Canonical Allele Identifier: CA2372519626
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs1568980766

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891991_58891992insCCGTTCG , CM000682.2:g.58891991_58891992insCCGTTCG GRCh38
NC_000020.10:g.57467046_57467047insCCGTTCG , CM000682.1:g.57467046_57467047insCCGTTCG GRCh37
NC_000020.9:g.56900441_56900442insCCGTTCG NCBI36
NG_016194.1:g.57252_57253insCCGTTCG
NG_016194.2:g.57252_57253insCCGTTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3621_2069-3620insCCGTTCG ENSP00000265621.6:n.2069-3621_2069-3620insCCGTTCG
ENST00000419558.7:c.*43-3621_*43-3620insCCGTTCG ENSP00000416234.2:n.*43-3621_*43-3620insCCGTTCG
ENST00000423897.7:c.2069-3621_2069-3620insCCGTTCG ENSP00000412356.2:n.2069-3621_2069-3620insCCGTTCG
ENST00000453292.7:c.781-3621_781-3620insCCGTTCG ENSP00000392000.2:n.781-3621_781-3620insCCGTTCG
ENST00000462499.6:c.-38-3621_-38-3620insCCGTTCG ENSP00000499758.2:n.-38-3621_-38-3620insCCGTTCG
ENST00000464624.7:c.2160-3621_2160-3620insCCGTTCG ENSP00000499607.2:n.2160-3621_2160-3620insCCGTTCG
ENST00000464788.6:c.-39+2778_-39+2779insCCGTTCG ENSP00000499239.2:n.-39+2778_-39+2779insCCGTTCG
ENST00000467227.6:c.-38-3621_-38-3620insCCGTTCG ENSP00000499681.2:n.-38-3621_-38-3620insCCGTTCG
ENST00000467321.6:c.-39+2945_-39+2946insCCGTTCG ENSP00000499523.2:n.-39+2945_-39+2946insCCGTTCG
ENST00000468895.6:c.139+126_139+127insCCGTTCG ENSP00000499551.2:n.139+126_139+127insCCGTTCG
ENST00000469431.6:c.-39+2585_-39+2586insCCGTTCG ENSP00000499654.2:n.-39+2585_-39+2586insCCGTTCG
ENST00000470512.6:c.-39+2638_-39+2639insCCGTTCG ENSP00000499552.2:n.-39+2638_-39+2639insCCGTTCG
ENST00000472183.6:c.-38-3621_-38-3620insCCGTTCG ENSP00000499673.2:n.-38-3621_-38-3620insCCGTTCG
ENST00000478585.6:c.-39+2638_-39+2639insCCGTTCG ENSP00000499762.2:n.-39+2638_-39+2639insCCGTTCG
ENST00000480232.6:c.-39+2442_-39+2443insCCGTTCG ENSP00000499545.2:n.-39+2442_-39+2443insCCGTTCG
ENST00000481039.6:c.-39+3083_-39+3084insCCGTTCG ENSP00000499767.2:n.-39+3083_-39+3084insCCGTTCG
ENST00000482112.6:c.-38-3621_-38-3620insCCGTTCG ENSP00000499794.2:n.-38-3621_-38-3620insCCGTTCG
ENST00000485673.6:c.-39+2442_-39+2443insCCGTTCG ENSP00000499334.2:n.-39+2442_-39+2443insCCGTTCG
ENST00000488546.6:c.-39+3173_-39+3174insCCGTTCG ENSP00000499332.2:n.-39+3173_-39+3174insCCGTTCG
ENST00000488652.6:c.-257_-256insCCGTTCG ENSP00000499435.2:n.-257_-256insCCGTTCG
ENST00000604005.6:c.-39+2659_-39+2660insCCGTTCG ENSP00000474219.2:n.-39+2659_-39+2660insCCGTTCG
ENST00000663479.2:c.-38-3621_-38-3620insCCGTTCG ENSP00000499353.2:n.-38-3621_-38-3620insCCGTTCG
ENST00000667293.2:c.-39+3087_-39+3088insCCGTTCG ENSP00000499293.2:n.-39+3087_-39+3088insCCGTTCG
ENST00000676826.2:c.2069-3621_2069-3620insCCGTTCG ENSP00000504675.2:n.2069-3621_2069-3620insCCGTTCG
ENST00000682803.1:c.-366+126_-366+127insCCGTTCG ENSP00000507069.1:n.-366+126_-366+127insCCGTTCG
ENST00000683015.1:c.909+1202_909+1203insCCGTTCG ENSP00000506815.1:n.909+1202_909+1203insCCGTTCG
ENST00000306090.12:c.44-3621_44-3620insCCGTTCG ENSP00000304472.12:n.44-3621_44-3620insCCGTTCG
ENST00000338783.7:c.139+126_139+127insCCGTTCG ENSP00000345971.7:n.139+126_139+127insCCGTTCG
ENST00000349036.8:c.2069-3621_2069-3620insCCGTTCG ENSP00000265621.5:n.2069-3621_2069-3620insCCGTTCG
ENST00000354359.12:c.139+126_139+127insCCGTTCG ENSP00000346328.7:n.139+126_139+127insCCGTTCG
ENST00000371085.8:c.139+126_139+127insCCGTTCG MANE Select ENSP00000360126.3:n.139+126_139+127insCCGTTCG
ENST00000371100.9:c.2069-3621_2069-3620insCCGTTCG MANE Plus Clinical ENSP00000360141.3:n.2069-3621_2069-3620insCCGTTCG
ENST00000419558.6:c.*43-3621_*43-3620insCCGTTCG ENSP00000416234.2:n.*43-3621_*43-3620insCCGTTCG
ENST00000423897.6:c.2069-3621_2069-3620insCCGTTCG ENSP00000412356.2:n.2069-3621_2069-3620insCCGTTCG
ENST00000453292.6:c.*43-3621_*43-3620insCCGTTCG ENSP00000392000.2:n.*43-3621_*43-3620insCCGTTCG
ENST00000461152.6:c.909+1202_909+1203insCCGTTCG ENSP00000499274.1:n.909+1202_909+1203insCCGTTCG
ENST00000481768.6:c.2227-3621_2227-3620insCCGTTCG ENSP00000499644.2:n.2227-3621_2227-3620insCCGTTCG
ENST00000490374.6:n.223-3621_223-3620insCCGTTCG
ENST00000657090.1:c.-38-3621_-38-3620insCCGTTCG ENSP00000499380.1:n.-38-3621_-38-3620insCCGTTCG
ENST00000663479.1:c.-38-3621_-38-3620insCCGTTCG ENSP00000499353.1:n.-38-3621_-38-3620insCCGTTCG
ENST00000667293.1:c.11-3621_11-3620insCCGTTCG ENSP00000499293.1:n.11-3621_11-3620insCCGTTCG
ENST00000676826.1:c.2069-3621_2069-3620insCCGTTCG ENSP00000504675.1:n.2069-3621_2069-3620insCCGTTCG
ENST00000265620.11:c.139+126_139+127insCCGTTCG ENSP00000265620.7:n.139+126_139+127insCCGTTCG
ENST00000306090.11:c.93+172_93+173insCCGTTCG ENSP00000304472.11:n.93+172_93+173insCCGTTCG
ENST00000313949.11:c.*43-3621_*43-3620insCCGTTCG ENSP00000323571.7:n.*43-3621_*43-3620insCCGTTCG
ENST00000338783.6:c.106+126_106+127insCCGTTCG ENSP00000345971.6:n.106+126_106+127insCCGTTCG
ENST00000349036.7:c.188-3621_188-3620insCCGTTCG ENSP00000265621.4:n.188-3621_188-3620insCCGTTCG
ENST00000354359.11:c.139+126_139+127insCCGTTCG ENSP00000346328.7:n.139+126_139+127insCCGTTCG
ENST00000371075.7:c.*43-3621_*43-3620insCCGTTCG MANE Plus Clinical ENSP00000360115.3:n.*43-3621_*43-3620insCCGTTCG
ENST00000371081.5:c.139+126_139+127insCCGTTCG ENSP00000360122.1:n.139+126_139+127insCCGTTCG
ENST00000371085.7:c.139+126_139+127insCCGTTCG ENSP00000360126.3:n.139+126_139+127insCCGTTCG
ENST00000371095.7:c.139+126_139+127insCCGTTCG ENSP00000360136.3:n.139+126_139+127insCCGTTCG
ENST00000371098.6:c.*43-3621_*43-3620insCCGTTCG ENSP00000360139.2:n.*43-3621_*43-3620insCCGTTCG
ENST00000371100.8:c.2069-3621_2069-3620insCCGTTCG ENSP00000360141.3:n.2069-3621_2069-3620insCCGTTCG
ENST00000371102.8:c.2069-3621_2069-3620insCCGTTCG ENSP00000360143.4:n.2069-3621_2069-3620insCCGTTCG
ENST00000419558.5:c.384-3621_384-3620insCCGTTCG
ENST00000423897.5:c.157-3621_157-3620insCCGTTCG
ENST00000450130.5:c.228-3621_228-3620insCCGTTCG
ENST00000453292.5:c.544-3621_544-3620insCCGTTCG ENSP00000392000.1:n.544-3621_544-3620insCCGTTCG
ENST00000461152.5:n.147+1202_147+1203insCCGTTCG
ENST00000462499.5:n.259-3621_259-3620insCCGTTCG
ENST00000464624.6:n.2355+126_2355+127insCCGTTCG
ENST00000464788.5:n.67+2778_67+2779insCCGTTCG
ENST00000464960.5:n.406+3173_406+3174insCCGTTCG
ENST00000467227.5:n.123-3621_123-3620insCCGTTCG
ENST00000467321.5:n.154+2945_154+2946insCCGTTCG
ENST00000468895.5:n.50+3083_50+3084insCCGTTCG
ENST00000469431.5:n.256+2585_256+2586insCCGTTCG
ENST00000470512.5:n.210+2638_210+2639insCCGTTCG
ENST00000472183.5:n.392-3621_392-3620insCCGTTCG
ENST00000477931.5:n.254+2638_254+2639insCCGTTCG
ENST00000478585.5:n.194+2638_194+2639insCCGTTCG
ENST00000480232.5:n.155+2442_155+2443insCCGTTCG
ENST00000480975.5:n.183+2638_183+2639insCCGTTCG
ENST00000481039.5:n.56+3087_56+3088insCCGTTCG
ENST00000481768.5:n.1324-3621_1324-3620insCCGTTCG
ENST00000482112.5:n.259-3621_259-3620insCCGTTCG
ENST00000484504.5:n.127+2638_127+2639insCCGTTCG
ENST00000485673.5:n.426+2442_426+2443insCCGTTCG
ENST00000488546.5:n.40+3173_40+3174insCCGTTCG
ENST00000488652.5:n.11_12insCCGTTCG
ENST00000490374.5:n.255-3621_255-3620insCCGTTCG
ENST00000491348.5:n.534-3621_534-3620insCCGTTCG
ENST00000493744.5:n.233-3621_233-3620insCCGTTCG
ENST00000604005.5:c.-39+2659_-39+2660insCCGTTCG ENSP00000474219.1:n.-39+2659_-39+2660insCCGTTCG
NM_000516.4:c.139+126_139+127insCCGTTCG NP_000507.1:n.139+126_139+127insCCGTTCG
NM_000516.5:c.139+126_139+127insCCGTTCG NP_000507.1:n.139+126_139+127insCCGTTCG
NM_001077488.2:c.139+126_139+127insCCGTTCG NP_001070956.1:n.139+126_139+127insCCGTTCG
NM_001077488.3:c.139+126_139+127insCCGTTCG NP_001070956.1:n.139+126_139+127insCCGTTCG
NM_001077489.2:c.139+126_139+127insCCGTTCG NP_001070957.1:n.139+126_139+127insCCGTTCG
NM_001077489.3:c.139+126_139+127insCCGTTCG NP_001070957.1:n.139+126_139+127insCCGTTCG
NM_001077490.1:c.*1-3621_*1-3620insCCGTTCG NP_001070958.1:n.*1-3621_*1-3620insCCGTTCG
NM_001077490.2:c.*1-3621_*1-3620insCCGTTCG NP_001070958.1:n.*1-3621_*1-3620insCCGTTCG
NM_001309840.1:c.-39+2638_-39+2639insCCGTTCG NP_001296769.1:n.-39+2638_-39+2639insCCGTTCG
NM_001309842.1:c.139+126_139+127insCCGTTCG NP_001296771.1:n.139+126_139+127insCCGTTCG
NM_001309861.1:c.-38-3621_-38-3620insCCGTTCG NP_001296790.1:n.-38-3621_-38-3620insCCGTTCG
NM_001309883.1:c.*159-3621_*159-3620insCCGTTCG NP_001296812.1:n.*159-3621_*159-3620insCCGTTCG
NM_016592.2:c.*43-3621_*43-3620insCCGTTCG NP_057676.1:n.*43-3621_*43-3620insCCGTTCG
NM_016592.3:c.*43-3621_*43-3620insCCGTTCG NP_057676.1:n.*43-3621_*43-3620insCCGTTCG
NM_080425.2:c.2069-3621_2069-3620insCCGTTCG NP_536350.2:n.2069-3621_2069-3620insCCGTTCG
NM_080425.3:c.2069-3621_2069-3620insCCGTTCG NP_536350.2:n.2069-3621_2069-3620insCCGTTCG
NM_080426.2:c.139+126_139+127insCCGTTCG NP_536351.1:n.139+126_139+127insCCGTTCG
NM_080426.3:c.139+126_139+127insCCGTTCG NP_536351.1:n.139+126_139+127insCCGTTCG
NR_003259.1:c.-4294967067+2638_-4294967067+2639insCCGTTCG
NR_132273.1:n.406+3173_406+3174insCCGTTCG
XM_017027812.2:c.2069-3621_2069-3620insCCGTTCG XP_016883301.1:n.2069-3621_2069-3620insCCGTTCG
XM_017027813.2:c.2069-3621_2069-3620insCCGTTCG XP_016883302.1:n.2069-3621_2069-3620insCCGTTCG
XM_017027814.2:c.2069-3621_2069-3620insCCGTTCG XP_016883303.1:n.2069-3621_2069-3620insCCGTTCG
XM_017027815.1:c.44-3621_44-3620insCCGTTCG XP_016883304.1:n.44-3621_44-3620insCCGTTCG
XM_017027816.1:c.-166+126_-166+127insCCGTTCG XP_016883305.1:n.-166+126_-166+127insCCGTTCG
XM_017027817.1:c.-39+2638_-39+2639insCCGTTCG XP_016883306.1:n.-39+2638_-39+2639insCCGTTCG
XM_017027819.1:c.-39+2659_-39+2660insCCGTTCG XP_016883308.1:n.-39+2659_-39+2660insCCGTTCG
XM_017027821.1:c.*43-3621_*43-3620insCCGTTCG XP_016883310.1:n.*43-3621_*43-3620insCCGTTCG
XM_017027822.1:c.*43-3621_*43-3620insCCGTTCG XP_016883311.1:n.*43-3621_*43-3620insCCGTTCG
XM_024451872.1:c.44-3621_44-3620insCCGTTCG XP_024307640.1:n.44-3621_44-3620insCCGTTCG
XM_024451875.1:c.-39+2659_-39+2660insCCGTTCG XP_024307643.1:n.-39+2659_-39+2660insCCGTTCG
XR_002958471.1:n.764+126_764+127insCCGTTCG
NM_000516.6:c.139+126_139+127insCCGTTCG NP_000507.1:n.139+126_139+127insCCGTTCG
NM_001077488.4:c.139+126_139+127insCCGTTCG NP_001070956.1:n.139+126_139+127insCCGTTCG
NM_001077489.4:c.139+126_139+127insCCGTTCG NP_001070957.1:n.139+126_139+127insCCGTTCG
NM_001309840.2:c.-39+2638_-39+2639insCCGTTCG NP_001296769.1:n.-39+2638_-39+2639insCCGTTCG
NM_001309842.2:c.139+126_139+127insCCGTTCG NP_001296771.1:n.139+126_139+127insCCGTTCG
NM_001309861.2:c.-38-3621_-38-3620insCCGTTCG NP_001296790.1:n.-38-3621_-38-3620insCCGTTCG
NM_016592.4:c.*43-3621_*43-3620insCCGTTCG NP_057676.1:n.*43-3621_*43-3620insCCGTTCG
NM_080426.4:c.139+126_139+127insCCGTTCG NP_536351.1:n.139+126_139+127insCCGTTCG
NM_000516.7:c.139+126_139+127insCCGTTCG MANE Select NP_000507.1:n.139+126_139+127insCCGTTCG
NM_001077488.5:c.139+126_139+127insCCGTTCG NP_001070956.1:n.139+126_139+127insCCGTTCG
NM_001077490.3:c.*1-3621_*1-3620insCCGTTCG NP_001070958.1:n.*1-3621_*1-3620insCCGTTCG
NM_016592.5:c.*43-3621_*43-3620insCCGTTCG MANE Plus Clinical NP_057676.1:n.*43-3621_*43-3620insCCGTTCG
NM_080425.4:c.2069-3621_2069-3620insCCGTTCG MANE Plus Clinical NP_536350.2:n.2069-3621_2069-3620insCCGTTCG