Canonical Allele Identifier: CA744688115

Gene: ADA

Linked Data

• dbSNP Id: rs1280685298
• gnomAD v3: 20-44636317-GAA-G
• gnomAD v4: 20-44636317-GAA-G
• MyVariant Identifiers: chr20:g.43264959_43264960del (hg19) ; chr20:g.44636318_44636319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636319_44636320del , CM000682.2:g.44636319_44636320del	GRCh38
NC_000020.10:g.43264960_43264961del , CM000682.1:g.43264960_43264961del	GRCh37
NC_000020.9:g.42698374_42698375del	NCBI36
NG_007385.1:g.20417_20418del , LRG_16:g.20417_20418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.125-31_125-30del
ENST00000536076.2:c.-120-31_-120-30del	ENSP00000512234.1:n.-120-31_-120-30del
ENST00000536532.6:c.34-31_34-30del	ENSP00000440946.1:n.34-31_34-30del
ENST00000537820.2:c.34-31_34-30del	ENSP00000441818.1:n.34-31_34-30del
ENST00000539235.6:c.34-31_34-30del	ENSP00000446464.1:n.34-31_34-30del
ENST00000695889.1:c.34-31_34-30del	ENSP00000512240.1:n.34-31_34-30del
ENST00000695891.1:c.34-31_34-30del	ENSP00000512241.1:n.34-31_34-30del
ENST00000695927.1:c.112-31_112-30del	ENSP00000512270.1:n.112-31_112-30del
ENST00000695949.1:c.34-31_34-30del	ENSP00000512281.1:n.34-31_34-30del
ENST00000695957.1:c.34-31_34-30del	ENSP00000512286.1:n.34-31_34-30del
ENST00000695991.1:c.34-31_34-30del	ENSP00000512314.1:n.34-31_34-30del
ENST00000695992.1:c.34-31_34-30del	ENSP00000512315.1:n.34-31_34-30del
ENST00000695993.1:c.34-31_34-30del	ENSP00000512316.1:n.34-31_34-30del
ENST00000695994.1:c.34-31_34-30del	ENSP00000512317.1:n.34-31_34-30del
ENST00000695995.1:c.34-31_34-30del	ENSP00000512318.1:n.34-31_34-30del
ENST00000695996.1:n.105-31_105-30del
ENST00000695997.1:n.105-31_105-30del
ENST00000696003.1:n.126-31_126-30del
ENST00000696004.1:n.126-31_126-30del
ENST00000696006.1:c.34-31_34-30del	ENSP00000512325.1:n.34-31_34-30del
ENST00000696009.1:n.145-31_145-30del
ENST00000696010.1:n.147-31_147-30del
ENST00000696017.1:c.34-31_34-30del	ENSP00000512333.1:n.34-31_34-30del
ENST00000696034.1:c.34-31_34-30del	ENSP00000512343.1:n.34-31_34-30del
ENST00000696038.1:c.34-31_34-30del	ENSP00000512344.1:n.34-31_34-30del
ENST00000696039.1:n.322-31_322-30del
ENST00000696058.1:c.34-31_34-30del	ENSP00000512361.1:n.34-31_34-30del
ENST00000696059.1:c.141-31_141-30del	ENSP00000512362.1:n.141-31_141-30del
ENST00000696060.1:c.34-31_34-30del	ENSP00000512363.1:n.34-31_34-30del
ENST00000696061.1:c.34-31_34-30del	ENSP00000512364.1:n.34-31_34-30del
ENST00000696062.1:c.97-31_97-30del	ENSP00000512365.1:n.97-31_97-30del
ENST00000696063.1:c.109-31_109-30del	ENSP00000512366.1:n.109-31_109-30del
ENST00000696064.1:c.-117-31_-117-30del	ENSP00000512367.1:n.-117-31_-117-30del
ENST00000696065.1:c.-120-31_-120-30del	ENSP00000512368.1:n.-120-31_-120-30del
ENST00000696075.1:c.34-31_34-30del	ENSP00000512374.1:n.34-31_34-30del
ENST00000696076.1:c.34-31_34-30del	ENSP00000512375.1:n.34-31_34-30del
ENST00000696077.1:c.34-31_34-30del	ENSP00000512376.1:n.34-31_34-30del
ENST00000696078.1:c.34-31_34-30del	ENSP00000512377.1:n.34-31_34-30del
ENST00000696079.1:c.34-31_34-30del	ENSP00000512378.1:n.34-31_34-30del
ENST00000696080.1:c.34-31_34-30del	ENSP00000512379.1:n.34-31_34-30del
ENST00000696082.1:c.112-31_112-30del	ENSP00000512380.1:n.112-31_112-30del
ENST00000696084.1:n.135-31_135-30del
ENST00000696104.1:c.34-31_34-30del	ENSP00000512399.1:n.34-31_34-30del
ENST00000696105.1:c.34-31_34-30del	ENSP00000512400.1:n.34-31_34-30del
ENST00000372874.9:c.34-31_34-30del MANE Select	ENSP00000361965.4:n.34-31_34-30del
ENST00000372874.8:c.34-31_34-30del	ENSP00000361965.4:n.34-31_34-30del
ENST00000492931.5:n.118-31_118-30del
ENST00000535573.1:n.333-31_333-30del
ENST00000536076.1:n.214-31_214-30del
ENST00000536532.5:c.34-31_34-30del	ENSP00000440946.1:n.34-31_34-30del
ENST00000537820.1:c.34-31_34-30del	ENSP00000441818.1:n.34-31_34-30del
ENST00000539235.5:c.34-31_34-30del	ENSP00000446464.1:n.34-31_34-30del
ENST00000545776.5:n.88-31_88-30del
NM_000022.2:c.34-31_34-30del , LRG_16t1:c.34-31_34-30del	NP_000013.2:n.34-31_34-30del
XM_005260236.2:c.34-31_34-30del	XP_005260293.1:n.34-31_34-30del
XM_011528478.1:c.-256-31_-256-30del	XP_011526780.1:n.-256-31_-256-30del
XM_011528479.1:c.-256-31_-256-30del	XP_011526781.1:n.-256-31_-256-30del
XR_244129.1:n.88-31_88-30del
NM_000022.3:c.34-31_34-30del	NP_000013.2:n.34-31_34-30del
NM_001322050.1:c.-256-31_-256-30del	NP_001308979.1:n.-256-31_-256-30del
NM_001322051.1:c.34-31_34-30del	NP_001308980.1:n.34-31_34-30del
NR_136160.1:n.185-31_185-30del
NM_000022.4:c.34-31_34-30del MANE Select	NP_000013.2:n.34-31_34-30del
NM_001322050.2:c.-256-31_-256-30del	NP_001308979.1:n.-256-31_-256-30del
NM_001322051.2:c.34-31_34-30del	NP_001308980.1:n.34-31_34-30del
NR_136160.2:n.126-31_126-30del