Canonical Allele Identifier: CA2816474695
Gene: ADA HGNC NCBI
PKIG HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623787_44623789del , CM000682.2:g.44623787_44623789del GRCh38
NC_000020.10:g.43252428_43252430del , CM000682.1:g.43252428_43252430del GRCh37
NC_000020.9:g.42685842_42685844del NCBI36
NG_007385.1:g.32948_32950del , LRG_16:g.32948_32950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.697+414_697+416del (ADA)
ENST00000536076.2:c.453+414_453+416del (ADA) ENSP00000512234.1:n.453+414_453+416del
ENST00000536532.6:c.606+414_606+416del (ADA) ENSP00000440946.1:n.606+414_606+416del
ENST00000537820.2:c.606+414_606+416del (ADA) ENSP00000441818.1:n.606+414_606+416del
ENST00000539235.6:c.219-710_219-708del (ADA) ENSP00000446464.1:n.219-710_219-708del
ENST00000695889.1:c.219-858_219-856del (ADA) ENSP00000512240.1:n.219-858_219-856del
ENST00000695890.1:n.2409+414_2409+416del (ADA)
ENST00000695891.1:c.219-858_219-856del (ADA) ENSP00000512241.1:n.219-858_219-856del
ENST00000695927.1:c.684+414_684+416del (ADA) ENSP00000512270.1:n.684+414_684+416del
ENST00000695949.1:c.603+414_603+416del (ADA) ENSP00000512281.1:n.603+414_603+416del
ENST00000695957.1:c.*97+414_*97+416del (ADA) ENSP00000512286.1:n.*97+414_*97+416del
ENST00000695991.1:c.217-858_217-856del (ADA) ENSP00000512314.1:n.217-858_217-856del
ENST00000695992.1:c.606+414_606+416del (ADA) ENSP00000512315.1:n.606+414_606+416del
ENST00000695993.1:c.606+414_606+416del (ADA) ENSP00000512316.1:n.606+414_606+416del
ENST00000695994.1:c.606+414_606+416del (ADA) ENSP00000512317.1:n.606+414_606+416del
ENST00000695995.1:c.217-710_217-708del (ADA) ENSP00000512318.1:n.217-710_217-708del
ENST00000695996.1:n.677+414_677+416del (ADA)
ENST00000695997.1:n.975_977del (ADA)
ENST00000696003.1:n.698+414_698+416del (ADA)
ENST00000696004.1:n.698+414_698+416del (ADA)
ENST00000696005.1:c.128+414_128+416del (ADA)
ENST00000696006.1:c.606+414_606+416del (ADA) ENSP00000512325.1:n.606+414_606+416del
ENST00000696007.1:c.457+414_457+416del (ADA) ENSP00000512326.1:n.457+414_457+416del
ENST00000696008.1:n.2175_2177del (ADA)
ENST00000696017.1:c.603+414_603+416del (ADA) ENSP00000512333.1:n.603+414_603+416del
ENST00000696034.1:c.606+414_606+416del (ADA) ENSP00000512343.1:n.606+414_606+416del
ENST00000696035.1:n.716+414_716+416del (ADA)
ENST00000696036.1:n.1296+414_1296+416del (ADA)
ENST00000696037.1:n.2283+414_2283+416del (ADA)
ENST00000696038.1:c.*352+414_*352+416del (ADA) ENSP00000512344.1:n.*352+414_*352+416del
ENST00000696039.1:n.894+414_894+416del (ADA)
ENST00000696058.1:c.606+414_606+416del (ADA) ENSP00000512361.1:n.606+414_606+416del
ENST00000696059.1:c.*551+414_*551+416del (ADA) ENSP00000512362.1:n.*551+414_*551+416del
ENST00000696060.1:c.606+414_606+416del (ADA) ENSP00000512363.1:n.606+414_606+416del
ENST00000696061.1:c.603+414_603+416del (ADA) ENSP00000512364.1:n.603+414_603+416del
ENST00000696062.1:c.669+414_669+416del (ADA) ENSP00000512365.1:n.669+414_669+416del
ENST00000696063.1:c.681+414_681+416del (ADA) ENSP00000512366.1:n.681+414_681+416del
ENST00000696064.1:c.453+414_453+416del (ADA) ENSP00000512367.1:n.453+414_453+416del
ENST00000696065.1:c.66-858_66-856del (ADA) ENSP00000512368.1:n.66-858_66-856del
ENST00000696073.1:n.132_134del (ADA)
ENST00000696074.1:n.222+414_222+416del (ADA)
ENST00000696075.1:c.*576+414_*576+416del (ADA) ENSP00000512374.1:n.*576+414_*576+416del
ENST00000696076.1:c.606+414_606+416del (ADA) ENSP00000512375.1:n.606+414_606+416del
ENST00000696077.1:c.603+414_603+416del (ADA) ENSP00000512376.1:n.603+414_603+416del
ENST00000696078.1:c.606+414_606+416del (ADA) ENSP00000512377.1:n.606+414_606+416del
ENST00000696079.1:c.606+414_606+416del (ADA) ENSP00000512378.1:n.606+414_606+416del
ENST00000696080.1:c.606+414_606+416del (ADA) ENSP00000512379.1:n.606+414_606+416del
ENST00000696081.1:n.725+414_725+416del (ADA)
ENST00000696082.1:c.684+414_684+416del (ADA) ENSP00000512380.1:n.684+414_684+416del
ENST00000696083.1:n.1487+414_1487+416del (ADA)
ENST00000696084.1:n.707+414_707+416del (ADA)
ENST00000696104.1:c.363-858_363-856del (ADA) ENSP00000512399.1:n.363-858_363-856del
ENST00000696105.1:c.*147+414_*147+416del (ADA) ENSP00000512400.1:n.*147+414_*147+416del
ENST00000372874.9:c.606+414_606+416del (ADA) MANE Select ENSP00000361965.4:n.606+414_606+416del
ENST00000372874.8:c.606+414_606+416del (ADA) ENSP00000361965.4:n.606+414_606+416del
ENST00000372887.5:c.152-146_152-144del (PKIG) ENSP00000361978.1:n.152-146_152-144del
ENST00000464097.5:n.280+414_280+416del (ADA)
ENST00000492931.5:n.690+414_690+416del (ADA)
ENST00000536532.5:c.606+414_606+416del (ADA) ENSP00000440946.1:n.606+414_606+416del
ENST00000537820.1:c.606+414_606+416del (ADA) ENSP00000441818.1:n.606+414_606+416del
ENST00000539235.5:c.219-710_219-708del (ADA) ENSP00000446464.1:n.219-710_219-708del
NM_000022.2:c.606+414_606+416del , LRG_16t1:c.606+414_606+416del (ADA) NP_000013.2:n.606+414_606+416del
XM_005260236.2:c.606+414_606+416del (ADA) XP_005260293.1:n.606+414_606+416del
XM_011528478.1:c.201+414_201+416del (ADA) XP_011526780.1:n.201+414_201+416del
XM_011528479.1:c.201+414_201+416del (ADA) XP_011526781.1:n.201+414_201+416del
XR_244129.1:n.660+414_660+416del (ADA)
NM_000022.3:c.606+414_606+416del (ADA) NP_000013.2:n.606+414_606+416del
NM_001322050.1:c.201+414_201+416del (ADA) NP_001308979.1:n.201+414_201+416del
NM_001322051.1:c.606+414_606+416del (ADA) NP_001308980.1:n.606+414_606+416del
NR_136160.1:n.757+414_757+416del (ADA)
NM_000022.4:c.606+414_606+416del (ADA) MANE Select NP_000013.2:n.606+414_606+416del
NM_001322050.2:c.201+414_201+416del (ADA) NP_001308979.1:n.201+414_201+416del
NM_001322051.2:c.606+414_606+416del (ADA) NP_001308980.1:n.606+414_606+416del
NR_136160.2:n.698+414_698+416del (ADA)
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