Canonical Allele Identifier: CA2372519616
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891989_58891991delinsGGC , CM000682.2:g.58891989_58891991delinsGGC GRCh38
NC_000020.10:g.57467044_57467046delinsGGC , CM000682.1:g.57467044_57467046delinsGGC GRCh37
NC_000020.9:g.56900439_56900441delinsGGC NCBI36
NG_016194.1:g.57250_57252delinsGGC
NG_016194.2:g.57250_57252delinsGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3623_2069-3621delinsGGC ENSP00000265621.6:n.2069-3623_2069-3621delinsGGC
ENST00000419558.7:c.*43-3623_*43-3621delinsGGC ENSP00000416234.2:n.*43-3623_*43-3621delinsGGC
ENST00000423897.7:c.2069-3623_2069-3621delinsGGC ENSP00000412356.2:n.2069-3623_2069-3621delinsGGC
ENST00000453292.7:c.781-3623_781-3621delinsGGC ENSP00000392000.2:n.781-3623_781-3621delinsGGC
ENST00000462499.6:c.-38-3623_-38-3621delinsGGC ENSP00000499758.2:n.-38-3623_-38-3621delinsGGC
ENST00000464624.7:c.2160-3623_2160-3621delinsGGC ENSP00000499607.2:n.2160-3623_2160-3621delinsGGC
ENST00000464788.6:c.-39+2776_-39+2778delinsGGC ENSP00000499239.2:n.-39+2776_-39+2778delinsGGC
ENST00000467227.6:c.-38-3623_-38-3621delinsGGC ENSP00000499681.2:n.-38-3623_-38-3621delinsGGC
ENST00000467321.6:c.-39+2943_-39+2945delinsGGC ENSP00000499523.2:n.-39+2943_-39+2945delinsGGC
ENST00000468895.6:c.139+124_139+126delinsGGC ENSP00000499551.2:n.139+124_139+126delinsGGC
ENST00000469431.6:c.-39+2583_-39+2585delinsGGC ENSP00000499654.2:n.-39+2583_-39+2585delinsGGC
ENST00000470512.6:c.-39+2636_-39+2638delinsGGC ENSP00000499552.2:n.-39+2636_-39+2638delinsGGC
ENST00000472183.6:c.-38-3623_-38-3621delinsGGC ENSP00000499673.2:n.-38-3623_-38-3621delinsGGC
ENST00000478585.6:c.-39+2636_-39+2638delinsGGC ENSP00000499762.2:n.-39+2636_-39+2638delinsGGC
ENST00000480232.6:c.-39+2440_-39+2442delinsGGC ENSP00000499545.2:n.-39+2440_-39+2442delinsGGC
ENST00000481039.6:c.-39+3081_-39+3083delinsGGC ENSP00000499767.2:n.-39+3081_-39+3083delinsGGC
ENST00000482112.6:c.-38-3623_-38-3621delinsGGC ENSP00000499794.2:n.-38-3623_-38-3621delinsGGC
ENST00000485673.6:c.-39+2440_-39+2442delinsGGC ENSP00000499334.2:n.-39+2440_-39+2442delinsGGC
ENST00000488546.6:c.-39+3171_-39+3173delinsGGC ENSP00000499332.2:n.-39+3171_-39+3173delinsGGC
ENST00000488652.6:c.-259_-257delinsGGC ENSP00000499435.2:n.-259_-257delinsGGC
ENST00000604005.6:c.-39+2657_-39+2659delinsGGC ENSP00000474219.2:n.-39+2657_-39+2659delinsGGC
ENST00000663479.2:c.-38-3623_-38-3621delinsGGC ENSP00000499353.2:n.-38-3623_-38-3621delinsGGC
ENST00000667293.2:c.-39+3085_-39+3087delinsGGC ENSP00000499293.2:n.-39+3085_-39+3087delinsGGC
ENST00000676826.2:c.2069-3623_2069-3621delinsGGC ENSP00000504675.2:n.2069-3623_2069-3621delinsGGC
ENST00000682803.1:c.-366+124_-366+126delinsGGC ENSP00000507069.1:n.-366+124_-366+126delinsGGC
ENST00000683015.1:c.909+1200_909+1202delinsGGC ENSP00000506815.1:n.909+1200_909+1202delinsGGC
ENST00000306090.12:c.44-3623_44-3621delinsGGC ENSP00000304472.12:n.44-3623_44-3621delinsGGC
ENST00000338783.7:c.139+124_139+126delinsGGC ENSP00000345971.7:n.139+124_139+126delinsGGC
ENST00000349036.8:c.2069-3623_2069-3621delinsGGC ENSP00000265621.5:n.2069-3623_2069-3621delinsGGC
ENST00000354359.12:c.139+124_139+126delinsGGC ENSP00000346328.7:n.139+124_139+126delinsGGC
ENST00000371085.8:c.139+124_139+126delinsGGC MANE Select ENSP00000360126.3:n.139+124_139+126delinsGGC
ENST00000371100.9:c.2069-3623_2069-3621delinsGGC MANE Plus Clinical ENSP00000360141.3:n.2069-3623_2069-3621delinsGGC
ENST00000419558.6:c.*43-3623_*43-3621delinsGGC ENSP00000416234.2:n.*43-3623_*43-3621delinsGGC
ENST00000423897.6:c.2069-3623_2069-3621delinsGGC ENSP00000412356.2:n.2069-3623_2069-3621delinsGGC
ENST00000453292.6:c.*43-3623_*43-3621delinsGGC ENSP00000392000.2:n.*43-3623_*43-3621delinsGGC
ENST00000461152.6:c.909+1200_909+1202delinsGGC ENSP00000499274.1:n.909+1200_909+1202delinsGGC
ENST00000481768.6:c.2227-3623_2227-3621delinsGGC ENSP00000499644.2:n.2227-3623_2227-3621delinsGGC
ENST00000490374.6:n.223-3623_223-3621delinsGGC
ENST00000657090.1:c.-38-3623_-38-3621delinsGGC ENSP00000499380.1:n.-38-3623_-38-3621delinsGGC
ENST00000663479.1:c.-38-3623_-38-3621delinsGGC ENSP00000499353.1:n.-38-3623_-38-3621delinsGGC
ENST00000667293.1:c.11-3623_11-3621delinsGGC ENSP00000499293.1:n.11-3623_11-3621delinsGGC
ENST00000676826.1:c.2069-3623_2069-3621delinsGGC ENSP00000504675.1:n.2069-3623_2069-3621delinsGGC
ENST00000265620.11:c.139+124_139+126delinsGGC ENSP00000265620.7:n.139+124_139+126delinsGGC
ENST00000306090.11:c.93+170_93+172delinsGGC ENSP00000304472.11:n.93+170_93+172delinsGGC
ENST00000313949.11:c.*43-3623_*43-3621delinsGGC ENSP00000323571.7:n.*43-3623_*43-3621delinsGGC
ENST00000338783.6:c.106+124_106+126delinsGGC ENSP00000345971.6:n.106+124_106+126delinsGGC
ENST00000349036.7:c.188-3623_188-3621delinsGGC ENSP00000265621.4:n.188-3623_188-3621delinsGGC
ENST00000354359.11:c.139+124_139+126delinsGGC ENSP00000346328.7:n.139+124_139+126delinsGGC
ENST00000371075.7:c.*43-3623_*43-3621delinsGGC MANE Plus Clinical ENSP00000360115.3:n.*43-3623_*43-3621delinsGGC
ENST00000371081.5:c.139+124_139+126delinsGGC ENSP00000360122.1:n.139+124_139+126delinsGGC
ENST00000371085.7:c.139+124_139+126delinsGGC ENSP00000360126.3:n.139+124_139+126delinsGGC
ENST00000371095.7:c.139+124_139+126delinsGGC ENSP00000360136.3:n.139+124_139+126delinsGGC
ENST00000371098.6:c.*43-3623_*43-3621delinsGGC ENSP00000360139.2:n.*43-3623_*43-3621delinsGGC
ENST00000371100.8:c.2069-3623_2069-3621delinsGGC ENSP00000360141.3:n.2069-3623_2069-3621delinsGGC
ENST00000371102.8:c.2069-3623_2069-3621delinsGGC ENSP00000360143.4:n.2069-3623_2069-3621delinsGGC
ENST00000419558.5:c.384-3623_384-3621delinsGGC
ENST00000423897.5:c.157-3623_157-3621delinsGGC
ENST00000450130.5:c.228-3623_228-3621delinsGGC
ENST00000453292.5:c.544-3623_544-3621delinsGGC ENSP00000392000.1:n.544-3623_544-3621delinsGGC
ENST00000461152.5:n.147+1200_147+1202delinsGGC
ENST00000462499.5:n.259-3623_259-3621delinsGGC
ENST00000464624.6:n.2355+124_2355+126delinsGGC
ENST00000464788.5:n.67+2776_67+2778delinsGGC
ENST00000464960.5:n.406+3171_406+3173delinsGGC
ENST00000467227.5:n.123-3623_123-3621delinsGGC
ENST00000467321.5:n.154+2943_154+2945delinsGGC
ENST00000468895.5:n.50+3081_50+3083delinsGGC
ENST00000469431.5:n.256+2583_256+2585delinsGGC
ENST00000470512.5:n.210+2636_210+2638delinsGGC
ENST00000472183.5:n.392-3623_392-3621delinsGGC
ENST00000477931.5:n.254+2636_254+2638delinsGGC
ENST00000478585.5:n.194+2636_194+2638delinsGGC
ENST00000480232.5:n.155+2440_155+2442delinsGGC
ENST00000480975.5:n.183+2636_183+2638delinsGGC
ENST00000481039.5:n.56+3085_56+3087delinsGGC
ENST00000481768.5:n.1324-3623_1324-3621delinsGGC
ENST00000482112.5:n.259-3623_259-3621delinsGGC
ENST00000484504.5:n.127+2636_127+2638delinsGGC
ENST00000485673.5:n.426+2440_426+2442delinsGGC
ENST00000488546.5:n.40+3171_40+3173delinsGGC
ENST00000488652.5:n.9_11delinsGGC
ENST00000490374.5:n.255-3623_255-3621delinsGGC
ENST00000491348.5:n.534-3623_534-3621delinsGGC
ENST00000493744.5:n.233-3623_233-3621delinsGGC
ENST00000604005.5:c.-39+2657_-39+2659delinsGGC ENSP00000474219.1:n.-39+2657_-39+2659delinsGGC
NM_000516.4:c.139+124_139+126delinsGGC NP_000507.1:n.139+124_139+126delinsGGC
NM_000516.5:c.139+124_139+126delinsGGC NP_000507.1:n.139+124_139+126delinsGGC
NM_001077488.2:c.139+124_139+126delinsGGC NP_001070956.1:n.139+124_139+126delinsGGC
NM_001077488.3:c.139+124_139+126delinsGGC NP_001070956.1:n.139+124_139+126delinsGGC
NM_001077489.2:c.139+124_139+126delinsGGC NP_001070957.1:n.139+124_139+126delinsGGC
NM_001077489.3:c.139+124_139+126delinsGGC NP_001070957.1:n.139+124_139+126delinsGGC
NM_001077490.1:c.*1-3623_*1-3621delinsGGC NP_001070958.1:n.*1-3623_*1-3621delinsGGC
NM_001077490.2:c.*1-3623_*1-3621delinsGGC NP_001070958.1:n.*1-3623_*1-3621delinsGGC
NM_001309840.1:c.-39+2636_-39+2638delinsGGC NP_001296769.1:n.-39+2636_-39+2638delinsGGC
NM_001309842.1:c.139+124_139+126delinsGGC NP_001296771.1:n.139+124_139+126delinsGGC
NM_001309861.1:c.-38-3623_-38-3621delinsGGC NP_001296790.1:n.-38-3623_-38-3621delinsGGC
NM_001309883.1:c.*159-3623_*159-3621delinsGGC NP_001296812.1:n.*159-3623_*159-3621delinsGGC
NM_016592.2:c.*43-3623_*43-3621delinsGGC NP_057676.1:n.*43-3623_*43-3621delinsGGC
NM_016592.3:c.*43-3623_*43-3621delinsGGC NP_057676.1:n.*43-3623_*43-3621delinsGGC
NM_080425.2:c.2069-3623_2069-3621delinsGGC NP_536350.2:n.2069-3623_2069-3621delinsGGC
NM_080425.3:c.2069-3623_2069-3621delinsGGC NP_536350.2:n.2069-3623_2069-3621delinsGGC
NM_080426.2:c.139+124_139+126delinsGGC NP_536351.1:n.139+124_139+126delinsGGC
NM_080426.3:c.139+124_139+126delinsGGC NP_536351.1:n.139+124_139+126delinsGGC
NR_003259.1:c.-4294967067+2636_-4294967067+2638delinsGGC
NR_132273.1:n.406+3171_406+3173delinsGGC
XM_017027812.2:c.2069-3623_2069-3621delinsGGC XP_016883301.1:n.2069-3623_2069-3621delinsGGC
XM_017027813.2:c.2069-3623_2069-3621delinsGGC XP_016883302.1:n.2069-3623_2069-3621delinsGGC
XM_017027814.2:c.2069-3623_2069-3621delinsGGC XP_016883303.1:n.2069-3623_2069-3621delinsGGC
XM_017027815.1:c.44-3623_44-3621delinsGGC XP_016883304.1:n.44-3623_44-3621delinsGGC
XM_017027816.1:c.-166+124_-166+126delinsGGC XP_016883305.1:n.-166+124_-166+126delinsGGC
XM_017027817.1:c.-39+2636_-39+2638delinsGGC XP_016883306.1:n.-39+2636_-39+2638delinsGGC
XM_017027819.1:c.-39+2657_-39+2659delinsGGC XP_016883308.1:n.-39+2657_-39+2659delinsGGC
XM_017027821.1:c.*43-3623_*43-3621delinsGGC XP_016883310.1:n.*43-3623_*43-3621delinsGGC
XM_017027822.1:c.*43-3623_*43-3621delinsGGC XP_016883311.1:n.*43-3623_*43-3621delinsGGC
XM_024451872.1:c.44-3623_44-3621delinsGGC XP_024307640.1:n.44-3623_44-3621delinsGGC
XM_024451875.1:c.-39+2657_-39+2659delinsGGC XP_024307643.1:n.-39+2657_-39+2659delinsGGC
XR_002958471.1:n.764+124_764+126delinsGGC
NM_000516.6:c.139+124_139+126delinsGGC NP_000507.1:n.139+124_139+126delinsGGC
NM_001077488.4:c.139+124_139+126delinsGGC NP_001070956.1:n.139+124_139+126delinsGGC
NM_001077489.4:c.139+124_139+126delinsGGC NP_001070957.1:n.139+124_139+126delinsGGC
NM_001309840.2:c.-39+2636_-39+2638delinsGGC NP_001296769.1:n.-39+2636_-39+2638delinsGGC
NM_001309842.2:c.139+124_139+126delinsGGC NP_001296771.1:n.139+124_139+126delinsGGC
NM_001309861.2:c.-38-3623_-38-3621delinsGGC NP_001296790.1:n.-38-3623_-38-3621delinsGGC
NM_016592.4:c.*43-3623_*43-3621delinsGGC NP_057676.1:n.*43-3623_*43-3621delinsGGC
NM_080426.4:c.139+124_139+126delinsGGC NP_536351.1:n.139+124_139+126delinsGGC
NM_000516.7:c.139+124_139+126delinsGGC MANE Select NP_000507.1:n.139+124_139+126delinsGGC
NM_001077488.5:c.139+124_139+126delinsGGC NP_001070956.1:n.139+124_139+126delinsGGC
NM_001077490.3:c.*1-3623_*1-3621delinsGGC NP_001070958.1:n.*1-3623_*1-3621delinsGGC
NM_016592.5:c.*43-3623_*43-3621delinsGGC MANE Plus Clinical NP_057676.1:n.*43-3623_*43-3621delinsGGC
NM_080425.4:c.2069-3623_2069-3621delinsGGC MANE Plus Clinical NP_536350.2:n.2069-3623_2069-3621delinsGGC