ENSP00000361965.4:n.479-316_479-311delinsGAGAGA
ENST00000372874.8:c.479-316_479-311delinsGAGAGA	ENSP00000361965.4:n.479-316_479-311delinsGAGAGA
ENST00000464097.5:n.153-316_153-311delinsGAGAGA
ENST00000492931.5:n.563-316_563-311delinsGAGAGA
ENST00000536532.5:c.479-316_479-311delinsGAGAGA	ENSP00000440946.1:n.479-316_479-311delinsGAGAGA
ENST00000537820.1:c.479-316_479-311delinsGAGAGA	ENSP00000441818.1:n.479-316_479-311delinsGAGAGA
ENST00000539235.5:c.219-1567_219-1562delinsGAGAGA	ENSP00000446464.1:n.219-1567_219-1562delinsGAGAGA
NM_000022.2:c.479-316_479-311delinsGAGAGA , LRG_16t1:c.479-316_479-311delinsGAGAGA	NP_000013.2:n.479-316_479-311delinsGAGAGA
XM_005260236.2:c.479-316_479-311delinsGAGAGA	XP_005260293.1:n.479-316_479-311delinsGAGAGA
XM_011528478.1:c.74-316_74-311delinsGAGAGA	XP_011526780.1:n.74-316_74-311delinsGAGAGA
XM_011528479.1:c.74-316_74-311delinsGAGAGA	XP_011526781.1:n.74-316_74-311delinsGAGAGA
XR_244129.1:n.533-316_533-311delinsGAGAGA
NM_000022.3:c.479-316_479-311delinsGAGAGA	NP_000013.2:n.479-316_479-311delinsGAGAGA
NM_001322050.1:c.74-316_74-311delinsGAGAGA	NP_001308979.1:n.74-316_74-311delinsGAGAGA
NM_001322051.1:c.479-316_479-311delinsGAGAGA	NP_001308980.1:n.479-316_479-311delinsGAGAGA
NR_136160.1:n.630-316_630-311delinsGAGAGA
NM_000022.4:c.479-316_479-311delinsGAGAGA MANE Select	NP_000013.2:n.479-316_479-311delinsGAGAGA
NM_001322050.2:c.74-316_74-311delinsGAGAGA	NP_001308979.1:n.74-316_74-311delinsGAGAGA
NM_001322051.2:c.479-316_479-311delinsGAGAGA	NP_001308980.1:n.479-316_479-311delinsGAGAGA
NR_136160.2:n.571-316_571-311delinsGAGAGA