Canonical Allele Identifier: CA636174216
Gene: ADA HGNC NCBI
PKIG HGNC NCBI

Linked Data

gnomAD v2: 20-43252639-C-CA
gnomAD v4: 20-44623998-C-CA
MyVariant Identifiers: chr20:g.43252639_43252640insA (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44623998_44623999insA , CM000682.2:g.44623998_44623999insA GRCh38
NC_000020.10:g.43252639_43252640insA , CM000682.1:g.43252639_43252640insA GRCh37
NC_000020.9:g.42686053_42686054insA NCBI36
NG_007385.1:g.32737_32738insT , LRG_16:g.32737_32738insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.697+203_697+204insT (ADA)
ENST00000536076.2:c.453+203_453+204insT (ADA) ENSP00000512234.1:n.453+203_453+204insT
ENST00000536532.6:c.606+203_606+204insT (ADA) ENSP00000440946.1:n.606+203_606+204insT
ENST00000537820.2:c.606+203_606+204insT (ADA) ENSP00000441818.1:n.606+203_606+204insT
ENST00000539235.6:c.219-921_219-920insT (ADA) ENSP00000446464.1:n.219-921_219-920insT
ENST00000695889.1:c.219-1069_219-1068insT (ADA) ENSP00000512240.1:n.219-1069_219-1068insT
ENST00000695890.1:n.2409+203_2409+204insT (ADA)
ENST00000695891.1:c.219-1069_219-1068insT (ADA) ENSP00000512241.1:n.219-1069_219-1068insT
ENST00000695927.1:c.684+203_684+204insT (ADA) ENSP00000512270.1:n.684+203_684+204insT
ENST00000695949.1:c.603+203_603+204insT (ADA) ENSP00000512281.1:n.603+203_603+204insT
ENST00000695957.1:c.*97+203_*97+204insT (ADA) ENSP00000512286.1:n.*97+203_*97+204insT
ENST00000695991.1:c.217-1069_217-1068insT (ADA) ENSP00000512314.1:n.217-1069_217-1068insT
ENST00000695992.1:c.606+203_606+204insT (ADA) ENSP00000512315.1:n.606+203_606+204insT
ENST00000695993.1:c.606+203_606+204insT (ADA) ENSP00000512316.1:n.606+203_606+204insT
ENST00000695994.1:c.606+203_606+204insT (ADA) ENSP00000512317.1:n.606+203_606+204insT
ENST00000695995.1:c.217-921_217-920insT (ADA) ENSP00000512318.1:n.217-921_217-920insT
ENST00000695996.1:n.677+203_677+204insT (ADA)
ENST00000695997.1:n.764_765insT (ADA)
ENST00000696003.1:n.698+203_698+204insT (ADA)
ENST00000696004.1:n.698+203_698+204insT (ADA)
ENST00000696005.1:c.128+203_128+204insT (ADA)
ENST00000696006.1:c.606+203_606+204insT (ADA) ENSP00000512325.1:n.606+203_606+204insT
ENST00000696007.1:c.457+203_457+204insT (ADA) ENSP00000512326.1:n.457+203_457+204insT
ENST00000696008.1:n.1964_1965insT (ADA)
ENST00000696009.1:n.2159_2160insT (ADA)
ENST00000696017.1:c.603+203_603+204insT (ADA) ENSP00000512333.1:n.603+203_603+204insT
ENST00000696034.1:c.606+203_606+204insT (ADA) ENSP00000512343.1:n.606+203_606+204insT
ENST00000696035.1:n.716+203_716+204insT (ADA)
ENST00000696036.1:n.1296+203_1296+204insT (ADA)
ENST00000696037.1:n.2283+203_2283+204insT (ADA)
ENST00000696038.1:c.*352+203_*352+204insT (ADA) ENSP00000512344.1:n.*352+203_*352+204insT
ENST00000696039.1:n.894+203_894+204insT (ADA)
ENST00000696058.1:c.606+203_606+204insT (ADA) ENSP00000512361.1:n.606+203_606+204insT
ENST00000696059.1:c.*551+203_*551+204insT (ADA) ENSP00000512362.1:n.*551+203_*551+204insT
ENST00000696060.1:c.606+203_606+204insT (ADA) ENSP00000512363.1:n.606+203_606+204insT
ENST00000696061.1:c.603+203_603+204insT (ADA) ENSP00000512364.1:n.603+203_603+204insT
ENST00000696062.1:c.669+203_669+204insT (ADA) ENSP00000512365.1:n.669+203_669+204insT
ENST00000696063.1:c.681+203_681+204insT (ADA) ENSP00000512366.1:n.681+203_681+204insT
ENST00000696064.1:c.453+203_453+204insT (ADA) ENSP00000512367.1:n.453+203_453+204insT
ENST00000696065.1:c.66-1069_66-1068insT (ADA) ENSP00000512368.1:n.66-1069_66-1068insT
ENST00000696074.1:n.222+203_222+204insT (ADA)
ENST00000696075.1:c.*576+203_*576+204insT (ADA) ENSP00000512374.1:n.*576+203_*576+204insT
ENST00000696076.1:c.606+203_606+204insT (ADA) ENSP00000512375.1:n.606+203_606+204insT
ENST00000696077.1:c.603+203_603+204insT (ADA) ENSP00000512376.1:n.603+203_603+204insT
ENST00000696078.1:c.606+203_606+204insT (ADA) ENSP00000512377.1:n.606+203_606+204insT
ENST00000696079.1:c.606+203_606+204insT (ADA) ENSP00000512378.1:n.606+203_606+204insT
ENST00000696080.1:c.606+203_606+204insT (ADA) ENSP00000512379.1:n.606+203_606+204insT
ENST00000696081.1:n.725+203_725+204insT (ADA)
ENST00000696082.1:c.684+203_684+204insT (ADA) ENSP00000512380.1:n.684+203_684+204insT
ENST00000696083.1:n.1487+203_1487+204insT (ADA)
ENST00000696084.1:n.707+203_707+204insT (ADA)
ENST00000696104.1:c.363-1069_363-1068insT (ADA) ENSP00000512399.1:n.363-1069_363-1068insT
ENST00000696105.1:c.*147+203_*147+204insT (ADA) ENSP00000512400.1:n.*147+203_*147+204insT
ENST00000372874.9:c.606+203_606+204insT (ADA) MANE Select ENSP00000361965.4:n.606+203_606+204insT
ENST00000372874.8:c.606+203_606+204insT (ADA) ENSP00000361965.4:n.606+203_606+204insT
ENST00000372887.5:c.*22_*23insA (PKIG) ENSP00000361978.1:n.*22_*23insA
ENST00000464097.5:n.280+203_280+204insT (ADA)
ENST00000492931.5:n.690+203_690+204insT (ADA)
ENST00000536532.5:c.606+203_606+204insT (ADA) ENSP00000440946.1:n.606+203_606+204insT
ENST00000537820.1:c.606+203_606+204insT (ADA) ENSP00000441818.1:n.606+203_606+204insT
ENST00000539235.5:c.219-921_219-920insT (ADA) ENSP00000446464.1:n.219-921_219-920insT
NM_000022.2:c.606+203_606+204insT , LRG_16t1:c.606+203_606+204insT (ADA) NP_000013.2:n.606+203_606+204insT
XM_005260236.2:c.606+203_606+204insT (ADA) XP_005260293.1:n.606+203_606+204insT
XM_011528478.1:c.201+203_201+204insT (ADA) XP_011526780.1:n.201+203_201+204insT
XM_011528479.1:c.201+203_201+204insT (ADA) XP_011526781.1:n.201+203_201+204insT
XR_244129.1:n.660+203_660+204insT (ADA)
NM_000022.3:c.606+203_606+204insT (ADA) NP_000013.2:n.606+203_606+204insT
NM_001322050.1:c.201+203_201+204insT (ADA) NP_001308979.1:n.201+203_201+204insT
NM_001322051.1:c.606+203_606+204insT (ADA) NP_001308980.1:n.606+203_606+204insT
NR_136160.1:n.757+203_757+204insT (ADA)
NM_000022.4:c.606+203_606+204insT (ADA) MANE Select NP_000013.2:n.606+203_606+204insT
NM_001322050.2:c.201+203_201+204insT (ADA) NP_001308979.1:n.201+203_201+204insT
NM_001322051.2:c.606+203_606+204insT (ADA) NP_001308980.1:n.606+203_606+204insT
NR_136160.2:n.698+203_698+204insT (ADA)
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