Canonical Allele Identifier: CA2372519173
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs2089315513
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891558_58891566dup , CM000682.2:g.58891558_58891566dup GRCh38
NC_000020.10:g.57466613_57466621dup , CM000682.1:g.57466613_57466621dup GRCh37
NC_000020.9:g.56900008_56900016dup NCBI36
NG_016194.1:g.56819_56827dup
NG_016194.2:g.56819_56827dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-4054_2069-4046dup ENSP00000265621.6:n.2069-4054_2069-4046dup
ENST00000419558.7:c.*43-4054_*43-4046dup ENSP00000416234.2:n.*43-4054_*43-4046dup
ENST00000423897.7:c.2069-4054_2069-4046dup ENSP00000412356.2:n.2069-4054_2069-4046dup
ENST00000453292.7:c.781-4054_781-4046dup ENSP00000392000.2:n.781-4054_781-4046dup
ENST00000462499.6:c.-38-4054_-38-4046dup ENSP00000499758.2:n.-38-4054_-38-4046dup
ENST00000464624.7:c.2160-4054_2160-4046dup ENSP00000499607.2:n.2160-4054_2160-4046dup
ENST00000464788.6:c.-39+2345_-39+2353dup ENSP00000499239.2:n.-39+2345_-39+2353dup
ENST00000467227.6:c.-38-4054_-38-4046dup ENSP00000499681.2:n.-38-4054_-38-4046dup
ENST00000467321.6:c.-39+2512_-39+2520dup ENSP00000499523.2:n.-39+2512_-39+2520dup
ENST00000469431.6:c.-39+2152_-39+2160dup ENSP00000499654.2:n.-39+2152_-39+2160dup
ENST00000470512.6:c.-39+2205_-39+2213dup ENSP00000499552.2:n.-39+2205_-39+2213dup
ENST00000472183.6:c.-38-4054_-38-4046dup ENSP00000499673.2:n.-38-4054_-38-4046dup
ENST00000478585.6:c.-39+2205_-39+2213dup ENSP00000499762.2:n.-39+2205_-39+2213dup
ENST00000480232.6:c.-39+2009_-39+2017dup ENSP00000499545.2:n.-39+2009_-39+2017dup
ENST00000481039.6:c.-39+2650_-39+2658dup ENSP00000499767.2:n.-39+2650_-39+2658dup
ENST00000482112.6:c.-38-4054_-38-4046dup ENSP00000499794.2:n.-38-4054_-38-4046dup
ENST00000485673.6:c.-39+2009_-39+2017dup ENSP00000499334.2:n.-39+2009_-39+2017dup
ENST00000488546.6:c.-39+2740_-39+2748dup ENSP00000499332.2:n.-39+2740_-39+2748dup
ENST00000604005.6:c.-39+2226_-39+2234dup ENSP00000474219.2:n.-39+2226_-39+2234dup
ENST00000663479.2:c.-38-4054_-38-4046dup ENSP00000499353.2:n.-38-4054_-38-4046dup
ENST00000667293.2:c.-39+2654_-39+2662dup ENSP00000499293.2:n.-39+2654_-39+2662dup
ENST00000676826.2:c.2069-4054_2069-4046dup ENSP00000504675.2:n.2069-4054_2069-4046dup
ENST00000683015.1:c.909+769_909+777dup ENSP00000506815.1:n.909+769_909+777dup
ENST00000306090.12:c.44-4054_44-4046dup ENSP00000304472.12:n.44-4054_44-4046dup
ENST00000349036.8:c.2069-4054_2069-4046dup ENSP00000265621.5:n.2069-4054_2069-4046dup
ENST00000354359.12:c.-169_-161dup ENSP00000346328.7:n.-169_-161dup
ENST00000371085.8:c.-169_-161dup MANE Select ENSP00000360126.3:n.-169_-161dup
ENST00000371100.9:c.2069-4054_2069-4046dup MANE Plus Clinical ENSP00000360141.3:n.2069-4054_2069-4046dup
ENST00000419558.6:c.*43-4054_*43-4046dup ENSP00000416234.2:n.*43-4054_*43-4046dup
ENST00000423897.6:c.2069-4054_2069-4046dup ENSP00000412356.2:n.2069-4054_2069-4046dup
ENST00000453292.6:c.*43-4054_*43-4046dup ENSP00000392000.2:n.*43-4054_*43-4046dup
ENST00000461152.6:c.909+769_909+777dup ENSP00000499274.1:n.909+769_909+777dup
ENST00000481768.6:c.2227-4054_2227-4046dup ENSP00000499644.2:n.2227-4054_2227-4046dup
ENST00000490374.6:n.223-4054_223-4046dup
ENST00000657090.1:c.-38-4054_-38-4046dup ENSP00000499380.1:n.-38-4054_-38-4046dup
ENST00000663479.1:c.-38-4054_-38-4046dup ENSP00000499353.1:n.-38-4054_-38-4046dup
ENST00000667293.1:c.11-4054_11-4046dup ENSP00000499293.1:n.11-4054_11-4046dup
ENST00000676826.1:c.2069-4054_2069-4046dup ENSP00000504675.1:n.2069-4054_2069-4046dup
ENST00000265620.11:c.-169_-161dup ENSP00000265620.7:n.-169_-161dup
ENST00000313949.11:c.*43-4054_*43-4046dup ENSP00000323571.7:n.*43-4054_*43-4046dup
ENST00000349036.7:c.188-4054_188-4046dup ENSP00000265621.4:n.188-4054_188-4046dup
ENST00000354359.11:c.-169_-161dup ENSP00000346328.7:n.-169_-161dup
ENST00000371075.7:c.*43-4054_*43-4046dup MANE Plus Clinical ENSP00000360115.3:n.*43-4054_*43-4046dup
ENST00000371085.7:c.-169_-161dup ENSP00000360126.3:n.-169_-161dup
ENST00000371095.7:c.-169_-161dup ENSP00000360136.3:n.-169_-161dup
ENST00000371098.6:c.*43-4054_*43-4046dup ENSP00000360139.2:n.*43-4054_*43-4046dup
ENST00000371100.8:c.2069-4054_2069-4046dup ENSP00000360141.3:n.2069-4054_2069-4046dup
ENST00000371102.8:c.2069-4054_2069-4046dup ENSP00000360143.4:n.2069-4054_2069-4046dup
ENST00000419558.5:c.384-4054_384-4046dup
ENST00000423897.5:c.157-4054_157-4046dup
ENST00000450130.5:c.228-4054_228-4046dup
ENST00000453292.5:c.544-4054_544-4046dup ENSP00000392000.1:n.544-4054_544-4046dup
ENST00000461152.5:n.147+769_147+777dup
ENST00000462499.5:n.259-4054_259-4046dup
ENST00000464624.6:n.2072-24_2072-16dup
ENST00000464788.5:n.67+2345_67+2353dup
ENST00000464960.5:n.406+2740_406+2748dup
ENST00000467227.5:n.123-4054_123-4046dup
ENST00000467321.5:n.154+2512_154+2520dup
ENST00000468895.5:n.50+2650_50+2658dup
ENST00000469431.5:n.256+2152_256+2160dup
ENST00000470512.5:n.210+2205_210+2213dup
ENST00000472183.5:n.392-4054_392-4046dup
ENST00000477931.5:n.254+2205_254+2213dup
ENST00000478585.5:n.194+2205_194+2213dup
ENST00000480232.5:n.155+2009_155+2017dup
ENST00000480975.5:n.183+2205_183+2213dup
ENST00000481039.5:n.56+2654_56+2662dup
ENST00000481768.5:n.1324-4054_1324-4046dup
ENST00000482112.5:n.259-4054_259-4046dup
ENST00000484504.5:n.127+2205_127+2213dup
ENST00000485673.5:n.426+2009_426+2017dup
ENST00000488546.5:n.40+2740_40+2748dup
ENST00000490374.5:n.255-4054_255-4046dup
ENST00000491348.5:n.534-4054_534-4046dup
ENST00000493744.5:n.233-4054_233-4046dup
ENST00000604005.5:c.-39+2226_-39+2234dup ENSP00000474219.1:n.-39+2226_-39+2234dup
NM_000516.4:c.-169_-161dup NP_000507.1:n.-169_-161dup
NM_000516.5:c.-169_-161dup NP_000507.1:n.-169_-161dup
NM_001077488.2:c.-169_-161dup NP_001070956.1:n.-169_-161dup
NM_001077488.3:c.-169_-161dup NP_001070956.1:n.-169_-161dup
NM_001077489.2:c.-169_-161dup NP_001070957.1:n.-169_-161dup
NM_001077489.3:c.-169_-161dup NP_001070957.1:n.-169_-161dup
NM_001077490.1:c.*1-4054_*1-4046dup NP_001070958.1:n.*1-4054_*1-4046dup
NM_001077490.2:c.*1-4054_*1-4046dup NP_001070958.1:n.*1-4054_*1-4046dup
NM_001309840.1:c.-39+2205_-39+2213dup NP_001296769.1:n.-39+2205_-39+2213dup
NM_001309842.1:c.-169_-161dup NP_001296771.1:n.-169_-161dup
NM_001309861.1:c.-38-4054_-38-4046dup NP_001296790.1:n.-38-4054_-38-4046dup
NM_001309883.1:c.*159-4054_*159-4046dup NP_001296812.1:n.*159-4054_*159-4046dup
NM_016592.2:c.*43-4054_*43-4046dup NP_057676.1:n.*43-4054_*43-4046dup
NM_016592.3:c.*43-4054_*43-4046dup NP_057676.1:n.*43-4054_*43-4046dup
NM_080425.2:c.2069-4054_2069-4046dup NP_536350.2:n.2069-4054_2069-4046dup
NM_080425.3:c.2069-4054_2069-4046dup NP_536350.2:n.2069-4054_2069-4046dup
NM_080426.2:c.-169_-161dup NP_536351.1:n.-169_-161dup
NM_080426.3:c.-169_-161dup NP_536351.1:n.-169_-161dup
NR_003259.1:c.-4294967067+2205_-4294967067+2213dup
NR_132273.1:n.406+2740_406+2748dup
XM_017027812.2:c.2069-4054_2069-4046dup XP_016883301.1:n.2069-4054_2069-4046dup
XM_017027813.2:c.2069-4054_2069-4046dup XP_016883302.1:n.2069-4054_2069-4046dup
XM_017027814.2:c.2069-4054_2069-4046dup XP_016883303.1:n.2069-4054_2069-4046dup
XM_017027815.1:c.44-4054_44-4046dup XP_016883304.1:n.44-4054_44-4046dup
XM_017027816.1:c.-473_-465dup XP_016883305.1:n.-473_-465dup
XM_017027817.1:c.-39+2205_-39+2213dup XP_016883306.1:n.-39+2205_-39+2213dup
XM_017027819.1:c.-39+2226_-39+2234dup XP_016883308.1:n.-39+2226_-39+2234dup
XM_017027821.1:c.*43-4054_*43-4046dup XP_016883310.1:n.*43-4054_*43-4046dup
XM_017027822.1:c.*43-4054_*43-4046dup XP_016883311.1:n.*43-4054_*43-4046dup
XM_024451872.1:c.44-4054_44-4046dup XP_024307640.1:n.44-4054_44-4046dup
XM_024451875.1:c.-39+2226_-39+2234dup XP_024307643.1:n.-39+2226_-39+2234dup
XR_002958471.1:n.457_465dup
NM_000516.6:c.-169_-161dup NP_000507.1:n.-169_-161dup
NM_001077488.4:c.-169_-161dup NP_001070956.1:n.-169_-161dup
NM_001077489.4:c.-169_-161dup NP_001070957.1:n.-169_-161dup
NM_001309840.2:c.-39+2205_-39+2213dup NP_001296769.1:n.-39+2205_-39+2213dup
NM_001309842.2:c.-169_-161dup NP_001296771.1:n.-169_-161dup
NM_001309861.2:c.-38-4054_-38-4046dup NP_001296790.1:n.-38-4054_-38-4046dup
NM_016592.4:c.*43-4054_*43-4046dup NP_057676.1:n.*43-4054_*43-4046dup
NM_080426.4:c.-169_-161dup NP_536351.1:n.-169_-161dup
NM_000516.7:c.-169_-161dup MANE Select NP_000507.1:n.-169_-161dup
NM_001077488.5:c.-169_-161dup NP_001070956.1:n.-169_-161dup
NM_001077490.3:c.*1-4054_*1-4046dup NP_001070958.1:n.*1-4054_*1-4046dup
NM_016592.5:c.*43-4054_*43-4046dup MANE Plus Clinical NP_057676.1:n.*43-4054_*43-4046dup
NM_080425.4:c.2069-4054_2069-4046dup MANE Plus Clinical NP_536350.2:n.2069-4054_2069-4046dup
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