Canonical Allele Identifier: CA2739277183
Gene: ADA HGNC NCBI
PKIG HGNC NCBI

Linked Data

ClinVar Variation Id: 2803663
ClinVar RCV Id: RCV003604043
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44620998_44620999insC , CM000682.2:g.44620998_44620999insC GRCh38
NC_000020.10:g.43249639_43249640insC , CM000682.1:g.43249639_43249640insC GRCh37
NC_000020.9:g.42683053_42683054insC NCBI36
NG_007385.1:g.35737_35738insG , LRG_16:g.35737_35738insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.1142+19_1142+20insG (ADA)
ENST00000536076.2:c.822+19_822+20insG (ADA) ENSP00000512234.1:n.822+19_822+20insG
ENST00000536532.6:c.*118+19_*118+20insG (ADA) ENSP00000440946.1:n.*118+19_*118+20insG
ENST00000537820.2:c.903+19_903+20insG (ADA) ENSP00000441818.1:n.903+19_903+20insG
ENST00000539235.6:c.*359+19_*359+20insG (ADA) ENSP00000446464.1:n.*359+19_*359+20insG
ENST00000695889.1:c.450+19_450+20insG (ADA) ENSP00000512240.1:n.450+19_450+20insG
ENST00000695890.1:n.4489_4490insG (ADA)
ENST00000695891.1:c.515+19_515+20insG (ADA) ENSP00000512241.1:n.515+19_515+20insG
ENST00000695927.1:c.1053+19_1053+20insG (ADA) ENSP00000512270.1:n.1053+19_1053+20insG
ENST00000695949.1:c.900+19_900+20insG (ADA) ENSP00000512281.1:n.900+19_900+20insG
ENST00000695956.1:c.130+19_130+20insG (ADA)
ENST00000695957.1:c.*466+19_*466+20insG (ADA) ENSP00000512286.1:n.*466+19_*466+20insG
ENST00000695991.1:c.513+19_513+20insG (ADA) ENSP00000512314.1:n.513+19_513+20insG
ENST00000695992.1:c.*118+19_*118+20insG (ADA) ENSP00000512315.1:n.*118+19_*118+20insG
ENST00000695993.1:c.975+19_975+20insG (ADA) ENSP00000512316.1:n.975+19_975+20insG
ENST00000695994.1:c.*118+19_*118+20insG (ADA) ENSP00000512317.1:n.*118+19_*118+20insG
ENST00000695995.1:c.585+19_585+20insG (ADA) ENSP00000512318.1:n.585+19_585+20insG
ENST00000695996.1:n.1057+19_1057+20insG (ADA)
ENST00000696003.1:n.2759+19_2759+20insG (ADA)
ENST00000696004.1:n.1162_1163insG (ADA)
ENST00000696005.1:c.425+19_425+20insG (ADA)
ENST00000696006.1:c.*118+19_*118+20insG (ADA) ENSP00000512325.1:n.*118+19_*118+20insG
ENST00000696007.1:c.902+19_902+20insG (ADA) ENSP00000512326.1:n.902+19_902+20insG
ENST00000696008.1:n.3329+19_3329+20insG (ADA)
ENST00000696017.1:c.972+19_972+20insG (ADA) ENSP00000512333.1:n.972+19_972+20insG
ENST00000696034.1:c.*118+19_*118+20insG (ADA) ENSP00000512343.1:n.*118+19_*118+20insG
ENST00000696035.1:n.1161+19_1161+20insG (ADA)
ENST00000696036.1:n.1676+19_1676+20insG (ADA)
ENST00000696037.1:n.2652+19_2652+20insG (ADA)
ENST00000696038.1:c.*732+19_*732+20insG (ADA) ENSP00000512344.1:n.*732+19_*732+20insG
ENST00000696039.1:n.1339+19_1339+20insG (ADA)
ENST00000696058.1:c.972+19_972+20insG (ADA) ENSP00000512361.1:n.972+19_972+20insG
ENST00000696059.1:c.*920+19_*920+20insG (ADA) ENSP00000512362.1:n.*920+19_*920+20insG
ENST00000696060.1:c.1044+19_1044+20insG (ADA) ENSP00000512363.1:n.1044+19_1044+20insG
ENST00000696061.1:c.972+19_972+20insG (ADA) ENSP00000512364.1:n.972+19_972+20insG
ENST00000696062.1:c.1038+19_1038+20insG (ADA) ENSP00000512365.1:n.1038+19_1038+20insG
ENST00000696063.1:c.1050+19_1050+20insG (ADA) ENSP00000512366.1:n.1050+19_1050+20insG
ENST00000696064.1:c.822+19_822+20insG (ADA) ENSP00000512367.1:n.822+19_822+20insG
ENST00000696065.1:c.297+19_297+20insG (ADA) ENSP00000512368.1:n.297+19_297+20insG
ENST00000696072.1:n.330+19_330+20insG (ADA)
ENST00000696073.1:n.1286+19_1286+20insG (ADA)
ENST00000696074.1:n.526+19_526+20insG (ADA)
ENST00000696075.1:c.*945+19_*945+20insG (ADA) ENSP00000512374.1:n.*945+19_*945+20insG
ENST00000696076.1:c.1044+19_1044+20insG (ADA) ENSP00000512375.1:n.1044+19_1044+20insG
ENST00000696077.1:c.969+19_969+20insG (ADA) ENSP00000512376.1:n.969+19_969+20insG
ENST00000696078.1:c.972+19_972+20insG (ADA) ENSP00000512377.1:n.972+19_972+20insG
ENST00000696079.1:c.972+19_972+20insG (ADA) ENSP00000512378.1:n.972+19_972+20insG
ENST00000696080.1:c.975+19_975+20insG (ADA) ENSP00000512379.1:n.975+19_975+20insG
ENST00000696081.1:n.1094+19_1094+20insG (ADA)
ENST00000696082.1:c.1050+19_1050+20insG (ADA) ENSP00000512380.1:n.1050+19_1050+20insG
ENST00000696083.1:n.1932+19_1932+20insG (ADA)
ENST00000696084.1:n.1152+19_1152+20insG (ADA)
ENST00000696104.1:c.*44+19_*44+20insG (ADA) ENSP00000512399.1:n.*44+19_*44+20insG
ENST00000372874.9:c.975+19_975+20insG (ADA) MANE Select ENSP00000361965.4:n.975+19_975+20insG
ENST00000372874.8:c.975+19_975+20insG (ADA) ENSP00000361965.4:n.975+19_975+20insG
ENST00000372887.5:c.152-2935_152-2934insC (PKIG) ENSP00000361978.1:n.152-2935_152-2934insC
ENST00000464097.5:n.744_745insG (ADA)
ENST00000492931.5:n.1135+19_1135+20insG (ADA)
ENST00000536532.5:c.*118+19_*118+20insG (ADA) ENSP00000440946.1:n.*118+19_*118+20insG
ENST00000537820.1:c.903+19_903+20insG (ADA) ENSP00000441818.1:n.903+19_903+20insG
ENST00000539235.5:c.*359+19_*359+20insG (ADA) ENSP00000446464.1:n.*359+19_*359+20insG
NM_000022.2:c.975+19_975+20insG , LRG_16t1:c.975+19_975+20insG (ADA) NP_000013.2:n.975+19_975+20insG
XM_005260236.2:c.903+19_903+20insG (ADA) XP_005260293.1:n.903+19_903+20insG
XM_011528478.1:c.570+19_570+20insG (ADA) XP_011526780.1:n.570+19_570+20insG
XM_011528479.1:c.570+19_570+20insG (ADA) XP_011526781.1:n.570+19_570+20insG
XR_244129.1:n.964+19_964+20insG (ADA)
NM_000022.3:c.975+19_975+20insG (ADA) NP_000013.2:n.975+19_975+20insG
NM_001322050.1:c.570+19_570+20insG (ADA) NP_001308979.1:n.570+19_570+20insG
NM_001322051.1:c.903+19_903+20insG (ADA) NP_001308980.1:n.903+19_903+20insG
NR_136160.1:n.1061+19_1061+20insG (ADA)
NM_000022.4:c.975+19_975+20insG (ADA) MANE Select NP_000013.2:n.975+19_975+20insG
NM_001322050.2:c.570+19_570+20insG (ADA) NP_001308979.1:n.570+19_570+20insG
NM_001322051.2:c.903+19_903+20insG (ADA) NP_001308980.1:n.903+19_903+20insG
NR_136160.2:n.1002+19_1002+20insG (ADA)
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