Canonical Allele Identifier: CA2365868828

Gene: ADA

Linked Data

• dbSNP Id: rs2065644491

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651410_44651438del , CM000682.2:g.44651410_44651438del	GRCh38
NC_000020.10:g.43280051_43280079del , CM000682.1:g.43280051_43280079del	GRCh37
NC_000020.9:g.42713465_42713493del	NCBI36
NG_007385.1:g.5299_5327del , LRG_16:g.5299_5327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.124+138_124+166del
ENST00000536076.2:c.-121+465_-121+493del	ENSP00000512234.1:n.-121+465_-121+493del
ENST00000536532.6:c.33+138_33+166del	ENSP00000440946.1:n.33+138_33+166del
ENST00000537820.2:c.33+138_33+166del	ENSP00000441818.1:n.33+138_33+166del
ENST00000539235.6:c.33+138_33+166del	ENSP00000446464.1:n.33+138_33+166del
ENST00000695889.1:c.33+138_33+166del	ENSP00000512240.1:n.33+138_33+166del
ENST00000695891.1:c.33+138_33+166del	ENSP00000512241.1:n.33+138_33+166del
ENST00000695949.1:c.33+138_33+166del	ENSP00000512281.1:n.33+138_33+166del
ENST00000695957.1:c.33+138_33+166del	ENSP00000512286.1:n.33+138_33+166del
ENST00000695991.1:c.33+138_33+166del	ENSP00000512314.1:n.33+138_33+166del
ENST00000695992.1:c.33+138_33+166del	ENSP00000512315.1:n.33+138_33+166del
ENST00000695993.1:c.33+138_33+166del	ENSP00000512316.1:n.33+138_33+166del
ENST00000695994.1:c.33+138_33+166del	ENSP00000512317.1:n.33+138_33+166del
ENST00000695995.1:c.33+138_33+166del	ENSP00000512318.1:n.33+138_33+166del
ENST00000695996.1:n.104+138_104+166del
ENST00000695997.1:n.104+138_104+166del
ENST00000696003.1:n.125+138_125+166del
ENST00000696004.1:n.125+138_125+166del
ENST00000696006.1:c.33+138_33+166del	ENSP00000512325.1:n.33+138_33+166del
ENST00000696009.1:n.144+138_144+166del
ENST00000696010.1:n.146+138_146+166del
ENST00000696017.1:c.33+138_33+166del	ENSP00000512333.1:n.33+138_33+166del
ENST00000696034.1:c.33+138_33+166del	ENSP00000512343.1:n.33+138_33+166del
ENST00000696038.1:c.33+138_33+166del	ENSP00000512344.1:n.33+138_33+166del
ENST00000696039.1:n.321+465_321+493del
ENST00000696058.1:c.33+138_33+166del	ENSP00000512361.1:n.33+138_33+166del
ENST00000696059.1:c.33+138_33+166del	ENSP00000512362.1:n.33+138_33+166del
ENST00000696060.1:c.33+138_33+166del	ENSP00000512363.1:n.33+138_33+166del
ENST00000696061.1:c.33+138_33+166del	ENSP00000512364.1:n.33+138_33+166del
ENST00000696062.1:c.96+663_96+691del	ENSP00000512365.1:n.96+663_96+691del
ENST00000696063.1:c.33+138_33+166del	ENSP00000512366.1:n.33+138_33+166del
ENST00000696064.1:c.-118+465_-118+493del	ENSP00000512367.1:n.-118+465_-118+493del
ENST00000696065.1:c.-121+465_-121+493del	ENSP00000512368.1:n.-121+465_-121+493del
ENST00000696075.1:c.33+138_33+166del	ENSP00000512374.1:n.33+138_33+166del
ENST00000696076.1:c.33+138_33+166del	ENSP00000512375.1:n.33+138_33+166del
ENST00000696077.1:c.33+138_33+166del	ENSP00000512376.1:n.33+138_33+166del
ENST00000696078.1:c.33+138_33+166del	ENSP00000512377.1:n.33+138_33+166del
ENST00000696079.1:c.33+138_33+166del	ENSP00000512378.1:n.33+138_33+166del
ENST00000696080.1:c.33+138_33+166del	ENSP00000512379.1:n.33+138_33+166del
ENST00000696084.1:n.134+138_134+166del
ENST00000696104.1:c.33+138_33+166del	ENSP00000512399.1:n.33+138_33+166del
ENST00000696105.1:c.33+138_33+166del	ENSP00000512400.1:n.33+138_33+166del
ENST00000372874.9:c.33+138_33+166del MANE Select	ENSP00000361965.4:n.33+138_33+166del
ENST00000372874.8:c.33+138_33+166del	ENSP00000361965.4:n.33+138_33+166del
ENST00000492931.5:n.117+138_117+166del
ENST00000535573.1:n.332+465_332+493del
ENST00000536076.1:n.213+465_213+493del
ENST00000536532.5:c.33+138_33+166del	ENSP00000440946.1:n.33+138_33+166del
ENST00000537820.1:c.33+138_33+166del	ENSP00000441818.1:n.33+138_33+166del
ENST00000539235.5:c.33+138_33+166del	ENSP00000446464.1:n.33+138_33+166del
ENST00000545776.5:n.87+138_87+166del
NM_000022.2:c.33+138_33+166del , LRG_16t1:c.33+138_33+166del	NP_000013.2:n.33+138_33+166del
XM_005260236.2:c.33+138_33+166del	XP_005260293.1:n.33+138_33+166del
XM_011528478.1:c.-257+138_-257+166del	XP_011526780.1:n.-257+138_-257+166del
XM_011528479.1:c.-257+465_-257+493del	XP_011526781.1:n.-257+465_-257+493del
XR_244129.1:n.87+138_87+166del
NM_000022.3:c.33+138_33+166del	NP_000013.2:n.33+138_33+166del
NM_001322050.1:c.-257+138_-257+166del	NP_001308979.1:n.-257+138_-257+166del
NM_001322051.1:c.33+138_33+166del	NP_001308980.1:n.33+138_33+166del
NR_136160.1:n.184+138_184+166del
NM_000022.4:c.33+138_33+166del MANE Select	NP_000013.2:n.33+138_33+166del
NM_001322050.2:c.-257+138_-257+166del	NP_001308979.1:n.-257+138_-257+166del
NM_001322051.2:c.33+138_33+166del	NP_001308980.1:n.33+138_33+166del
NR_136160.2:n.125+138_125+166del