Canonical Allele Identifier: CA636174169

Gene: ADA

Linked Data

• ClinVar Variation Id: 2747975
• ClinVar RCV Id: RCV003497781
• dbSNP Id: rs1568844677
• gnomAD v2: 20-43252941-T-TA
• gnomAD v4: 20-44624300-T-TA
• MyVariant Identifiers: chr20:g.43252941_43252942insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624301dup , CM000682.2:g.44624301dup	GRCh38
NC_000020.10:g.43252942dup , CM000682.1:g.43252942dup	GRCh37
NC_000020.9:g.42686356dup	NCBI36
NG_007385.1:g.32435dup , LRG_16:g.32435dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.598dup
ENST00000536076.2:c.354dup	ENSP00000512234.1:p.Lys119Ter
ENST00000536532.6:c.507dup	ENSP00000440946.1:p.Lys170Ter
ENST00000537820.2:c.507dup	ENSP00000441818.1:p.Lys170Ter
ENST00000539235.6:c.219-1223dup	ENSP00000446464.1:n.219-1223dup
ENST00000695889.1:c.219-1371dup	ENSP00000512240.1:n.219-1371dup
ENST00000695890.1:n.2310dup
ENST00000695891.1:c.219-1371dup	ENSP00000512241.1:n.219-1371dup
ENST00000695927.1:c.585dup	ENSP00000512270.1:p.Lys196Ter
ENST00000695949.1:c.504dup	ENSP00000512281.1:p.Lys169Ter
ENST00000695957.1:c.391dup	ENSP00000512286.1:p.Ter131LeuextTer10
ENST00000695991.1:c.217-1371dup	ENSP00000512314.1:n.217-1371dup
ENST00000695992.1:c.507dup	ENSP00000512315.1:p.Lys170Ter
ENST00000695993.1:c.507dup	ENSP00000512316.1:p.Lys170Ter
ENST00000695994.1:c.507dup	ENSP00000512317.1:p.Lys170Ter
ENST00000695995.1:c.217-1223dup	ENSP00000512318.1:n.217-1223dup
ENST00000695996.1:n.578dup
ENST00000695997.1:n.462dup
ENST00000696003.1:n.599dup
ENST00000696004.1:n.599dup
ENST00000696005.1:c.29dup
ENST00000696006.1:c.507dup	ENSP00000512325.1:p.Lys170Ter
ENST00000696007.1:c.358dup	ENSP00000512326.1:p.Ter120LeuextTer10
ENST00000696008.1:n.1662dup
ENST00000696009.1:n.1857dup
ENST00000696017.1:c.504dup	ENSP00000512333.1:p.Lys169Ter
ENST00000696034.1:c.507dup	ENSP00000512343.1:p.Lys170Ter
ENST00000696035.1:n.617dup
ENST00000696036.1:n.1197dup
ENST00000696037.1:n.2184dup
ENST00000696038.1:c.*253dup	ENSP00000512344.1:n.*253dup
ENST00000696039.1:n.795dup
ENST00000696058.1:c.507dup	ENSP00000512361.1:p.Lys170Ter
ENST00000696059.1:c.*452dup	ENSP00000512362.1:n.*452dup
ENST00000696060.1:c.507dup	ENSP00000512363.1:p.Lys170Ter
ENST00000696061.1:c.504dup	ENSP00000512364.1:p.Lys169Ter
ENST00000696062.1:c.570dup	ENSP00000512365.1:p.Lys191Ter
ENST00000696063.1:c.582dup	ENSP00000512366.1:p.Lys195Ter
ENST00000696064.1:c.354dup	ENSP00000512367.1:p.Lys119Ter
ENST00000696065.1:c.66-1371dup	ENSP00000512368.1:n.66-1371dup
ENST00000696074.1:n.123dup
ENST00000696075.1:c.*477dup	ENSP00000512374.1:n.*477dup
ENST00000696076.1:c.507dup	ENSP00000512375.1:p.Lys170Ter
ENST00000696077.1:c.504dup	ENSP00000512376.1:p.Lys169Ter
ENST00000696078.1:c.507dup	ENSP00000512377.1:p.Lys170Ter
ENST00000696079.1:c.507dup	ENSP00000512378.1:p.Lys170Ter
ENST00000696080.1:c.507dup	ENSP00000512379.1:p.Lys170Ter
ENST00000696081.1:n.626dup
ENST00000696082.1:c.585dup	ENSP00000512380.1:p.Lys196Ter
ENST00000696083.1:n.1388dup
ENST00000696084.1:n.608dup
ENST00000696104.1:c.363-1371dup	ENSP00000512399.1:n.363-1371dup
ENST00000696105.1:c.*48dup	ENSP00000512400.1:n.*48dup
ENST00000372874.9:c.507dup MANE Select	ENSP00000361965.4:p.Lys170Ter
ENST00000372874.8:c.507dup	ENSP00000361965.4:p.Lys170Ter
ENST00000464097.5:n.181dup
ENST00000492931.5:n.591dup
ENST00000536532.5:c.507dup	ENSP00000440946.1:p.Lys170Ter
ENST00000537820.1:c.507dup	ENSP00000441818.1:p.Lys170Ter
ENST00000539235.5:c.219-1223dup	ENSP00000446464.1:n.219-1223dup
NM_000022.2:c.507dup , LRG_16t1:c.507dup	NP_000013.2:p.Lys170Ter
XM_005260236.2:c.507dup	XP_005260293.1:p.Lys170Ter
XM_011528478.1:c.102dup	XP_011526780.1:p.Lys35Ter
XM_011528479.1:c.102dup	XP_011526781.1:p.Lys35Ter
XR_244129.1:n.561dup
NM_000022.3:c.507dup	NP_000013.2:p.Lys170Ter
NM_001322050.1:c.102dup	NP_001308979.1:p.Lys35Ter
NM_001322051.1:c.507dup	NP_001308980.1:p.Lys170Ter
NR_136160.1:n.658dup
NM_000022.4:c.507dup MANE Select	NP_000013.2:p.Lys170Ter
NM_001322050.2:c.102dup	NP_001308979.1:p.Lys35Ter
NM_001322051.2:c.507dup	NP_001308980.1:p.Lys170Ter
NR_136160.2:n.599dup