Canonical Allele Identifier: CA636225087
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs1249262835

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891830_58891831insC , CM000682.2:g.58891830_58891831insC GRCh38
NC_000020.10:g.57466885_57466886insC , CM000682.1:g.57466885_57466886insC GRCh37
NC_000020.9:g.56900280_56900281insC NCBI36
NG_016194.1:g.57091_57092insC
NG_016194.2:g.57091_57092insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3782_2069-3781insC ENSP00000265621.6:n.2069-3782_2069-3781insC
ENST00000419558.7:c.*43-3782_*43-3781insC ENSP00000416234.2:n.*43-3782_*43-3781insC
ENST00000423897.7:c.2069-3782_2069-3781insC ENSP00000412356.2:n.2069-3782_2069-3781insC
ENST00000453292.7:c.781-3782_781-3781insC ENSP00000392000.2:n.781-3782_781-3781insC
ENST00000462499.6:c.-38-3782_-38-3781insC ENSP00000499758.2:n.-38-3782_-38-3781insC
ENST00000464624.7:c.2160-3782_2160-3781insC ENSP00000499607.2:n.2160-3782_2160-3781insC
ENST00000464788.6:c.-39+2617_-39+2618insC ENSP00000499239.2:n.-39+2617_-39+2618insC
ENST00000467227.6:c.-38-3782_-38-3781insC ENSP00000499681.2:n.-38-3782_-38-3781insC
ENST00000467321.6:c.-39+2784_-39+2785insC ENSP00000499523.2:n.-39+2784_-39+2785insC
ENST00000468895.6:c.104_105insC ENSP00000499551.2:p.Gln35HisfsTer19
ENST00000469431.6:c.-39+2424_-39+2425insC ENSP00000499654.2:n.-39+2424_-39+2425insC
ENST00000470512.6:c.-39+2477_-39+2478insC ENSP00000499552.2:n.-39+2477_-39+2478insC
ENST00000472183.6:c.-38-3782_-38-3781insC ENSP00000499673.2:n.-38-3782_-38-3781insC
ENST00000478585.6:c.-39+2477_-39+2478insC ENSP00000499762.2:n.-39+2477_-39+2478insC
ENST00000480232.6:c.-39+2281_-39+2282insC ENSP00000499545.2:n.-39+2281_-39+2282insC
ENST00000481039.6:c.-39+2922_-39+2923insC ENSP00000499767.2:n.-39+2922_-39+2923insC
ENST00000482112.6:c.-38-3782_-38-3781insC ENSP00000499794.2:n.-38-3782_-38-3781insC
ENST00000485673.6:c.-39+2281_-39+2282insC ENSP00000499334.2:n.-39+2281_-39+2282insC
ENST00000488546.6:c.-39+3012_-39+3013insC ENSP00000499332.2:n.-39+3012_-39+3013insC
ENST00000604005.6:c.-39+2498_-39+2499insC ENSP00000474219.2:n.-39+2498_-39+2499insC
ENST00000663479.2:c.-38-3782_-38-3781insC ENSP00000499353.2:n.-38-3782_-38-3781insC
ENST00000667293.2:c.-39+2926_-39+2927insC ENSP00000499293.2:n.-39+2926_-39+2927insC
ENST00000676826.2:c.2069-3782_2069-3781insC ENSP00000504675.2:n.2069-3782_2069-3781insC
ENST00000682803.1:c.-401_-400insC ENSP00000507069.1:n.-401_-400insC
ENST00000683015.1:c.909+1041_909+1042insC ENSP00000506815.1:n.909+1041_909+1042insC
ENST00000306090.12:c.44-3782_44-3781insC ENSP00000304472.12:n.44-3782_44-3781insC
ENST00000338783.7:c.104_105insC ENSP00000345971.7:p.Gln35HisfsTer19
ENST00000349036.8:c.2069-3782_2069-3781insC ENSP00000265621.5:n.2069-3782_2069-3781insC
ENST00000354359.12:c.104_105insC ENSP00000346328.7:p.Gln35HisfsTer19
ENST00000371085.8:c.104_105insC MANE Select ENSP00000360126.3:p.Gln35HisfsTer19
ENST00000371100.9:c.2069-3782_2069-3781insC MANE Plus Clinical ENSP00000360141.3:n.2069-3782_2069-3781insC
ENST00000419558.6:c.*43-3782_*43-3781insC ENSP00000416234.2:n.*43-3782_*43-3781insC
ENST00000423897.6:c.2069-3782_2069-3781insC ENSP00000412356.2:n.2069-3782_2069-3781insC
ENST00000453292.6:c.*43-3782_*43-3781insC ENSP00000392000.2:n.*43-3782_*43-3781insC
ENST00000461152.6:c.909+1041_909+1042insC ENSP00000499274.1:n.909+1041_909+1042insC
ENST00000481768.6:c.2227-3782_2227-3781insC ENSP00000499644.2:n.2227-3782_2227-3781insC
ENST00000490374.6:n.223-3782_223-3781insC
ENST00000657090.1:c.-38-3782_-38-3781insC ENSP00000499380.1:n.-38-3782_-38-3781insC
ENST00000663479.1:c.-38-3782_-38-3781insC ENSP00000499353.1:n.-38-3782_-38-3781insC
ENST00000667293.1:c.11-3782_11-3781insC ENSP00000499293.1:n.11-3782_11-3781insC
ENST00000676826.1:c.2069-3782_2069-3781insC ENSP00000504675.1:n.2069-3782_2069-3781insC
ENST00000265620.11:c.104_105insC ENSP00000265620.7:p.Gln35HisfsTer19
ENST00000306090.11:c.93+11_93+12insC ENSP00000304472.11:n.93+11_93+12insC
ENST00000313949.11:c.*43-3782_*43-3781insC ENSP00000323571.7:n.*43-3782_*43-3781insC
ENST00000338783.6:c.71_72insC ENSP00000345971.6:p.Gln24HisfsTer19
ENST00000349036.7:c.188-3782_188-3781insC ENSP00000265621.4:n.188-3782_188-3781insC
ENST00000354359.11:c.104_105insC ENSP00000346328.7:p.Gln35HisfsTer19
ENST00000371075.7:c.*43-3782_*43-3781insC MANE Plus Clinical ENSP00000360115.3:n.*43-3782_*43-3781insC
ENST00000371081.5:c.104_105insC ENSP00000360122.1:p.Gln35HisfsTer19
ENST00000371085.7:c.104_105insC ENSP00000360126.3:p.Gln35HisfsTer19
ENST00000371095.7:c.104_105insC ENSP00000360136.3:p.Gln35HisfsTer19
ENST00000371098.6:c.*43-3782_*43-3781insC ENSP00000360139.2:n.*43-3782_*43-3781insC
ENST00000371100.8:c.2069-3782_2069-3781insC ENSP00000360141.3:n.2069-3782_2069-3781insC
ENST00000371102.8:c.2069-3782_2069-3781insC ENSP00000360143.4:n.2069-3782_2069-3781insC
ENST00000419558.5:c.384-3782_384-3781insC
ENST00000423897.5:c.157-3782_157-3781insC
ENST00000450130.5:c.228-3782_228-3781insC
ENST00000453292.5:c.544-3782_544-3781insC ENSP00000392000.1:n.544-3782_544-3781insC
ENST00000461152.5:n.147+1041_147+1042insC
ENST00000462499.5:n.259-3782_259-3781insC
ENST00000464624.6:n.2320_2321insC
ENST00000464788.5:n.67+2617_67+2618insC
ENST00000464960.5:n.406+3012_406+3013insC
ENST00000467227.5:n.123-3782_123-3781insC
ENST00000467321.5:n.154+2784_154+2785insC
ENST00000468895.5:n.50+2922_50+2923insC
ENST00000469431.5:n.256+2424_256+2425insC
ENST00000470512.5:n.210+2477_210+2478insC
ENST00000472183.5:n.392-3782_392-3781insC
ENST00000477931.5:n.254+2477_254+2478insC
ENST00000478585.5:n.194+2477_194+2478insC
ENST00000480232.5:n.155+2281_155+2282insC
ENST00000480975.5:n.183+2477_183+2478insC
ENST00000481039.5:n.56+2926_56+2927insC
ENST00000481768.5:n.1324-3782_1324-3781insC
ENST00000482112.5:n.259-3782_259-3781insC
ENST00000484504.5:n.127+2477_127+2478insC
ENST00000485673.5:n.426+2281_426+2282insC
ENST00000488546.5:n.40+3012_40+3013insC
ENST00000490374.5:n.255-3782_255-3781insC
ENST00000491348.5:n.534-3782_534-3781insC
ENST00000493744.5:n.233-3782_233-3781insC
ENST00000604005.5:c.-39+2498_-39+2499insC ENSP00000474219.1:n.-39+2498_-39+2499insC
NM_000516.4:c.104_105insC NP_000507.1:p.Gln35HisfsTer19
NM_000516.5:c.104_105insC NP_000507.1:p.Gln35HisfsTer19
NM_001077488.2:c.104_105insC NP_001070956.1:p.Gln35HisfsTer19
NM_001077488.3:c.104_105insC NP_001070956.1:p.Gln35HisfsTer19
NM_001077489.2:c.104_105insC NP_001070957.1:p.Gln35HisfsTer19
NM_001077489.3:c.104_105insC NP_001070957.1:p.Gln35HisfsTer19
NM_001077490.1:c.*1-3782_*1-3781insC NP_001070958.1:n.*1-3782_*1-3781insC
NM_001077490.2:c.*1-3782_*1-3781insC NP_001070958.1:n.*1-3782_*1-3781insC
NM_001309840.1:c.-39+2477_-39+2478insC NP_001296769.1:n.-39+2477_-39+2478insC
NM_001309842.1:c.104_105insC NP_001296771.1:p.Gln35HisfsTer19
NM_001309861.1:c.-38-3782_-38-3781insC NP_001296790.1:n.-38-3782_-38-3781insC
NM_001309883.1:c.*159-3782_*159-3781insC NP_001296812.1:n.*159-3782_*159-3781insC
NM_016592.2:c.*43-3782_*43-3781insC NP_057676.1:n.*43-3782_*43-3781insC
NM_016592.3:c.*43-3782_*43-3781insC NP_057676.1:n.*43-3782_*43-3781insC
NM_080425.2:c.2069-3782_2069-3781insC NP_536350.2:n.2069-3782_2069-3781insC
NM_080425.3:c.2069-3782_2069-3781insC NP_536350.2:n.2069-3782_2069-3781insC
NM_080426.2:c.104_105insC NP_536351.1:p.Gln35HisfsTer19
NM_080426.3:c.104_105insC NP_536351.1:p.Gln35HisfsTer19
NR_003259.1:c.-4294967067+2477_-4294967067+2478insC
NR_132273.1:n.406+3012_406+3013insC
XM_017027812.2:c.2069-3782_2069-3781insC XP_016883301.1:n.2069-3782_2069-3781insC
XM_017027813.2:c.2069-3782_2069-3781insC XP_016883302.1:n.2069-3782_2069-3781insC
XM_017027814.2:c.2069-3782_2069-3781insC XP_016883303.1:n.2069-3782_2069-3781insC
XM_017027815.1:c.44-3782_44-3781insC XP_016883304.1:n.44-3782_44-3781insC
XM_017027816.1:c.-201_-200insC XP_016883305.1:n.-201_-200insC
XM_017027817.1:c.-39+2477_-39+2478insC XP_016883306.1:n.-39+2477_-39+2478insC
XM_017027819.1:c.-39+2498_-39+2499insC XP_016883308.1:n.-39+2498_-39+2499insC
XM_017027821.1:c.*43-3782_*43-3781insC XP_016883310.1:n.*43-3782_*43-3781insC
XM_017027822.1:c.*43-3782_*43-3781insC XP_016883311.1:n.*43-3782_*43-3781insC
XM_024451872.1:c.44-3782_44-3781insC XP_024307640.1:n.44-3782_44-3781insC
XM_024451875.1:c.-39+2498_-39+2499insC XP_024307643.1:n.-39+2498_-39+2499insC
XR_002958471.1:n.729_730insC
NM_000516.6:c.104_105insC NP_000507.1:p.Gln35HisfsTer19
NM_001077488.4:c.104_105insC NP_001070956.1:p.Gln35HisfsTer19
NM_001077489.4:c.104_105insC NP_001070957.1:p.Gln35HisfsTer19
NM_001309840.2:c.-39+2477_-39+2478insC NP_001296769.1:n.-39+2477_-39+2478insC
NM_001309842.2:c.104_105insC NP_001296771.1:p.Gln35HisfsTer19
NM_001309861.2:c.-38-3782_-38-3781insC NP_001296790.1:n.-38-3782_-38-3781insC
NM_016592.4:c.*43-3782_*43-3781insC NP_057676.1:n.*43-3782_*43-3781insC
NM_080426.4:c.104_105insC NP_536351.1:p.Gln35HisfsTer19
NM_000516.7:c.104_105insC MANE Select NP_000507.1:p.Gln35HisfsTer19
NM_001077488.5:c.104_105insC NP_001070956.1:p.Gln35HisfsTer19
NM_001077490.3:c.*1-3782_*1-3781insC NP_001070958.1:n.*1-3782_*1-3781insC
NM_016592.5:c.*43-3782_*43-3781insC MANE Plus Clinical NP_057676.1:n.*43-3782_*43-3781insC
NM_080425.4:c.2069-3782_2069-3781insC MANE Plus Clinical NP_536350.2:n.2069-3782_2069-3781insC