Canonical Allele Identifier: CA2365855933
Gene: ADA HGNC NCBI
PKIG HGNC NCBI

Linked Data

dbSNP Id: rs2065347585
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623003_44623004insTTATAA , CM000682.2:g.44623003_44623004insTTATAA GRCh38
NC_000020.10:g.43251644_43251645insTTATAA , CM000682.1:g.43251644_43251645insTTATAA GRCh37
NC_000020.9:g.42685058_42685059insTTATAA NCBI36
NG_007385.1:g.33732_33733insTTATAA , LRG_16:g.33732_33733insTTATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.772_773insTTATAA (ADA)
ENST00000536076.2:c.525+3_525+4insTTATAA (ADA) ENSP00000512234.1:n.525+3_525+4insTTATAA
ENST00000536532.6:c.678+3_678+4insTTATAA (ADA) ENSP00000440946.1:n.678+3_678+4insTTATAA
ENST00000537820.2:c.607-74_607-73insTTATAA (ADA) ENSP00000441818.1:n.607-74_607-73insTTATAA
ENST00000539235.6:c.*62+3_*62+4insTTATAA (ADA) ENSP00000446464.1:n.*62+3_*62+4insTTATAA
ENST00000695889.1:c.219-74_219-73insTTATAA (ADA) ENSP00000512240.1:n.219-74_219-73insTTATAA
ENST00000695890.1:n.2484_2485insTTATAA (ADA)
ENST00000695891.1:c.219-74_219-73insTTATAA (ADA) ENSP00000512241.1:n.219-74_219-73insTTATAA
ENST00000695927.1:c.756+3_756+4insTTATAA (ADA) ENSP00000512270.1:n.756+3_756+4insTTATAA
ENST00000695949.1:c.604-74_604-73insTTATAA (ADA) ENSP00000512281.1:n.604-74_604-73insTTATAA
ENST00000695957.1:c.*169+3_*169+4insTTATAA (ADA) ENSP00000512286.1:n.*169+3_*169+4insTTATAA
ENST00000695991.1:c.217-74_217-73insTTATAA (ADA) ENSP00000512314.1:n.217-74_217-73insTTATAA
ENST00000695992.1:c.678+3_678+4insTTATAA (ADA) ENSP00000512315.1:n.678+3_678+4insTTATAA
ENST00000695993.1:c.678+3_678+4insTTATAA (ADA) ENSP00000512316.1:n.678+3_678+4insTTATAA
ENST00000695994.1:c.651+30_651+31insTTATAA (ADA) ENSP00000512317.1:n.651+30_651+31insTTATAA
ENST00000695995.1:c.288+3_288+4insTTATAA (ADA) ENSP00000512318.1:n.288+3_288+4insTTATAA
ENST00000695996.1:n.752_753insTTATAA (ADA)
ENST00000696003.1:n.773_774insTTATAA (ADA)
ENST00000696004.1:n.773_774insTTATAA (ADA)
ENST00000696005.1:c.129-74_129-73insTTATAA (ADA)
ENST00000696006.1:c.607-74_607-73insTTATAA (ADA) ENSP00000512325.1:n.607-74_607-73insTTATAA
ENST00000696007.1:c.532_533insTTATAA (ADA) ENSP00000512326.1:n.532_533insTTATAA
ENST00000696008.1:n.2959_2960insTTATAA (ADA)
ENST00000696017.1:c.675+3_675+4insTTATAA (ADA) ENSP00000512333.1:n.675+3_675+4insTTATAA
ENST00000696034.1:c.678+3_678+4insTTATAA (ADA) ENSP00000512343.1:n.678+3_678+4insTTATAA
ENST00000696035.1:n.791_792insTTATAA (ADA)
ENST00000696036.1:n.1371_1372insTTATAA (ADA)
ENST00000696037.1:n.2355+3_2355+4insTTATAA (ADA)
ENST00000696038.1:c.*427_*428insTTATAA (ADA) ENSP00000512344.1:n.*427_*428insTTATAA
ENST00000696039.1:n.969_970insTTATAA (ADA)
ENST00000696058.1:c.675+3_675+4insTTATAA (ADA) ENSP00000512361.1:n.675+3_675+4insTTATAA
ENST00000696059.1:c.*623+3_*623+4insTTATAA (ADA) ENSP00000512362.1:n.*623+3_*623+4insTTATAA
ENST00000696060.1:c.747+3_747+4insTTATAA (ADA) ENSP00000512363.1:n.747+3_747+4insTTATAA
ENST00000696061.1:c.675+3_675+4insTTATAA (ADA) ENSP00000512364.1:n.675+3_675+4insTTATAA
ENST00000696062.1:c.741+3_741+4insTTATAA (ADA) ENSP00000512365.1:n.741+3_741+4insTTATAA
ENST00000696063.1:c.753+3_753+4insTTATAA (ADA) ENSP00000512366.1:n.753+3_753+4insTTATAA
ENST00000696064.1:c.525+3_525+4insTTATAA (ADA) ENSP00000512367.1:n.525+3_525+4insTTATAA
ENST00000696065.1:c.66-74_66-73insTTATAA (ADA) ENSP00000512368.1:n.66-74_66-73insTTATAA
ENST00000696073.1:n.916_917insTTATAA (ADA)
ENST00000696074.1:n.294+3_294+4insTTATAA (ADA)
ENST00000696075.1:c.*648+3_*648+4insTTATAA (ADA) ENSP00000512374.1:n.*648+3_*648+4insTTATAA
ENST00000696076.1:c.747+3_747+4insTTATAA (ADA) ENSP00000512375.1:n.747+3_747+4insTTATAA
ENST00000696077.1:c.672+3_672+4insTTATAA (ADA) ENSP00000512376.1:n.672+3_672+4insTTATAA
ENST00000696078.1:c.675+3_675+4insTTATAA (ADA) ENSP00000512377.1:n.675+3_675+4insTTATAA
ENST00000696079.1:c.675+3_675+4insTTATAA (ADA) ENSP00000512378.1:n.675+3_675+4insTTATAA
ENST00000696080.1:c.678+3_678+4insTTATAA (ADA) ENSP00000512379.1:n.678+3_678+4insTTATAA
ENST00000696081.1:n.797+3_797+4insTTATAA (ADA)
ENST00000696082.1:c.753+3_753+4insTTATAA (ADA) ENSP00000512380.1:n.753+3_753+4insTTATAA
ENST00000696083.1:n.1562_1563insTTATAA (ADA)
ENST00000696084.1:n.782_783insTTATAA (ADA)
ENST00000696104.1:c.363-74_363-73insTTATAA (ADA) ENSP00000512399.1:n.363-74_363-73insTTATAA
ENST00000372874.9:c.678+3_678+4insTTATAA (ADA) MANE Select ENSP00000361965.4:n.678+3_678+4insTTATAA
ENST00000372874.8:c.678+3_678+4insTTATAA (ADA) ENSP00000361965.4:n.678+3_678+4insTTATAA
ENST00000372887.5:c.152-930_152-929insTTATAA (PKIG) ENSP00000361978.1:n.152-930_152-929insTTATAA
ENST00000464097.5:n.355_356insTTATAA (ADA)
ENST00000492931.5:n.765_766insTTATAA (ADA)
ENST00000536532.5:c.678+3_678+4insTTATAA (ADA) ENSP00000440946.1:n.678+3_678+4insTTATAA
ENST00000537820.1:c.607-74_607-73insTTATAA (ADA) ENSP00000441818.1:n.607-74_607-73insTTATAA
ENST00000539235.5:c.*62+3_*62+4insTTATAA (ADA) ENSP00000446464.1:n.*62+3_*62+4insTTATAA
NM_000022.2:c.678+3_678+4insTTATAA , LRG_16t1:c.678+3_678+4insTTATAA (ADA) NP_000013.2:n.678+3_678+4insTTATAA
XM_005260236.2:c.607-74_607-73insTTATAA (ADA) XP_005260293.1:n.607-74_607-73insTTATAA
XM_011528478.1:c.273+3_273+4insTTATAA (ADA) XP_011526780.1:n.273+3_273+4insTTATAA
XM_011528479.1:c.273+3_273+4insTTATAA (ADA) XP_011526781.1:n.273+3_273+4insTTATAA
XR_244129.1:n.732+3_732+4insTTATAA (ADA)
NM_000022.3:c.678+3_678+4insTTATAA (ADA) NP_000013.2:n.678+3_678+4insTTATAA
NM_001322050.1:c.273+3_273+4insTTATAA (ADA) NP_001308979.1:n.273+3_273+4insTTATAA
NM_001322051.1:c.607-74_607-73insTTATAA (ADA) NP_001308980.1:n.607-74_607-73insTTATAA
NR_136160.1:n.829+3_829+4insTTATAA (ADA)
NM_000022.4:c.678+3_678+4insTTATAA (ADA) MANE Select NP_000013.2:n.678+3_678+4insTTATAA
NM_001322050.2:c.273+3_273+4insTTATAA (ADA) NP_001308979.1:n.273+3_273+4insTTATAA
NM_001322051.2:c.607-74_607-73insTTATAA (ADA) NP_001308980.1:n.607-74_607-73insTTATAA
NR_136160.2:n.770+3_770+4insTTATAA (ADA)
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Search 100 bp 3'