Canonical Allele Identifier: CA2365861815

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44635889_44635893delinsCTCTA , CM000682.2:g.44635889_44635893delinsCTCTA	GRCh38
NC_000020.10:g.43264530_43264534delinsCTCTA , CM000682.1:g.43264530_43264534delinsCTCTA	GRCh37
NC_000020.9:g.42697944_42697948delinsCTCTA	NCBI36
NG_007385.1:g.20843_20847delinsTAGAG , LRG_16:g.20843_20847delinsTAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.186+334_186+338delinsTAGAG
ENST00000536076.2:c.-59+334_-59+338delinsTAGAG	ENSP00000512234.1:n.-59+334_-59+338delinsTAGAG
ENST00000536532.6:c.95+334_95+338delinsTAGAG	ENSP00000440946.1:n.95+334_95+338delinsTAGAG
ENST00000537820.2:c.95+334_95+338delinsTAGAG	ENSP00000441818.1:n.95+334_95+338delinsTAGAG
ENST00000539235.6:c.95+334_95+338delinsTAGAG	ENSP00000446464.1:n.95+334_95+338delinsTAGAG
ENST00000695889.1:c.95+334_95+338delinsTAGAG	ENSP00000512240.1:n.95+334_95+338delinsTAGAG
ENST00000695891.1:c.95+334_95+338delinsTAGAG	ENSP00000512241.1:n.95+334_95+338delinsTAGAG
ENST00000695927.1:c.173+334_173+338delinsTAGAG	ENSP00000512270.1:n.173+334_173+338delinsTAGAG
ENST00000695949.1:c.95+334_95+338delinsTAGAG	ENSP00000512281.1:n.95+334_95+338delinsTAGAG
ENST00000695957.1:c.95+334_95+338delinsTAGAG	ENSP00000512286.1:n.95+334_95+338delinsTAGAG
ENST00000695991.1:c.95+334_95+338delinsTAGAG	ENSP00000512314.1:n.95+334_95+338delinsTAGAG
ENST00000695992.1:c.95+334_95+338delinsTAGAG	ENSP00000512315.1:n.95+334_95+338delinsTAGAG
ENST00000695993.1:c.95+334_95+338delinsTAGAG	ENSP00000512316.1:n.95+334_95+338delinsTAGAG
ENST00000695994.1:c.95+334_95+338delinsTAGAG	ENSP00000512317.1:n.95+334_95+338delinsTAGAG
ENST00000695995.1:c.95+334_95+338delinsTAGAG	ENSP00000512318.1:n.95+334_95+338delinsTAGAG
ENST00000695996.1:n.166+334_166+338delinsTAGAG
ENST00000695997.1:n.166+334_166+338delinsTAGAG
ENST00000696003.1:n.187+334_187+338delinsTAGAG
ENST00000696004.1:n.187+334_187+338delinsTAGAG
ENST00000696006.1:c.95+334_95+338delinsTAGAG	ENSP00000512325.1:n.95+334_95+338delinsTAGAG
ENST00000696007.1:c.62+334_62+338delinsTAGAG	ENSP00000512326.1:n.62+334_62+338delinsTAGAG
ENST00000696009.1:n.206+334_206+338delinsTAGAG
ENST00000696010.1:n.208+334_208+338delinsTAGAG
ENST00000696017.1:c.95+334_95+338delinsTAGAG	ENSP00000512333.1:n.95+334_95+338delinsTAGAG
ENST00000696034.1:c.95+334_95+338delinsTAGAG	ENSP00000512343.1:n.95+334_95+338delinsTAGAG
ENST00000696038.1:c.95+334_95+338delinsTAGAG	ENSP00000512344.1:n.95+334_95+338delinsTAGAG
ENST00000696039.1:n.383+334_383+338delinsTAGAG
ENST00000696058.1:c.95+334_95+338delinsTAGAG	ENSP00000512361.1:n.95+334_95+338delinsTAGAG
ENST00000696059.1:c.*40+334_*40+338delinsTAGAG	ENSP00000512362.1:n.*40+334_*40+338delinsTAGAG
ENST00000696060.1:c.95+334_95+338delinsTAGAG	ENSP00000512363.1:n.95+334_95+338delinsTAGAG
ENST00000696061.1:c.95+334_95+338delinsTAGAG	ENSP00000512364.1:n.95+334_95+338delinsTAGAG
ENST00000696062.1:c.158+334_158+338delinsTAGAG	ENSP00000512365.1:n.158+334_158+338delinsTAGAG
ENST00000696063.1:c.170+334_170+338delinsTAGAG	ENSP00000512366.1:n.170+334_170+338delinsTAGAG
ENST00000696064.1:c.-56+334_-56+338delinsTAGAG	ENSP00000512367.1:n.-56+334_-56+338delinsTAGAG
ENST00000696065.1:c.-59+334_-59+338delinsTAGAG	ENSP00000512368.1:n.-59+334_-59+338delinsTAGAG
ENST00000696075.1:c.*65+97_*65+101delinsTAGAG	ENSP00000512374.1:n.*65+97_*65+101delinsTAGAG
ENST00000696076.1:c.95+334_95+338delinsTAGAG	ENSP00000512375.1:n.95+334_95+338delinsTAGAG
ENST00000696077.1:c.95+334_95+338delinsTAGAG	ENSP00000512376.1:n.95+334_95+338delinsTAGAG
ENST00000696078.1:c.95+334_95+338delinsTAGAG	ENSP00000512377.1:n.95+334_95+338delinsTAGAG
ENST00000696079.1:c.95+334_95+338delinsTAGAG	ENSP00000512378.1:n.95+334_95+338delinsTAGAG
ENST00000696080.1:c.95+334_95+338delinsTAGAG	ENSP00000512379.1:n.95+334_95+338delinsTAGAG
ENST00000696082.1:c.173+334_173+338delinsTAGAG	ENSP00000512380.1:n.173+334_173+338delinsTAGAG
ENST00000696084.1:n.196+334_196+338delinsTAGAG
ENST00000696104.1:c.95+334_95+338delinsTAGAG	ENSP00000512399.1:n.95+334_95+338delinsTAGAG
ENST00000696105.1:c.95+334_95+338delinsTAGAG	ENSP00000512400.1:n.95+334_95+338delinsTAGAG
ENST00000372874.9:c.95+334_95+338delinsTAGAG MANE Select	ENSP00000361965.4:n.95+334_95+338delinsTAGAG
ENST00000372874.8:c.95+334_95+338delinsTAGAG	ENSP00000361965.4:n.95+334_95+338delinsTAGAG
ENST00000492931.5:n.179+334_179+338delinsTAGAG
ENST00000536076.1:n.275+334_275+338delinsTAGAG
ENST00000536532.5:c.95+334_95+338delinsTAGAG	ENSP00000440946.1:n.95+334_95+338delinsTAGAG
ENST00000537820.1:c.95+334_95+338delinsTAGAG	ENSP00000441818.1:n.95+334_95+338delinsTAGAG
ENST00000539235.5:c.95+334_95+338delinsTAGAG	ENSP00000446464.1:n.95+334_95+338delinsTAGAG
ENST00000545776.5:n.149+334_149+338delinsTAGAG
NM_000022.2:c.95+334_95+338delinsTAGAG , LRG_16t1:c.95+334_95+338delinsTAGAG	NP_000013.2:n.95+334_95+338delinsTAGAG
XM_005260236.2:c.95+334_95+338delinsTAGAG	XP_005260293.1:n.95+334_95+338delinsTAGAG
XM_011528478.1:c.-195+334_-195+338delinsTAGAG	XP_011526780.1:n.-195+334_-195+338delinsTAGAG
XM_011528479.1:c.-195+334_-195+338delinsTAGAG	XP_011526781.1:n.-195+334_-195+338delinsTAGAG
XR_244129.1:n.149+334_149+338delinsTAGAG
NM_000022.3:c.95+334_95+338delinsTAGAG	NP_000013.2:n.95+334_95+338delinsTAGAG
NM_001322050.1:c.-195+334_-195+338delinsTAGAG	NP_001308979.1:n.-195+334_-195+338delinsTAGAG
NM_001322051.1:c.95+334_95+338delinsTAGAG	NP_001308980.1:n.95+334_95+338delinsTAGAG
NR_136160.1:n.246+334_246+338delinsTAGAG
NM_000022.4:c.95+334_95+338delinsTAGAG MANE Select	NP_000013.2:n.95+334_95+338delinsTAGAG
NM_001322050.2:c.-195+334_-195+338delinsTAGAG	NP_001308979.1:n.-195+334_-195+338delinsTAGAG
NM_001322051.2:c.95+334_95+338delinsTAGAG	NP_001308980.1:n.95+334_95+338delinsTAGAG
NR_136160.2:n.187+334_187+338delinsTAGAG