Canonical Allele Identifier: CA9871801

Gene: ADA

Linked Data

• dbSNP Id: rs746428039
• ExAC: 20:43264963 GGA / G
• gnomAD v2: 20-43264963-GGA-G
• gnomAD v3: 20-44636322-GGA-G
• gnomAD v4: 20-44636322-GGA-G
• MyVariant Identifiers: chr20:g.43264964_43264965del (hg19) ; chr20:g.44636324_44636325del (hg38) ; chr20:g.44636323_44636324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636331_44636332del , CM000682.2:g.44636331_44636332del	GRCh38
NC_000020.10:g.43264972_43264973del , CM000682.1:g.43264972_43264973del	GRCh37
NC_000020.9:g.42698386_42698387del	NCBI36
NG_007385.1:g.20412_20413del , LRG_16:g.20412_20413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.125-36_125-35del
ENST00000536076.2:c.-120-36_-120-35del	ENSP00000512234.1:n.-120-36_-120-35del
ENST00000536532.6:c.34-36_34-35del	ENSP00000440946.1:n.34-36_34-35del
ENST00000537820.2:c.34-36_34-35del	ENSP00000441818.1:n.34-36_34-35del
ENST00000539235.6:c.34-36_34-35del	ENSP00000446464.1:n.34-36_34-35del
ENST00000695889.1:c.34-36_34-35del	ENSP00000512240.1:n.34-36_34-35del
ENST00000695891.1:c.34-36_34-35del	ENSP00000512241.1:n.34-36_34-35del
ENST00000695927.1:c.112-36_112-35del	ENSP00000512270.1:n.112-36_112-35del
ENST00000695949.1:c.34-36_34-35del	ENSP00000512281.1:n.34-36_34-35del
ENST00000695957.1:c.34-36_34-35del	ENSP00000512286.1:n.34-36_34-35del
ENST00000695991.1:c.34-36_34-35del	ENSP00000512314.1:n.34-36_34-35del
ENST00000695992.1:c.34-36_34-35del	ENSP00000512315.1:n.34-36_34-35del
ENST00000695993.1:c.34-36_34-35del	ENSP00000512316.1:n.34-36_34-35del
ENST00000695994.1:c.34-36_34-35del	ENSP00000512317.1:n.34-36_34-35del
ENST00000695995.1:c.34-36_34-35del	ENSP00000512318.1:n.34-36_34-35del
ENST00000695996.1:n.105-36_105-35del
ENST00000695997.1:n.105-36_105-35del
ENST00000696003.1:n.126-36_126-35del
ENST00000696004.1:n.126-36_126-35del
ENST00000696006.1:c.34-36_34-35del	ENSP00000512325.1:n.34-36_34-35del
ENST00000696009.1:n.145-36_145-35del
ENST00000696010.1:n.147-36_147-35del
ENST00000696017.1:c.34-36_34-35del	ENSP00000512333.1:n.34-36_34-35del
ENST00000696034.1:c.34-36_34-35del	ENSP00000512343.1:n.34-36_34-35del
ENST00000696038.1:c.34-36_34-35del	ENSP00000512344.1:n.34-36_34-35del
ENST00000696039.1:n.322-36_322-35del
ENST00000696058.1:c.34-36_34-35del	ENSP00000512361.1:n.34-36_34-35del
ENST00000696059.1:c.141-36_141-35del	ENSP00000512362.1:n.141-36_141-35del
ENST00000696060.1:c.34-36_34-35del	ENSP00000512363.1:n.34-36_34-35del
ENST00000696061.1:c.34-36_34-35del	ENSP00000512364.1:n.34-36_34-35del
ENST00000696062.1:c.97-36_97-35del	ENSP00000512365.1:n.97-36_97-35del
ENST00000696063.1:c.109-36_109-35del	ENSP00000512366.1:n.109-36_109-35del
ENST00000696064.1:c.-117-36_-117-35del	ENSP00000512367.1:n.-117-36_-117-35del
ENST00000696065.1:c.-120-36_-120-35del	ENSP00000512368.1:n.-120-36_-120-35del
ENST00000696075.1:c.34-36_34-35del	ENSP00000512374.1:n.34-36_34-35del
ENST00000696076.1:c.34-36_34-35del	ENSP00000512375.1:n.34-36_34-35del
ENST00000696077.1:c.34-36_34-35del	ENSP00000512376.1:n.34-36_34-35del
ENST00000696078.1:c.34-36_34-35del	ENSP00000512377.1:n.34-36_34-35del
ENST00000696079.1:c.34-36_34-35del	ENSP00000512378.1:n.34-36_34-35del
ENST00000696080.1:c.34-36_34-35del	ENSP00000512379.1:n.34-36_34-35del
ENST00000696082.1:c.112-36_112-35del	ENSP00000512380.1:n.112-36_112-35del
ENST00000696084.1:n.135-36_135-35del
ENST00000696104.1:c.34-36_34-35del	ENSP00000512399.1:n.34-36_34-35del
ENST00000696105.1:c.34-36_34-35del	ENSP00000512400.1:n.34-36_34-35del
ENST00000372874.9:c.34-36_34-35del MANE Select	ENSP00000361965.4:n.34-36_34-35del
ENST00000372874.8:c.34-36_34-35del	ENSP00000361965.4:n.34-36_34-35del
ENST00000492931.5:n.118-36_118-35del
ENST00000535573.1:n.333-36_333-35del
ENST00000536076.1:n.214-36_214-35del
ENST00000536532.5:c.34-36_34-35del	ENSP00000440946.1:n.34-36_34-35del
ENST00000537820.1:c.34-36_34-35del	ENSP00000441818.1:n.34-36_34-35del
ENST00000539235.5:c.34-36_34-35del	ENSP00000446464.1:n.34-36_34-35del
ENST00000545776.5:n.88-36_88-35del
NM_000022.2:c.34-36_34-35del , LRG_16t1:c.34-36_34-35del	NP_000013.2:n.34-36_34-35del
XM_005260236.2:c.34-36_34-35del	XP_005260293.1:n.34-36_34-35del
XM_011528478.1:c.-256-36_-256-35del	XP_011526780.1:n.-256-36_-256-35del
XM_011528479.1:c.-256-36_-256-35del	XP_011526781.1:n.-256-36_-256-35del
XR_244129.1:n.88-36_88-35del
NM_000022.3:c.34-36_34-35del	NP_000013.2:n.34-36_34-35del
NM_001322050.1:c.-256-36_-256-35del	NP_001308979.1:n.-256-36_-256-35del
NM_001322051.1:c.34-36_34-35del	NP_001308980.1:n.34-36_34-35del
NR_136160.1:n.185-36_185-35del
NM_000022.4:c.34-36_34-35del MANE Select	NP_000013.2:n.34-36_34-35del
NM_001322050.2:c.-256-36_-256-35del	NP_001308979.1:n.-256-36_-256-35del
NM_001322051.2:c.34-36_34-35del	NP_001308980.1:n.34-36_34-35del
NR_136160.2:n.126-36_126-35del