Canonical Allele Identifier: CA2695229993
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891796_58891800delinsTGCGCTGCAGAAG , CM000682.2:g.58891796_58891800delinsTGCGCTGCAGAAG GRCh38
NC_000020.10:g.57466851_57466855delinsTGCGCTGCAGAAG , CM000682.1:g.57466851_57466855delinsTGCGCTGCAGAAG GRCh37
NC_000020.9:g.56900246_56900250delinsTGCGCTGCAGAAG NCBI36
NG_016194.1:g.57057_57061delinsTGCGCTGCAGAAG
NG_016194.2:g.57057_57061delinsTGCGCTGCAGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG ENSP00000265621.6:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000419558.7:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG ENSP00000416234.2:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
ENST00000423897.7:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG ENSP00000412356.2:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000453292.7:c.781-3816_781-3812delinsTGCGCTGCAGAAG ENSP00000392000.2:n.781-3816_781-3812delinsTGCGCTGCAGAAG
ENST00000462499.6:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG ENSP00000499758.2:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
ENST00000464624.7:c.2160-3816_2160-3812delinsTGCGCTGCAGAAG ENSP00000499607.2:n.2160-3816_2160-3812delinsTGCGCTGCAGAAG
ENST00000464788.6:c.-39+2583_-39+2587delinsTGCGCTGCAGAAG ENSP00000499239.2:n.-39+2583_-39+2587delinsTGCGCTGCAGAAG
ENST00000467227.6:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG ENSP00000499681.2:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
ENST00000467321.6:c.-39+2750_-39+2754delinsTGCGCTGCAGAAG ENSP00000499523.2:n.-39+2750_-39+2754delinsTGCGCTGCAGAAG
ENST00000468895.6:c.70_74delinsTGCGCTGCAGAAG ENSP00000499551.2:p.Lys24CysfsTer?
ENST00000469431.6:c.-39+2390_-39+2394delinsTGCGCTGCAGAAG ENSP00000499654.2:n.-39+2390_-39+2394delinsTGCGCTGCAGAAG
ENST00000470512.6:c.-39+2443_-39+2447delinsTGCGCTGCAGAAG ENSP00000499552.2:n.-39+2443_-39+2447delinsTGCGCTGCAGAAG
ENST00000472183.6:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG ENSP00000499673.2:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
ENST00000478585.6:c.-39+2443_-39+2447delinsTGCGCTGCAGAAG ENSP00000499762.2:n.-39+2443_-39+2447delinsTGCGCTGCAGAAG
ENST00000480232.6:c.-39+2247_-39+2251delinsTGCGCTGCAGAAG ENSP00000499545.2:n.-39+2247_-39+2251delinsTGCGCTGCAGAAG
ENST00000481039.6:c.-39+2888_-39+2892delinsTGCGCTGCAGAAG ENSP00000499767.2:n.-39+2888_-39+2892delinsTGCGCTGCAGAAG
ENST00000482112.6:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG ENSP00000499794.2:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
ENST00000485673.6:c.-39+2247_-39+2251delinsTGCGCTGCAGAAG ENSP00000499334.2:n.-39+2247_-39+2251delinsTGCGCTGCAGAAG
ENST00000488546.6:c.-39+2978_-39+2982delinsTGCGCTGCAGAAG ENSP00000499332.2:n.-39+2978_-39+2982delinsTGCGCTGCAGAAG
ENST00000604005.6:c.-39+2464_-39+2468delinsTGCGCTGCAGAAG ENSP00000474219.2:n.-39+2464_-39+2468delinsTGCGCTGCAGAAG
ENST00000663479.2:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG ENSP00000499353.2:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
ENST00000667293.2:c.-39+2892_-39+2896delinsTGCGCTGCAGAAG ENSP00000499293.2:n.-39+2892_-39+2896delinsTGCGCTGCAGAAG
ENST00000676826.2:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG ENSP00000504675.2:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000682803.1:c.-435_-431delinsTGCGCTGCAGAAG ENSP00000507069.1:n.-435_-431delinsTGCGCTGCAGAAG
ENST00000683015.1:c.909+1007_909+1011delinsTGCGCTGCAGAAG ENSP00000506815.1:n.909+1007_909+1011delinsTGCGCTGCAGAAG
ENST00000306090.12:c.44-3816_44-3812delinsTGCGCTGCAGAAG ENSP00000304472.12:n.44-3816_44-3812delinsTGCGCTGCAGAAG
ENST00000338783.7:c.70_74delinsTGCGCTGCAGAAG ENSP00000345971.7:p.Lys24CysfsTer?
ENST00000349036.8:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG ENSP00000265621.5:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000354359.12:c.70_74delinsTGCGCTGCAGAAG ENSP00000346328.7:p.Lys24CysfsTer?
ENST00000371085.8:c.70_74delinsTGCGCTGCAGAAG MANE Select ENSP00000360126.3:p.Lys24CysfsTer?
ENST00000371100.9:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG MANE Plus Clinical ENSP00000360141.3:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000419558.6:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG ENSP00000416234.2:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
ENST00000423897.6:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG ENSP00000412356.2:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000453292.6:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG ENSP00000392000.2:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
ENST00000461152.6:c.909+1007_909+1011delinsTGCGCTGCAGAAG ENSP00000499274.1:n.909+1007_909+1011delinsTGCGCTGCAGAAG
ENST00000481768.6:c.2227-3816_2227-3812delinsTGCGCTGCAGAAG ENSP00000499644.2:n.2227-3816_2227-3812delinsTGCGCTGCAGAAG
ENST00000490374.6:n.223-3816_223-3812delinsTGCGCTGCAGAAG
ENST00000657090.1:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG ENSP00000499380.1:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
ENST00000663479.1:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG ENSP00000499353.1:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
ENST00000667293.1:c.11-3816_11-3812delinsTGCGCTGCAGAAG ENSP00000499293.1:n.11-3816_11-3812delinsTGCGCTGCAGAAG
ENST00000676826.1:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG ENSP00000504675.1:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000265620.11:c.70_74delinsTGCGCTGCAGAAG ENSP00000265620.7:p.Lys24CysfsTer?
ENST00000306090.11:c.70_74delinsTGCGCTGCAGAAG ENSP00000304472.11:p.Lys24CysfsTer14
ENST00000313949.11:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG ENSP00000323571.7:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
ENST00000338783.6:c.37_41delinsTGCGCTGCAGAAG ENSP00000345971.6:p.Lys13CysfsTer?
ENST00000349036.7:c.188-3816_188-3812delinsTGCGCTGCAGAAG ENSP00000265621.4:n.188-3816_188-3812delinsTGCGCTGCAGAAG
ENST00000354359.11:c.70_74delinsTGCGCTGCAGAAG ENSP00000346328.7:p.Lys24CysfsTer?
ENST00000371075.7:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG MANE Plus Clinical ENSP00000360115.3:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
ENST00000371081.5:c.70_74delinsTGCGCTGCAGAAG ENSP00000360122.1:p.Lys24CysfsTer?
ENST00000371085.7:c.70_74delinsTGCGCTGCAGAAG ENSP00000360126.3:p.Lys24CysfsTer?
ENST00000371095.7:c.70_74delinsTGCGCTGCAGAAG ENSP00000360136.3:p.Lys24CysfsTer?
ENST00000371098.6:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG ENSP00000360139.2:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
ENST00000371100.8:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG ENSP00000360141.3:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000371102.8:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG ENSP00000360143.4:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
ENST00000419558.5:c.384-3816_384-3812delinsTGCGCTGCAGAAG
ENST00000423897.5:c.157-3816_157-3812delinsTGCGCTGCAGAAG
ENST00000450130.5:c.228-3816_228-3812delinsTGCGCTGCAGAAG
ENST00000453292.5:c.544-3816_544-3812delinsTGCGCTGCAGAAG ENSP00000392000.1:n.544-3816_544-3812delinsTGCGCTGCAGAAG
ENST00000461152.5:n.147+1007_147+1011delinsTGCGCTGCAGAAG
ENST00000462499.5:n.259-3816_259-3812delinsTGCGCTGCAGAAG
ENST00000464624.6:n.2286_2290delinsTGCGCTGCAGAAG
ENST00000464788.5:n.67+2583_67+2587delinsTGCGCTGCAGAAG
ENST00000464960.5:n.406+2978_406+2982delinsTGCGCTGCAGAAG
ENST00000467227.5:n.123-3816_123-3812delinsTGCGCTGCAGAAG
ENST00000467321.5:n.154+2750_154+2754delinsTGCGCTGCAGAAG
ENST00000468895.5:n.50+2888_50+2892delinsTGCGCTGCAGAAG
ENST00000469431.5:n.256+2390_256+2394delinsTGCGCTGCAGAAG
ENST00000470512.5:n.210+2443_210+2447delinsTGCGCTGCAGAAG
ENST00000472183.5:n.392-3816_392-3812delinsTGCGCTGCAGAAG
ENST00000477931.5:n.254+2443_254+2447delinsTGCGCTGCAGAAG
ENST00000478585.5:n.194+2443_194+2447delinsTGCGCTGCAGAAG
ENST00000480232.5:n.155+2247_155+2251delinsTGCGCTGCAGAAG
ENST00000480975.5:n.183+2443_183+2447delinsTGCGCTGCAGAAG
ENST00000481039.5:n.56+2892_56+2896delinsTGCGCTGCAGAAG
ENST00000481768.5:n.1324-3816_1324-3812delinsTGCGCTGCAGAAG
ENST00000482112.5:n.259-3816_259-3812delinsTGCGCTGCAGAAG
ENST00000484504.5:n.127+2443_127+2447delinsTGCGCTGCAGAAG
ENST00000485673.5:n.426+2247_426+2251delinsTGCGCTGCAGAAG
ENST00000488546.5:n.40+2978_40+2982delinsTGCGCTGCAGAAG
ENST00000490374.5:n.255-3816_255-3812delinsTGCGCTGCAGAAG
ENST00000491348.5:n.534-3816_534-3812delinsTGCGCTGCAGAAG
ENST00000493744.5:n.233-3816_233-3812delinsTGCGCTGCAGAAG
ENST00000604005.5:c.-39+2464_-39+2468delinsTGCGCTGCAGAAG ENSP00000474219.1:n.-39+2464_-39+2468delinsTGCGCTGCAGAAG
NM_000516.4:c.70_74delinsTGCGCTGCAGAAG NP_000507.1:p.Lys24CysfsTer?
NM_000516.5:c.70_74delinsTGCGCTGCAGAAG NP_000507.1:p.Lys24CysfsTer?
NM_001077488.2:c.70_74delinsTGCGCTGCAGAAG NP_001070956.1:p.Lys24CysfsTer?
NM_001077488.3:c.70_74delinsTGCGCTGCAGAAG NP_001070956.1:p.Lys24CysfsTer?
NM_001077489.2:c.70_74delinsTGCGCTGCAGAAG NP_001070957.1:p.Lys24CysfsTer?
NM_001077489.3:c.70_74delinsTGCGCTGCAGAAG NP_001070957.1:p.Lys24CysfsTer?
NM_001077490.1:c.*1-3816_*1-3812delinsTGCGCTGCAGAAG NP_001070958.1:n.*1-3816_*1-3812delinsTGCGCTGCAGAAG
NM_001077490.2:c.*1-3816_*1-3812delinsTGCGCTGCAGAAG NP_001070958.1:n.*1-3816_*1-3812delinsTGCGCTGCAGAAG
NM_001309840.1:c.-39+2443_-39+2447delinsTGCGCTGCAGAAG NP_001296769.1:n.-39+2443_-39+2447delinsTGCGCTGCAGAAG
NM_001309842.1:c.70_74delinsTGCGCTGCAGAAG NP_001296771.1:p.Lys24CysfsTer?
NM_001309861.1:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG NP_001296790.1:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
NM_001309883.1:c.*159-3816_*159-3812delinsTGCGCTGCAGAAG NP_001296812.1:n.*159-3816_*159-3812delinsTGCGCTGCAGAAG
NM_016592.2:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG NP_057676.1:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
NM_016592.3:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG NP_057676.1:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
NM_080425.2:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG NP_536350.2:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
NM_080425.3:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG NP_536350.2:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
NM_080426.2:c.70_74delinsTGCGCTGCAGAAG NP_536351.1:p.Lys24CysfsTer?
NM_080426.3:c.70_74delinsTGCGCTGCAGAAG NP_536351.1:p.Lys24CysfsTer?
NR_003259.1:c.-4294967067+2443_-4294967067+2447delinsTGCGCTGCAGAAG
NR_132273.1:n.406+2978_406+2982delinsTGCGCTGCAGAAG
XM_017027812.2:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG XP_016883301.1:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
XM_017027813.2:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG XP_016883302.1:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
XM_017027814.2:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG XP_016883303.1:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG
XM_017027815.1:c.44-3816_44-3812delinsTGCGCTGCAGAAG XP_016883304.1:n.44-3816_44-3812delinsTGCGCTGCAGAAG
XM_017027816.1:c.-235_-231delinsTGCGCTGCAGAAG XP_016883305.1:n.-235_-231delinsTGCGCTGCAGAAG
XM_017027817.1:c.-39+2443_-39+2447delinsTGCGCTGCAGAAG XP_016883306.1:n.-39+2443_-39+2447delinsTGCGCTGCAGAAG
XM_017027819.1:c.-39+2464_-39+2468delinsTGCGCTGCAGAAG XP_016883308.1:n.-39+2464_-39+2468delinsTGCGCTGCAGAAG
XM_017027821.1:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG XP_016883310.1:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
XM_017027822.1:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG XP_016883311.1:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
XM_024451872.1:c.44-3816_44-3812delinsTGCGCTGCAGAAG XP_024307640.1:n.44-3816_44-3812delinsTGCGCTGCAGAAG
XM_024451875.1:c.-39+2464_-39+2468delinsTGCGCTGCAGAAG XP_024307643.1:n.-39+2464_-39+2468delinsTGCGCTGCAGAAG
XR_002958471.1:n.695_699delinsTGCGCTGCAGAAG
NM_000516.6:c.70_74delinsTGCGCTGCAGAAG NP_000507.1:p.Lys24CysfsTer?
NM_001077488.4:c.70_74delinsTGCGCTGCAGAAG NP_001070956.1:p.Lys24CysfsTer?
NM_001077489.4:c.70_74delinsTGCGCTGCAGAAG NP_001070957.1:p.Lys24CysfsTer?
NM_001309840.2:c.-39+2443_-39+2447delinsTGCGCTGCAGAAG NP_001296769.1:n.-39+2443_-39+2447delinsTGCGCTGCAGAAG
NM_001309842.2:c.70_74delinsTGCGCTGCAGAAG NP_001296771.1:p.Lys24CysfsTer?
NM_001309861.2:c.-38-3816_-38-3812delinsTGCGCTGCAGAAG NP_001296790.1:n.-38-3816_-38-3812delinsTGCGCTGCAGAAG
NM_016592.4:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG NP_057676.1:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
NM_080426.4:c.70_74delinsTGCGCTGCAGAAG NP_536351.1:p.Lys24CysfsTer?
NM_000516.7:c.70_74delinsTGCGCTGCAGAAG MANE Select NP_000507.1:p.Lys24CysfsTer?
NM_001077488.5:c.70_74delinsTGCGCTGCAGAAG NP_001070956.1:p.Lys24CysfsTer?
NM_001077490.3:c.*1-3816_*1-3812delinsTGCGCTGCAGAAG NP_001070958.1:n.*1-3816_*1-3812delinsTGCGCTGCAGAAG
NM_016592.5:c.*43-3816_*43-3812delinsTGCGCTGCAGAAG MANE Plus Clinical NP_057676.1:n.*43-3816_*43-3812delinsTGCGCTGCAGAAG
NM_080425.4:c.2069-3816_2069-3812delinsTGCGCTGCAGAAG MANE Plus Clinical NP_536350.2:n.2069-3816_2069-3812delinsTGCGCTGCAGAAG