Canonical Allele Identifier: CA2573157139

Gene: ADA

Linked Data

• ClinVar Variation Id: 1459657
• ClinVar RCV Id: RCV001959109
• dbSNP Id: rs2145366792

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651472_44651574del , CM000682.2:g.44651472_44651574del	GRCh38
NC_000020.10:g.43280113_43280215del , CM000682.1:g.43280113_43280215del	GRCh37
NC_000020.9:g.42713527_42713629del	NCBI36
NG_007385.1:g.5163_5265del , LRG_16:g.5163_5265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.124+2_124+104del
ENST00000536076.2:c.-121+329_-121+431del	ENSP00000512234.1:n.-121+329_-121+431del
ENST00000536532.6:c.33+2_33+104del	ENSP00000440946.1:n.33+2_33+104del
ENST00000537820.2:c.33+2_33+104del	ENSP00000441818.1:n.33+2_33+104del
ENST00000539235.6:c.33+2_33+104del	ENSP00000446464.1:n.33+2_33+104del
ENST00000695889.1:c.33+2_33+104del	ENSP00000512240.1:n.33+2_33+104del
ENST00000695891.1:c.33+2_33+104del	ENSP00000512241.1:n.33+2_33+104del
ENST00000695949.1:c.33+2_33+104del	ENSP00000512281.1:n.33+2_33+104del
ENST00000695957.1:c.33+2_33+104del	ENSP00000512286.1:n.33+2_33+104del
ENST00000695991.1:c.33+2_33+104del	ENSP00000512314.1:n.33+2_33+104del
ENST00000695992.1:c.33+2_33+104del	ENSP00000512315.1:n.33+2_33+104del
ENST00000695993.1:c.33+2_33+104del	ENSP00000512316.1:n.33+2_33+104del
ENST00000695994.1:c.33+2_33+104del	ENSP00000512317.1:n.33+2_33+104del
ENST00000695995.1:c.33+2_33+104del	ENSP00000512318.1:n.33+2_33+104del
ENST00000695996.1:n.104+2_104+104del
ENST00000695997.1:n.104+2_104+104del
ENST00000696003.1:n.125+2_125+104del
ENST00000696004.1:n.125+2_125+104del
ENST00000696006.1:c.33+2_33+104del	ENSP00000512325.1:n.33+2_33+104del
ENST00000696009.1:n.144+2_144+104del
ENST00000696010.1:n.146+2_146+104del
ENST00000696017.1:c.33+2_33+104del	ENSP00000512333.1:n.33+2_33+104del
ENST00000696034.1:c.33+2_33+104del	ENSP00000512343.1:n.33+2_33+104del
ENST00000696038.1:c.33+2_33+104del	ENSP00000512344.1:n.33+2_33+104del
ENST00000696039.1:n.321+329_321+431del
ENST00000696058.1:c.33+2_33+104del	ENSP00000512361.1:n.33+2_33+104del
ENST00000696059.1:c.33+2_33+104del	ENSP00000512362.1:n.33+2_33+104del
ENST00000696060.1:c.33+2_33+104del	ENSP00000512363.1:n.33+2_33+104del
ENST00000696061.1:c.33+2_33+104del	ENSP00000512364.1:n.33+2_33+104del
ENST00000696062.1:c.96+527_96+629del	ENSP00000512365.1:n.96+527_96+629del
ENST00000696063.1:c.33+2_33+104del	ENSP00000512366.1:n.33+2_33+104del
ENST00000696064.1:c.-118+329_-118+431del	ENSP00000512367.1:n.-118+329_-118+431del
ENST00000696065.1:c.-121+329_-121+431del	ENSP00000512368.1:n.-121+329_-121+431del
ENST00000696075.1:c.33+2_33+104del	ENSP00000512374.1:n.33+2_33+104del
ENST00000696076.1:c.33+2_33+104del	ENSP00000512375.1:n.33+2_33+104del
ENST00000696077.1:c.33+2_33+104del	ENSP00000512376.1:n.33+2_33+104del
ENST00000696078.1:c.33+2_33+104del	ENSP00000512377.1:n.33+2_33+104del
ENST00000696079.1:c.33+2_33+104del	ENSP00000512378.1:n.33+2_33+104del
ENST00000696080.1:c.33+2_33+104del	ENSP00000512379.1:n.33+2_33+104del
ENST00000696084.1:n.134+2_134+104del
ENST00000696104.1:c.33+2_33+104del	ENSP00000512399.1:n.33+2_33+104del
ENST00000696105.1:c.33+2_33+104del	ENSP00000512400.1:n.33+2_33+104del
ENST00000372874.9:c.33+2_33+104del MANE Select	ENSP00000361965.4:n.33+2_33+104del
ENST00000372874.8:c.33+2_33+104del	ENSP00000361965.4:n.33+2_33+104del
ENST00000492931.5:n.117+2_117+104del
ENST00000535573.1:n.332+329_332+431del
ENST00000536076.1:n.213+329_213+431del
ENST00000536532.5:c.33+2_33+104del	ENSP00000440946.1:n.33+2_33+104del
ENST00000537820.1:c.33+2_33+104del	ENSP00000441818.1:n.33+2_33+104del
ENST00000539235.5:c.33+2_33+104del	ENSP00000446464.1:n.33+2_33+104del
ENST00000545776.5:n.87+2_87+104del
NM_000022.2:c.33+2_33+104del , LRG_16t1:c.33+2_33+104del	NP_000013.2:n.33+2_33+104del
XM_005260236.2:c.33+2_33+104del	XP_005260293.1:n.33+2_33+104del
XM_011528478.1:c.-257+2_-257+104del	XP_011526780.1:n.-257+2_-257+104del
XM_011528479.1:c.-257+329_-257+431del	XP_011526781.1:n.-257+329_-257+431del
XR_244129.1:n.87+2_87+104del
NM_000022.3:c.33+2_33+104del	NP_000013.2:n.33+2_33+104del
NM_001322050.1:c.-257+2_-257+104del	NP_001308979.1:n.-257+2_-257+104del
NM_001322051.1:c.33+2_33+104del	NP_001308980.1:n.33+2_33+104del
NR_136160.1:n.184+2_184+104del
NM_000022.4:c.33+2_33+104del MANE Select	NP_000013.2:n.33+2_33+104del
NM_001322050.2:c.-257+2_-257+104del	NP_001308979.1:n.-257+2_-257+104del
NM_001322051.2:c.33+2_33+104del	NP_001308980.1:n.33+2_33+104del
NR_136160.2:n.125+2_125+104del