Canonical Allele Identifier: CA315436236

Gene: ADA PKIG

Linked Data

• dbSNP Id: rs1046559295
• MyVariant Identifiers: chr20:g.43251891_43251893del (hg19) ; chr20:g.44623250_44623252del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623251_44623253del , CM000682.2:g.44623251_44623253del	GRCh38
NC_000020.10:g.43251892_43251894del , CM000682.1:g.43251892_43251894del	GRCh37
NC_000020.9:g.42685306_42685308del	NCBI36
NG_007385.1:g.33484_33486del , LRG_16:g.33484_33486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.698-174_698-172del (ADA)
ENST00000536076.2:c.454-174_454-172del (ADA)	ENSP00000512234.1:n.454-174_454-172del
ENST00000536532.6:c.607-174_607-172del (ADA)	ENSP00000440946.1:n.607-174_607-172del
ENST00000537820.2:c.607-322_607-320del (ADA)	ENSP00000441818.1:n.607-322_607-320del
ENST00000539235.6:c.219-174_219-172del (ADA)	ENSP00000446464.1:n.219-174_219-172del
ENST00000695889.1:c.219-322_219-320del (ADA)	ENSP00000512240.1:n.219-322_219-320del
ENST00000695890.1:n.2410-174_2410-172del (ADA)
ENST00000695891.1:c.219-322_219-320del (ADA)	ENSP00000512241.1:n.219-322_219-320del
ENST00000695927.1:c.685-174_685-172del (ADA)	ENSP00000512270.1:n.685-174_685-172del
ENST00000695949.1:c.604-322_604-320del (ADA)	ENSP00000512281.1:n.604-322_604-320del
ENST00000695957.1:c.*98-174_*98-172del (ADA)	ENSP00000512286.1:n.*98-174_*98-172del
ENST00000695991.1:c.217-322_217-320del (ADA)	ENSP00000512314.1:n.217-322_217-320del
ENST00000695992.1:c.607-174_607-172del (ADA)	ENSP00000512315.1:n.607-174_607-172del
ENST00000695993.1:c.607-174_607-172del (ADA)	ENSP00000512316.1:n.607-174_607-172del
ENST00000695994.1:c.607-174_607-172del (ADA)	ENSP00000512317.1:n.607-174_607-172del
ENST00000695995.1:c.217-174_217-172del (ADA)	ENSP00000512318.1:n.217-174_217-172del
ENST00000695996.1:n.678-174_678-172del (ADA)
ENST00000696003.1:n.699-174_699-172del (ADA)
ENST00000696004.1:n.699-174_699-172del (ADA)
ENST00000696005.1:c.129-322_129-320del (ADA)
ENST00000696006.1:c.607-322_607-320del (ADA)	ENSP00000512325.1:n.607-322_607-320del
ENST00000696007.1:c.458-174_458-172del (ADA)	ENSP00000512326.1:n.458-174_458-172del
ENST00000696008.1:n.2711_2713del (ADA)
ENST00000696017.1:c.604-174_604-172del (ADA)	ENSP00000512333.1:n.604-174_604-172del
ENST00000696034.1:c.607-174_607-172del (ADA)	ENSP00000512343.1:n.607-174_607-172del
ENST00000696035.1:n.717-174_717-172del (ADA)
ENST00000696036.1:n.1297-174_1297-172del (ADA)
ENST00000696037.1:n.2284-174_2284-172del (ADA)
ENST00000696038.1:c.*353-174_*353-172del (ADA)	ENSP00000512344.1:n.*353-174_*353-172del
ENST00000696039.1:n.895-174_895-172del (ADA)
ENST00000696058.1:c.607-177_607-175del (ADA)	ENSP00000512361.1:n.607-177_607-175del
ENST00000696059.1:c.*552-174_*552-172del (ADA)	ENSP00000512362.1:n.*552-174_*552-172del
ENST00000696060.1:c.607-105_607-103del (ADA)	ENSP00000512363.1:n.607-105_607-103del
ENST00000696061.1:c.604-174_604-172del (ADA)	ENSP00000512364.1:n.604-174_604-172del
ENST00000696062.1:c.670-174_670-172del (ADA)	ENSP00000512365.1:n.670-174_670-172del
ENST00000696063.1:c.682-174_682-172del (ADA)	ENSP00000512366.1:n.682-174_682-172del
ENST00000696064.1:c.454-174_454-172del (ADA)	ENSP00000512367.1:n.454-174_454-172del
ENST00000696065.1:c.66-322_66-320del (ADA)	ENSP00000512368.1:n.66-322_66-320del
ENST00000696073.1:n.668_670del (ADA)
ENST00000696074.1:n.223-174_223-172del (ADA)
ENST00000696075.1:c.*577-174_*577-172del (ADA)	ENSP00000512374.1:n.*577-174_*577-172del
ENST00000696076.1:c.607-105_607-103del (ADA)	ENSP00000512375.1:n.607-105_607-103del
ENST00000696077.1:c.604-177_604-175del (ADA)	ENSP00000512376.1:n.604-177_604-175del
ENST00000696078.1:c.607-177_607-175del (ADA)	ENSP00000512377.1:n.607-177_607-175del
ENST00000696079.1:c.607-177_607-175del (ADA)	ENSP00000512378.1:n.607-177_607-175del
ENST00000696080.1:c.607-174_607-172del (ADA)	ENSP00000512379.1:n.607-174_607-172del
ENST00000696081.1:n.726-174_726-172del (ADA)
ENST00000696082.1:c.685-177_685-175del (ADA)	ENSP00000512380.1:n.685-177_685-175del
ENST00000696083.1:n.1488-174_1488-172del (ADA)
ENST00000696084.1:n.708-174_708-172del (ADA)
ENST00000696104.1:c.363-322_363-320del (ADA)	ENSP00000512399.1:n.363-322_363-320del
ENST00000696105.1:c.*148-174_*148-172del (ADA)	ENSP00000512400.1:n.*148-174_*148-172del
ENST00000372874.9:c.607-174_607-172del (ADA) MANE Select	ENSP00000361965.4:n.607-174_607-172del
ENST00000372874.8:c.607-174_607-172del (ADA)	ENSP00000361965.4:n.607-174_607-172del
ENST00000372887.5:c.152-682_152-680del (PKIG)	ENSP00000361978.1:n.152-682_152-680del
ENST00000464097.5:n.281-174_281-172del (ADA)
ENST00000492931.5:n.691-174_691-172del (ADA)
ENST00000536532.5:c.607-174_607-172del (ADA)	ENSP00000440946.1:n.607-174_607-172del
ENST00000537820.1:c.607-322_607-320del (ADA)	ENSP00000441818.1:n.607-322_607-320del
ENST00000539235.5:c.219-174_219-172del (ADA)	ENSP00000446464.1:n.219-174_219-172del
NM_000022.2:c.607-174_607-172del , LRG_16t1:c.607-174_607-172del (ADA)	NP_000013.2:n.607-174_607-172del
XM_005260236.2:c.607-322_607-320del (ADA)	XP_005260293.1:n.607-322_607-320del
XM_011528478.1:c.202-174_202-172del (ADA)	XP_011526780.1:n.202-174_202-172del
XM_011528479.1:c.202-174_202-172del (ADA)	XP_011526781.1:n.202-174_202-172del
XR_244129.1:n.661-174_661-172del (ADA)
NM_000022.3:c.607-174_607-172del (ADA)	NP_000013.2:n.607-174_607-172del
NM_001322050.1:c.202-174_202-172del (ADA)	NP_001308979.1:n.202-174_202-172del
NM_001322051.1:c.607-322_607-320del (ADA)	NP_001308980.1:n.607-322_607-320del
NR_136160.1:n.758-174_758-172del (ADA)
NM_000022.4:c.607-174_607-172del (ADA) MANE Select	NP_000013.2:n.607-174_607-172del
NM_001322050.2:c.202-174_202-172del (ADA)	NP_001308979.1:n.202-174_202-172del
NM_001322051.2:c.607-322_607-320del (ADA)	NP_001308980.1:n.607-322_607-320del
NR_136160.2:n.699-174_699-172del (ADA)