Canonical Allele Identifier: CA2652991670

Gene: ADA

Linked Data

• gnomAD v4: 20-44635951-TGTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44635961_44635964del , CM000682.2:g.44635961_44635964del	GRCh38
NC_000020.10:g.43264602_43264605del , CM000682.1:g.43264602_43264605del	GRCh37
NC_000020.9:g.42698016_42698019del	NCBI36
NG_007385.1:g.20781_20784del , LRG_16:g.20781_20784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.186+272_186+275del
ENST00000536076.2:c.-59+272_-59+275del	ENSP00000512234.1:n.-59+272_-59+275del
ENST00000536532.6:c.95+272_95+275del	ENSP00000440946.1:n.95+272_95+275del
ENST00000537820.2:c.95+272_95+275del	ENSP00000441818.1:n.95+272_95+275del
ENST00000539235.6:c.95+272_95+275del	ENSP00000446464.1:n.95+272_95+275del
ENST00000695889.1:c.95+272_95+275del	ENSP00000512240.1:n.95+272_95+275del
ENST00000695891.1:c.95+272_95+275del	ENSP00000512241.1:n.95+272_95+275del
ENST00000695927.1:c.173+272_173+275del	ENSP00000512270.1:n.173+272_173+275del
ENST00000695949.1:c.95+272_95+275del	ENSP00000512281.1:n.95+272_95+275del
ENST00000695957.1:c.95+272_95+275del	ENSP00000512286.1:n.95+272_95+275del
ENST00000695991.1:c.95+272_95+275del	ENSP00000512314.1:n.95+272_95+275del
ENST00000695992.1:c.95+272_95+275del	ENSP00000512315.1:n.95+272_95+275del
ENST00000695993.1:c.95+272_95+275del	ENSP00000512316.1:n.95+272_95+275del
ENST00000695994.1:c.95+272_95+275del	ENSP00000512317.1:n.95+272_95+275del
ENST00000695995.1:c.95+272_95+275del	ENSP00000512318.1:n.95+272_95+275del
ENST00000695996.1:n.166+272_166+275del
ENST00000695997.1:n.166+272_166+275del
ENST00000696003.1:n.187+272_187+275del
ENST00000696004.1:n.187+272_187+275del
ENST00000696006.1:c.95+272_95+275del	ENSP00000512325.1:n.95+272_95+275del
ENST00000696007.1:c.62+272_62+275del	ENSP00000512326.1:n.62+272_62+275del
ENST00000696009.1:n.206+272_206+275del
ENST00000696010.1:n.208+272_208+275del
ENST00000696017.1:c.95+272_95+275del	ENSP00000512333.1:n.95+272_95+275del
ENST00000696034.1:c.95+272_95+275del	ENSP00000512343.1:n.95+272_95+275del
ENST00000696038.1:c.95+272_95+275del	ENSP00000512344.1:n.95+272_95+275del
ENST00000696039.1:n.383+272_383+275del
ENST00000696058.1:c.95+272_95+275del	ENSP00000512361.1:n.95+272_95+275del
ENST00000696059.1:c.*40+272_*40+275del	ENSP00000512362.1:n.*40+272_*40+275del
ENST00000696060.1:c.95+272_95+275del	ENSP00000512363.1:n.95+272_95+275del
ENST00000696061.1:c.95+272_95+275del	ENSP00000512364.1:n.95+272_95+275del
ENST00000696062.1:c.158+272_158+275del	ENSP00000512365.1:n.158+272_158+275del
ENST00000696063.1:c.170+272_170+275del	ENSP00000512366.1:n.170+272_170+275del
ENST00000696064.1:c.-56+272_-56+275del	ENSP00000512367.1:n.-56+272_-56+275del
ENST00000696065.1:c.-59+272_-59+275del	ENSP00000512368.1:n.-59+272_-59+275del
ENST00000696075.1:c.*65+35_*65+38del	ENSP00000512374.1:n.*65+35_*65+38del
ENST00000696076.1:c.95+272_95+275del	ENSP00000512375.1:n.95+272_95+275del
ENST00000696077.1:c.95+272_95+275del	ENSP00000512376.1:n.95+272_95+275del
ENST00000696078.1:c.95+272_95+275del	ENSP00000512377.1:n.95+272_95+275del
ENST00000696079.1:c.95+272_95+275del	ENSP00000512378.1:n.95+272_95+275del
ENST00000696080.1:c.95+272_95+275del	ENSP00000512379.1:n.95+272_95+275del
ENST00000696082.1:c.173+272_173+275del	ENSP00000512380.1:n.173+272_173+275del
ENST00000696084.1:n.196+272_196+275del
ENST00000696104.1:c.95+272_95+275del	ENSP00000512399.1:n.95+272_95+275del
ENST00000696105.1:c.95+272_95+275del	ENSP00000512400.1:n.95+272_95+275del
ENST00000372874.9:c.95+272_95+275del MANE Select	ENSP00000361965.4:n.95+272_95+275del
ENST00000372874.8:c.95+272_95+275del	ENSP00000361965.4:n.95+272_95+275del
ENST00000492931.5:n.179+272_179+275del
ENST00000536076.1:n.275+272_275+275del
ENST00000536532.5:c.95+272_95+275del	ENSP00000440946.1:n.95+272_95+275del
ENST00000537820.1:c.95+272_95+275del	ENSP00000441818.1:n.95+272_95+275del
ENST00000539235.5:c.95+272_95+275del	ENSP00000446464.1:n.95+272_95+275del
ENST00000545776.5:n.149+272_149+275del
NM_000022.2:c.95+272_95+275del , LRG_16t1:c.95+272_95+275del	NP_000013.2:n.95+272_95+275del
XM_005260236.2:c.95+272_95+275del	XP_005260293.1:n.95+272_95+275del
XM_011528478.1:c.-195+272_-195+275del	XP_011526780.1:n.-195+272_-195+275del
XM_011528479.1:c.-195+272_-195+275del	XP_011526781.1:n.-195+272_-195+275del
XR_244129.1:n.149+272_149+275del
NM_000022.3:c.95+272_95+275del	NP_000013.2:n.95+272_95+275del
NM_001322050.1:c.-195+272_-195+275del	NP_001308979.1:n.-195+272_-195+275del
NM_001322051.1:c.95+272_95+275del	NP_001308980.1:n.95+272_95+275del
NR_136160.1:n.246+272_246+275del
NM_000022.4:c.95+272_95+275del MANE Select	NP_000013.2:n.95+272_95+275del
NM_001322050.2:c.-195+272_-195+275del	NP_001308979.1:n.-195+272_-195+275del
NM_001322051.2:c.95+272_95+275del	NP_001308980.1:n.95+272_95+275del
NR_136160.2:n.187+272_187+275del