Canonical Allele Identifier: CA2365856562

Gene: ADA

Linked Data

• dbSNP Id: rs2065361148
• gnomAD v4: 20-44624267-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624268_44624269del , CM000682.2:g.44624268_44624269del	GRCh38
NC_000020.10:g.43252909_43252910del , CM000682.1:g.43252909_43252910del	GRCh37
NC_000020.9:g.42686323_42686324del	NCBI36
NG_007385.1:g.32467_32468del , LRG_16:g.32467_32468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.630_631del
ENST00000536076.2:c.386_387del	ENSP00000512234.1:p.Ile129ArgfsTer6
ENST00000536532.6:c.539_540del	ENSP00000440946.1:p.Ile180ArgfsTer6
ENST00000537820.2:c.539_540del	ENSP00000441818.1:p.Ile180ArgfsTer6
ENST00000539235.6:c.219-1191_219-1190del	ENSP00000446464.1:n.219-1191_219-1190del
ENST00000695889.1:c.219-1339_219-1338del	ENSP00000512240.1:n.219-1339_219-1338del
ENST00000695890.1:n.2342_2343del
ENST00000695891.1:c.219-1339_219-1338del	ENSP00000512241.1:n.219-1339_219-1338del
ENST00000695927.1:c.617_618del	ENSP00000512270.1:p.Ile206ArgfsTer6
ENST00000695949.1:c.536_537del	ENSP00000512281.1:p.Ile179ArgfsTer6
ENST00000695957.1:c.*30_*31del	ENSP00000512286.1:n.*30_*31del
ENST00000695991.1:c.217-1339_217-1338del	ENSP00000512314.1:n.217-1339_217-1338del
ENST00000695992.1:c.539_540del	ENSP00000512315.1:p.Ile180ArgfsTer6
ENST00000695993.1:c.539_540del	ENSP00000512316.1:p.Ile180ArgfsTer6
ENST00000695994.1:c.539_540del	ENSP00000512317.1:p.Ile180ArgfsTer6
ENST00000695995.1:c.217-1191_217-1190del	ENSP00000512318.1:n.217-1191_217-1190del
ENST00000695996.1:n.610_611del
ENST00000695997.1:n.494_495del
ENST00000696003.1:n.631_632del
ENST00000696004.1:n.631_632del
ENST00000696005.1:c.61_62del
ENST00000696006.1:c.539_540del	ENSP00000512325.1:p.Ile180ArgfsTer6
ENST00000696007.1:c.390_391del	ENSP00000512326.1:n.390_391del
ENST00000696008.1:n.1694_1695del
ENST00000696009.1:n.1889_1890del
ENST00000696017.1:c.536_537del	ENSP00000512333.1:p.Ile179ArgfsTer6
ENST00000696034.1:c.539_540del	ENSP00000512343.1:p.Ile180ArgfsTer6
ENST00000696035.1:n.649_650del
ENST00000696036.1:n.1229_1230del
ENST00000696037.1:n.2216_2217del
ENST00000696038.1:c.*285_*286del	ENSP00000512344.1:n.*285_*286del
ENST00000696039.1:n.827_828del
ENST00000696058.1:c.539_540del	ENSP00000512361.1:p.Ile180ArgfsTer6
ENST00000696059.1:c.*484_*485del	ENSP00000512362.1:n.*484_*485del
ENST00000696060.1:c.539_540del	ENSP00000512363.1:p.Ile180ArgfsTer6
ENST00000696061.1:c.536_537del	ENSP00000512364.1:p.Ile179ArgfsTer6
ENST00000696062.1:c.602_603del	ENSP00000512365.1:p.Ile201ArgfsTer6
ENST00000696063.1:c.614_615del	ENSP00000512366.1:p.Ile205ArgfsTer6
ENST00000696064.1:c.386_387del	ENSP00000512367.1:p.Ile129ArgfsTer6
ENST00000696065.1:c.66-1339_66-1338del	ENSP00000512368.1:n.66-1339_66-1338del
ENST00000696074.1:n.155_156del
ENST00000696075.1:c.*509_*510del	ENSP00000512374.1:n.*509_*510del
ENST00000696076.1:c.539_540del	ENSP00000512375.1:p.Ile180ArgfsTer6
ENST00000696077.1:c.536_537del	ENSP00000512376.1:p.Ile179ArgfsTer6
ENST00000696078.1:c.539_540del	ENSP00000512377.1:p.Ile180ArgfsTer6
ENST00000696079.1:c.539_540del	ENSP00000512378.1:p.Ile180ArgfsTer6
ENST00000696080.1:c.539_540del	ENSP00000512379.1:p.Ile180ArgfsTer6
ENST00000696081.1:n.658_659del
ENST00000696082.1:c.617_618del	ENSP00000512380.1:p.Ile206ArgfsTer6
ENST00000696083.1:n.1420_1421del
ENST00000696084.1:n.640_641del
ENST00000696104.1:c.363-1339_363-1338del	ENSP00000512399.1:n.363-1339_363-1338del
ENST00000696105.1:c.*80_*81del	ENSP00000512400.1:n.*80_*81del
ENST00000372874.9:c.539_540del MANE Select	ENSP00000361965.4:p.Ile180ArgfsTer6
ENST00000372874.8:c.539_540del	ENSP00000361965.4:p.Ile180ArgfsTer6
ENST00000464097.5:n.213_214del
ENST00000492931.5:n.623_624del
ENST00000536532.5:c.539_540del	ENSP00000440946.1:p.Ile180ArgfsTer6
ENST00000537820.1:c.539_540del	ENSP00000441818.1:p.Ile180ArgfsTer6
ENST00000539235.5:c.219-1191_219-1190del	ENSP00000446464.1:n.219-1191_219-1190del
NM_000022.2:c.539_540del , LRG_16t1:c.539_540del	NP_000013.2:p.Ile180ArgfsTer6
XM_005260236.2:c.539_540del	XP_005260293.1:p.Ile180ArgfsTer6
XM_011528478.1:c.134_135del	XP_011526780.1:p.Ile45ArgfsTer6
XM_011528479.1:c.134_135del	XP_011526781.1:p.Ile45ArgfsTer6
XR_244129.1:n.593_594del
NM_000022.3:c.539_540del	NP_000013.2:p.Ile180ArgfsTer6
NM_001322050.1:c.134_135del	NP_001308979.1:p.Ile45ArgfsTer6
NM_001322051.1:c.539_540del	NP_001308980.1:p.Ile180ArgfsTer6
NR_136160.1:n.690_691del
NM_000022.4:c.539_540del MANE Select	NP_000013.2:p.Ile180ArgfsTer6
NM_001322050.2:c.134_135del	NP_001308979.1:p.Ile45ArgfsTer6
NM_001322051.2:c.539_540del	NP_001308980.1:p.Ile180ArgfsTer6
NR_136160.2:n.631_632del