Canonical Allele Identifier: CA2365862028

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636317_44636319delinsGAA , CM000682.2:g.44636317_44636319delinsGAA	GRCh38
NC_000020.10:g.43264958_43264960delinsGAA , CM000682.1:g.43264958_43264960delinsGAA	GRCh37
NC_000020.9:g.42698372_42698374delinsGAA	NCBI36
NG_007385.1:g.20417_20419delinsTTC , LRG_16:g.20417_20419delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.125-31_125-29delinsTTC
ENST00000536076.2:c.-120-31_-120-29delinsTTC	ENSP00000512234.1:n.-120-31_-120-29delinsTTC
ENST00000536532.6:c.34-31_34-29delinsTTC	ENSP00000440946.1:n.34-31_34-29delinsTTC
ENST00000537820.2:c.34-31_34-29delinsTTC	ENSP00000441818.1:n.34-31_34-29delinsTTC
ENST00000539235.6:c.34-31_34-29delinsTTC	ENSP00000446464.1:n.34-31_34-29delinsTTC
ENST00000695889.1:c.34-31_34-29delinsTTC	ENSP00000512240.1:n.34-31_34-29delinsTTC
ENST00000695891.1:c.34-31_34-29delinsTTC	ENSP00000512241.1:n.34-31_34-29delinsTTC
ENST00000695927.1:c.112-31_112-29delinsTTC	ENSP00000512270.1:n.112-31_112-29delinsTTC
ENST00000695949.1:c.34-31_34-29delinsTTC	ENSP00000512281.1:n.34-31_34-29delinsTTC
ENST00000695957.1:c.34-31_34-29delinsTTC	ENSP00000512286.1:n.34-31_34-29delinsTTC
ENST00000695991.1:c.34-31_34-29delinsTTC	ENSP00000512314.1:n.34-31_34-29delinsTTC
ENST00000695992.1:c.34-31_34-29delinsTTC	ENSP00000512315.1:n.34-31_34-29delinsTTC
ENST00000695993.1:c.34-31_34-29delinsTTC	ENSP00000512316.1:n.34-31_34-29delinsTTC
ENST00000695994.1:c.34-31_34-29delinsTTC	ENSP00000512317.1:n.34-31_34-29delinsTTC
ENST00000695995.1:c.34-31_34-29delinsTTC	ENSP00000512318.1:n.34-31_34-29delinsTTC
ENST00000695996.1:n.105-31_105-29delinsTTC
ENST00000695997.1:n.105-31_105-29delinsTTC
ENST00000696003.1:n.126-31_126-29delinsTTC
ENST00000696004.1:n.126-31_126-29delinsTTC
ENST00000696006.1:c.34-31_34-29delinsTTC	ENSP00000512325.1:n.34-31_34-29delinsTTC
ENST00000696009.1:n.145-31_145-29delinsTTC
ENST00000696010.1:n.147-31_147-29delinsTTC
ENST00000696017.1:c.34-31_34-29delinsTTC	ENSP00000512333.1:n.34-31_34-29delinsTTC
ENST00000696034.1:c.34-31_34-29delinsTTC	ENSP00000512343.1:n.34-31_34-29delinsTTC
ENST00000696038.1:c.34-31_34-29delinsTTC	ENSP00000512344.1:n.34-31_34-29delinsTTC
ENST00000696039.1:n.322-31_322-29delinsTTC
ENST00000696058.1:c.34-31_34-29delinsTTC	ENSP00000512361.1:n.34-31_34-29delinsTTC
ENST00000696059.1:c.141-31_141-29delinsTTC	ENSP00000512362.1:n.141-31_141-29delinsTTC
ENST00000696060.1:c.34-31_34-29delinsTTC	ENSP00000512363.1:n.34-31_34-29delinsTTC
ENST00000696061.1:c.34-31_34-29delinsTTC	ENSP00000512364.1:n.34-31_34-29delinsTTC
ENST00000696062.1:c.97-31_97-29delinsTTC	ENSP00000512365.1:n.97-31_97-29delinsTTC
ENST00000696063.1:c.109-31_109-29delinsTTC	ENSP00000512366.1:n.109-31_109-29delinsTTC
ENST00000696064.1:c.-117-31_-117-29delinsTTC	ENSP00000512367.1:n.-117-31_-117-29delinsTTC
ENST00000696065.1:c.-120-31_-120-29delinsTTC	ENSP00000512368.1:n.-120-31_-120-29delinsTTC
ENST00000696075.1:c.34-31_34-29delinsTTC	ENSP00000512374.1:n.34-31_34-29delinsTTC
ENST00000696076.1:c.34-31_34-29delinsTTC	ENSP00000512375.1:n.34-31_34-29delinsTTC
ENST00000696077.1:c.34-31_34-29delinsTTC	ENSP00000512376.1:n.34-31_34-29delinsTTC
ENST00000696078.1:c.34-31_34-29delinsTTC	ENSP00000512377.1:n.34-31_34-29delinsTTC
ENST00000696079.1:c.34-31_34-29delinsTTC	ENSP00000512378.1:n.34-31_34-29delinsTTC
ENST00000696080.1:c.34-31_34-29delinsTTC	ENSP00000512379.1:n.34-31_34-29delinsTTC
ENST00000696082.1:c.112-31_112-29delinsTTC	ENSP00000512380.1:n.112-31_112-29delinsTTC
ENST00000696084.1:n.135-31_135-29delinsTTC
ENST00000696104.1:c.34-31_34-29delinsTTC	ENSP00000512399.1:n.34-31_34-29delinsTTC
ENST00000696105.1:c.34-31_34-29delinsTTC	ENSP00000512400.1:n.34-31_34-29delinsTTC
ENST00000372874.9:c.34-31_34-29delinsTTC MANE Select	ENSP00000361965.4:n.34-31_34-29delinsTTC
ENST00000372874.8:c.34-31_34-29delinsTTC	ENSP00000361965.4:n.34-31_34-29delinsTTC
ENST00000492931.5:n.118-31_118-29delinsTTC
ENST00000535573.1:n.333-31_333-29delinsTTC
ENST00000536076.1:n.214-31_214-29delinsTTC
ENST00000536532.5:c.34-31_34-29delinsTTC	ENSP00000440946.1:n.34-31_34-29delinsTTC
ENST00000537820.1:c.34-31_34-29delinsTTC	ENSP00000441818.1:n.34-31_34-29delinsTTC
ENST00000539235.5:c.34-31_34-29delinsTTC	ENSP00000446464.1:n.34-31_34-29delinsTTC
ENST00000545776.5:n.88-31_88-29delinsTTC
NM_000022.2:c.34-31_34-29delinsTTC , LRG_16t1:c.34-31_34-29delinsTTC	NP_000013.2:n.34-31_34-29delinsTTC
XM_005260236.2:c.34-31_34-29delinsTTC	XP_005260293.1:n.34-31_34-29delinsTTC
XM_011528478.1:c.-256-31_-256-29delinsTTC	XP_011526780.1:n.-256-31_-256-29delinsTTC
XM_011528479.1:c.-256-31_-256-29delinsTTC	XP_011526781.1:n.-256-31_-256-29delinsTTC
XR_244129.1:n.88-31_88-29delinsTTC
NM_000022.3:c.34-31_34-29delinsTTC	NP_000013.2:n.34-31_34-29delinsTTC
NM_001322050.1:c.-256-31_-256-29delinsTTC	NP_001308979.1:n.-256-31_-256-29delinsTTC
NM_001322051.1:c.34-31_34-29delinsTTC	NP_001308980.1:n.34-31_34-29delinsTTC
NR_136160.1:n.185-31_185-29delinsTTC
NM_000022.4:c.34-31_34-29delinsTTC MANE Select	NP_000013.2:n.34-31_34-29delinsTTC
NM_001322050.2:c.-256-31_-256-29delinsTTC	NP_001308979.1:n.-256-31_-256-29delinsTTC
NM_001322051.2:c.34-31_34-29delinsTTC	NP_001308980.1:n.34-31_34-29delinsTTC
NR_136160.2:n.126-31_126-29delinsTTC