Canonical Allele Identifier: CA2365856649
Gene: ADA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44624444_44624445delinsTC , CM000682.2:g.44624444_44624445delinsTC GRCh38
NC_000020.10:g.43253085_43253086delinsTC , CM000682.1:g.43253085_43253086delinsTC GRCh37
NC_000020.9:g.42686499_42686500delinsTC NCBI36
NG_007385.1:g.32291_32292delinsGA , LRG_16:g.32291_32292delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000492931.6:n.570-116_570-115delinsGA
ENST00000536076.2:c.326-116_326-115delinsGA ENSP00000512234.1:n.326-116_326-115delinsGA
ENST00000536532.6:c.479-116_479-115delinsGA ENSP00000440946.1:n.479-116_479-115delinsGA
ENST00000537820.2:c.479-116_479-115delinsGA ENSP00000441818.1:n.479-116_479-115delinsGA
ENST00000539235.6:c.219-1367_219-1366delinsGA ENSP00000446464.1:n.219-1367_219-1366delinsGA
ENST00000695889.1:c.219-1515_219-1514delinsGA ENSP00000512240.1:n.219-1515_219-1514delinsGA
ENST00000695890.1:n.2282-116_2282-115delinsGA
ENST00000695891.1:c.219-1515_219-1514delinsGA ENSP00000512241.1:n.219-1515_219-1514delinsGA
ENST00000695927.1:c.557-116_557-115delinsGA ENSP00000512270.1:n.557-116_557-115delinsGA
ENST00000695949.1:c.476-116_476-115delinsGA ENSP00000512281.1:n.476-116_476-115delinsGA
ENST00000695957.1:c.363-116_363-115delinsGA ENSP00000512286.1:n.363-116_363-115delinsGA
ENST00000695991.1:c.217-1515_217-1514delinsGA ENSP00000512314.1:n.217-1515_217-1514delinsGA
ENST00000695992.1:c.479-116_479-115delinsGA ENSP00000512315.1:n.479-116_479-115delinsGA
ENST00000695993.1:c.479-116_479-115delinsGA ENSP00000512316.1:n.479-116_479-115delinsGA
ENST00000695994.1:c.479-116_479-115delinsGA ENSP00000512317.1:n.479-116_479-115delinsGA
ENST00000695995.1:c.217-1367_217-1366delinsGA ENSP00000512318.1:n.217-1367_217-1366delinsGA
ENST00000695996.1:n.550-116_550-115delinsGA
ENST00000695997.1:n.434-116_434-115delinsGA
ENST00000696003.1:n.571-116_571-115delinsGA
ENST00000696004.1:n.571-116_571-115delinsGA
ENST00000696006.1:c.479-116_479-115delinsGA ENSP00000512325.1:n.479-116_479-115delinsGA
ENST00000696007.1:c.330-116_330-115delinsGA ENSP00000512326.1:n.330-116_330-115delinsGA
ENST00000696008.1:n.1518_1519delinsGA
ENST00000696009.1:n.1713_1714delinsGA
ENST00000696017.1:c.476-116_476-115delinsGA ENSP00000512333.1:n.476-116_476-115delinsGA
ENST00000696034.1:c.479-116_479-115delinsGA ENSP00000512343.1:n.479-116_479-115delinsGA
ENST00000696035.1:n.589-116_589-115delinsGA
ENST00000696036.1:n.1169-116_1169-115delinsGA
ENST00000696037.1:n.2156-116_2156-115delinsGA
ENST00000696038.1:c.*225-116_*225-115delinsGA ENSP00000512344.1:n.*225-116_*225-115delinsGA
ENST00000696039.1:n.767-116_767-115delinsGA
ENST00000696058.1:c.479-116_479-115delinsGA ENSP00000512361.1:n.479-116_479-115delinsGA
ENST00000696059.1:c.*424-116_*424-115delinsGA ENSP00000512362.1:n.*424-116_*424-115delinsGA
ENST00000696060.1:c.479-116_479-115delinsGA ENSP00000512363.1:n.479-116_479-115delinsGA
ENST00000696061.1:c.476-116_476-115delinsGA ENSP00000512364.1:n.476-116_476-115delinsGA
ENST00000696062.1:c.542-116_542-115delinsGA ENSP00000512365.1:n.542-116_542-115delinsGA
ENST00000696063.1:c.554-116_554-115delinsGA ENSP00000512366.1:n.554-116_554-115delinsGA
ENST00000696064.1:c.326-116_326-115delinsGA ENSP00000512367.1:n.326-116_326-115delinsGA
ENST00000696065.1:c.66-1515_66-1514delinsGA ENSP00000512368.1:n.66-1515_66-1514delinsGA
ENST00000696075.1:c.*449-116_*449-115delinsGA ENSP00000512374.1:n.*449-116_*449-115delinsGA
ENST00000696076.1:c.479-116_479-115delinsGA ENSP00000512375.1:n.479-116_479-115delinsGA
ENST00000696077.1:c.476-116_476-115delinsGA ENSP00000512376.1:n.476-116_476-115delinsGA
ENST00000696078.1:c.479-116_479-115delinsGA ENSP00000512377.1:n.479-116_479-115delinsGA
ENST00000696079.1:c.479-116_479-115delinsGA ENSP00000512378.1:n.479-116_479-115delinsGA
ENST00000696080.1:c.479-116_479-115delinsGA ENSP00000512379.1:n.479-116_479-115delinsGA
ENST00000696081.1:n.482_483delinsGA
ENST00000696082.1:c.557-116_557-115delinsGA ENSP00000512380.1:n.557-116_557-115delinsGA
ENST00000696083.1:n.1244_1245delinsGA
ENST00000696084.1:n.580-116_580-115delinsGA
ENST00000696104.1:c.363-1515_363-1514delinsGA ENSP00000512399.1:n.363-1515_363-1514delinsGA
ENST00000696105.1:c.*20-116_*20-115delinsGA ENSP00000512400.1:n.*20-116_*20-115delinsGA
ENST00000372874.9:c.479-116_479-115delinsGA MANE Select ENSP00000361965.4:n.479-116_479-115delinsGA
ENST00000372874.8:c.479-116_479-115delinsGA ENSP00000361965.4:n.479-116_479-115delinsGA
ENST00000464097.5:n.153-116_153-115delinsGA
ENST00000492931.5:n.563-116_563-115delinsGA
ENST00000536532.5:c.479-116_479-115delinsGA ENSP00000440946.1:n.479-116_479-115delinsGA
ENST00000537820.1:c.479-116_479-115delinsGA ENSP00000441818.1:n.479-116_479-115delinsGA
ENST00000539235.5:c.219-1367_219-1366delinsGA ENSP00000446464.1:n.219-1367_219-1366delinsGA
NM_000022.2:c.479-116_479-115delinsGA , LRG_16t1:c.479-116_479-115delinsGA NP_000013.2:n.479-116_479-115delinsGA
XM_005260236.2:c.479-116_479-115delinsGA XP_005260293.1:n.479-116_479-115delinsGA
XM_011528478.1:c.74-116_74-115delinsGA XP_011526780.1:n.74-116_74-115delinsGA
XM_011528479.1:c.74-116_74-115delinsGA XP_011526781.1:n.74-116_74-115delinsGA
XR_244129.1:n.533-116_533-115delinsGA
NM_000022.3:c.479-116_479-115delinsGA NP_000013.2:n.479-116_479-115delinsGA
NM_001322050.1:c.74-116_74-115delinsGA NP_001308979.1:n.74-116_74-115delinsGA
NM_001322051.1:c.479-116_479-115delinsGA NP_001308980.1:n.479-116_479-115delinsGA
NR_136160.1:n.630-116_630-115delinsGA
NM_000022.4:c.479-116_479-115delinsGA MANE Select NP_000013.2:n.479-116_479-115delinsGA
NM_001322050.2:c.74-116_74-115delinsGA NP_001308979.1:n.74-116_74-115delinsGA
NM_001322051.2:c.479-116_479-115delinsGA NP_001308980.1:n.479-116_479-115delinsGA
NR_136160.2:n.571-116_571-115delinsGA
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