Canonical Allele Identifier: CA2573157145

Gene: ADA

Linked Data

• ClinVar Variation Id: 1523684
• ClinVar RCV Id: RCV002039064
• dbSNP Id: rs2145338174

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636285_44636286delinsTT , CM000682.2:g.44636285_44636286delinsTT	GRCh38
NC_000020.10:g.43264926_43264927delinsTT , CM000682.1:g.43264926_43264927delinsTT	GRCh37
NC_000020.9:g.42698340_42698341delinsTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.127_128delinsAA
ENST00000536076.2:c.-118_-117delinsAA	ENSP00000512234.1:n.-118_-117delinsAA
ENST00000536532.6:c.36_37delinsAA	ENSP00000440946.1:p.Glu13Lys
ENST00000537820.2:c.36_37delinsAA	ENSP00000441818.1:p.Glu13Lys
ENST00000539235.6:c.36_37delinsAA	ENSP00000446464.1:p.Glu13Lys
ENST00000695889.1:c.36_37delinsAA	ENSP00000512240.1:p.Glu13Lys
ENST00000695891.1:c.36_37delinsAA	ENSP00000512241.1:p.Glu13Lys
ENST00000695927.1:c.114_115delinsAA	ENSP00000512270.1:p.Glu39Lys
ENST00000695949.1:c.36_37delinsAA	ENSP00000512281.1:p.Glu13Lys
ENST00000695957.1:c.36_37delinsAA	ENSP00000512286.1:p.Glu13Lys
ENST00000695991.1:c.36_37delinsAA	ENSP00000512314.1:p.Glu13Lys
ENST00000695992.1:c.36_37delinsAA	ENSP00000512315.1:p.Glu13Lys
ENST00000695993.1:c.36_37delinsAA	ENSP00000512316.1:p.Glu13Lys
ENST00000695994.1:c.36_37delinsAA	ENSP00000512317.1:p.Glu13Lys
ENST00000695995.1:c.36_37delinsAA	ENSP00000512318.1:p.Glu13Lys
ENST00000695996.1:n.107_108delinsAA
ENST00000695997.1:n.107_108delinsAA
ENST00000696003.1:n.128_129delinsAA
ENST00000696004.1:n.128_129delinsAA
ENST00000696006.1:c.36_37delinsAA	ENSP00000512325.1:p.Glu13Lys
ENST00000696007.1:c.3_4delinsAA	ENSP00000512326.1:p.Glu2Lys
ENST00000696009.1:n.147_148delinsAA
ENST00000696010.1:n.149_150delinsAA
ENST00000696017.1:c.36_37delinsAA	ENSP00000512333.1:p.Glu13Lys
ENST00000696034.1:c.36_37delinsAA	ENSP00000512343.1:p.Glu13Lys
ENST00000696038.1:c.36_37delinsAA	ENSP00000512344.1:p.Glu13Lys
ENST00000696039.1:n.324_325delinsAA
ENST00000696058.1:c.36_37delinsAA	ENSP00000512361.1:p.Glu13Lys
ENST00000696059.1:c.143_144delinsAA	ENSP00000512362.1:p.Trp48Ter
ENST00000696060.1:c.36_37delinsAA	ENSP00000512363.1:p.Glu13Lys
ENST00000696061.1:c.36_37delinsAA	ENSP00000512364.1:p.Glu13Lys
ENST00000696062.1:c.99_100delinsAA	ENSP00000512365.1:p.Glu34Lys
ENST00000696063.1:c.111_112delinsAA	ENSP00000512366.1:p.Glu38Lys
ENST00000696064.1:c.-115_-114delinsAA	ENSP00000512367.1:n.-115_-114delinsAA
ENST00000696065.1:c.-118_-117delinsAA	ENSP00000512368.1:n.-118_-117delinsAA
ENST00000696075.1:c.36_37delinsAA	ENSP00000512374.1:p.Glu13Lys
ENST00000696076.1:c.36_37delinsAA	ENSP00000512375.1:p.Glu13Lys
ENST00000696077.1:c.36_37delinsAA	ENSP00000512376.1:p.Glu13Lys
ENST00000696078.1:c.36_37delinsAA	ENSP00000512377.1:p.Glu13Lys
ENST00000696079.1:c.36_37delinsAA	ENSP00000512378.1:p.Glu13Lys
ENST00000696080.1:c.36_37delinsAA	ENSP00000512379.1:p.Glu13Lys
ENST00000696082.1:c.114_115delinsAA	ENSP00000512380.1:p.Glu39Lys
ENST00000696084.1:n.137_138delinsAA
ENST00000696104.1:c.36_37delinsAA	ENSP00000512399.1:p.Glu13Lys
ENST00000696105.1:c.36_37delinsAA	ENSP00000512400.1:p.Glu13Lys
ENST00000372874.9:c.36_37delinsAA MANE Select	ENSP00000361965.4:p.Glu13Lys
ENST00000372874.8:c.36_37delinsAA	ENSP00000361965.4:p.Glu13Lys
ENST00000492931.5:n.120_121delinsAA
ENST00000535573.1:n.335_336delinsAA
ENST00000536076.1:n.216_217delinsAA
ENST00000536532.5:c.36_37delinsAA	ENSP00000440946.1:p.Glu13Lys
ENST00000537820.1:c.36_37delinsAA	ENSP00000441818.1:p.Glu13Lys
ENST00000539235.5:c.36_37delinsAA	ENSP00000446464.1:p.Glu13Lys
ENST00000545776.5:n.90_91delinsAA
XM_005260236.2:c.36_37delinsAA	XP_005260293.1:p.Glu13Lys
XM_011528478.1:c.-254_-253delinsAA	XP_011526780.1:n.-254_-253delinsAA
XM_011528479.1:c.-254_-253delinsAA	XP_011526781.1:n.-254_-253delinsAA
XR_244129.1:n.90_91delinsAA
NM_000022.4:c.36_37delinsAA MANE Select	NP_000013.2:p.Glu13Lys
NM_001322050.2:c.-254_-253delinsAA	NP_001308979.1:n.-254_-253delinsAA
NM_001322051.2:c.36_37delinsAA	NP_001308980.1:p.Glu13Lys
NR_136160.2:n.128_129delinsAA