Canonical Allele Identifier: CA2372519840
Gene: GNAS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58892163_58892175delinsCTCTTTCTCTCTT , CM000682.2:g.58892163_58892175delinsCTCTTTCTCTCTT GRCh38
NC_000020.10:g.57467218_57467230delinsCTCTTTCTCTCTT , CM000682.1:g.57467218_57467230delinsCTCTTTCTCTCTT GRCh37
NC_000020.9:g.56900613_56900625delinsCTCTTTCTCTCTT NCBI36
NG_016194.1:g.57424_57436delinsCTCTTTCTCTCTT
NG_016194.2:g.57424_57436delinsCTCTTTCTCTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT ENSP00000265621.6:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000419558.7:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT ENSP00000416234.2:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
ENST00000423897.7:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT ENSP00000412356.2:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000453292.7:c.781-3449_781-3437delinsCTCTTTCTCTCTT ENSP00000392000.2:n.781-3449_781-3437delinsCTCTTTCTCTCTT
ENST00000462499.6:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT ENSP00000499758.2:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
ENST00000464624.7:c.2160-3449_2160-3437delinsCTCTTTCTCTCTT ENSP00000499607.2:n.2160-3449_2160-3437delinsCTCTTTCTCTCTT
ENST00000464788.6:c.-39+2950_-39+2962delinsCTCTTTCTCTCTT ENSP00000499239.2:n.-39+2950_-39+2962delinsCTCTTTCTCTCTT
ENST00000467227.6:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT ENSP00000499681.2:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
ENST00000467321.6:c.-39+3117_-39+3129delinsCTCTTTCTCTCTT ENSP00000499523.2:n.-39+3117_-39+3129delinsCTCTTTCTCTCTT
ENST00000468895.6:c.139+298_139+310delinsCTCTTTCTCTCTT ENSP00000499551.2:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000469431.6:c.-39+2757_-39+2769delinsCTCTTTCTCTCTT ENSP00000499654.2:n.-39+2757_-39+2769delinsCTCTTTCTCTCTT
ENST00000470512.6:c.-39+2810_-39+2822delinsCTCTTTCTCTCTT ENSP00000499552.2:n.-39+2810_-39+2822delinsCTCTTTCTCTCTT
ENST00000472183.6:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT ENSP00000499673.2:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
ENST00000476935.6:c.-85_-73delinsCTCTTTCTCTCTT ENSP00000499409.2:n.-85_-73delinsCTCTTTCTCTCTT
ENST00000478585.6:c.-39+2810_-39+2822delinsCTCTTTCTCTCTT ENSP00000499762.2:n.-39+2810_-39+2822delinsCTCTTTCTCTCTT
ENST00000480232.6:c.-39+2614_-39+2626delinsCTCTTTCTCTCTT ENSP00000499545.2:n.-39+2614_-39+2626delinsCTCTTTCTCTCTT
ENST00000481039.6:c.-39+3255_-39+3267delinsCTCTTTCTCTCTT ENSP00000499767.2:n.-39+3255_-39+3267delinsCTCTTTCTCTCTT
ENST00000482112.6:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT ENSP00000499794.2:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
ENST00000485673.6:c.-39+2614_-39+2626delinsCTCTTTCTCTCTT ENSP00000499334.2:n.-39+2614_-39+2626delinsCTCTTTCTCTCTT
ENST00000488546.6:c.-39+3345_-39+3357delinsCTCTTTCTCTCTT ENSP00000499332.2:n.-39+3345_-39+3357delinsCTCTTTCTCTCTT
ENST00000488652.6:c.-85_-73delinsCTCTTTCTCTCTT ENSP00000499435.2:n.-85_-73delinsCTCTTTCTCTCTT
ENST00000492907.6:c.-85_-73delinsCTCTTTCTCTCTT ENSP00000499443.2:n.-85_-73delinsCTCTTTCTCTCTT
ENST00000604005.6:c.-39+2831_-39+2843delinsCTCTTTCTCTCTT ENSP00000474219.2:n.-39+2831_-39+2843delinsCTCTTTCTCTCTT
ENST00000663479.2:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT ENSP00000499353.2:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
ENST00000667293.2:c.-39+3259_-39+3271delinsCTCTTTCTCTCTT ENSP00000499293.2:n.-39+3259_-39+3271delinsCTCTTTCTCTCTT
ENST00000676826.2:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT ENSP00000504675.2:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000682803.1:c.-366+298_-366+310delinsCTCTTTCTCTCTT ENSP00000507069.1:n.-366+298_-366+310delinsCTCTTTCTCTCTT
ENST00000683015.1:c.909+1374_909+1386delinsCTCTTTCTCTCTT ENSP00000506815.1:n.909+1374_909+1386delinsCTCTTTCTCTCTT
ENST00000306090.12:c.44-3449_44-3437delinsCTCTTTCTCTCTT ENSP00000304472.12:n.44-3449_44-3437delinsCTCTTTCTCTCTT
ENST00000338783.7:c.139+298_139+310delinsCTCTTTCTCTCTT ENSP00000345971.7:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000349036.8:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT ENSP00000265621.5:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000354359.12:c.139+298_139+310delinsCTCTTTCTCTCTT ENSP00000346328.7:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000371085.8:c.139+298_139+310delinsCTCTTTCTCTCTT MANE Select ENSP00000360126.3:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000371100.9:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT MANE Plus Clinical ENSP00000360141.3:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000419558.6:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT ENSP00000416234.2:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
ENST00000423897.6:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT ENSP00000412356.2:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000453292.6:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT ENSP00000392000.2:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
ENST00000461152.6:c.909+1374_909+1386delinsCTCTTTCTCTCTT ENSP00000499274.1:n.909+1374_909+1386delinsCTCTTTCTCTCTT
ENST00000481768.6:c.2227-3449_2227-3437delinsCTCTTTCTCTCTT ENSP00000499644.2:n.2227-3449_2227-3437delinsCTCTTTCTCTCTT
ENST00000490374.6:n.223-3449_223-3437delinsCTCTTTCTCTCTT
ENST00000657090.1:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT ENSP00000499380.1:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
ENST00000663479.1:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT ENSP00000499353.1:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
ENST00000667293.1:c.11-3449_11-3437delinsCTCTTTCTCTCTT ENSP00000499293.1:n.11-3449_11-3437delinsCTCTTTCTCTCTT
ENST00000676826.1:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT ENSP00000504675.1:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000265620.11:c.139+298_139+310delinsCTCTTTCTCTCTT ENSP00000265620.7:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000306090.11:c.93+344_93+356delinsCTCTTTCTCTCTT ENSP00000304472.11:n.93+344_93+356delinsCTCTTTCTCTCTT
ENST00000313949.11:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT ENSP00000323571.7:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
ENST00000338783.6:c.106+298_106+310delinsCTCTTTCTCTCTT ENSP00000345971.6:n.106+298_106+310delinsCTCTTTCTCTCTT
ENST00000349036.7:c.188-3449_188-3437delinsCTCTTTCTCTCTT ENSP00000265621.4:n.188-3449_188-3437delinsCTCTTTCTCTCTT
ENST00000354359.11:c.139+298_139+310delinsCTCTTTCTCTCTT ENSP00000346328.7:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000371075.7:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT MANE Plus Clinical ENSP00000360115.3:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
ENST00000371081.5:c.139+298_139+310delinsCTCTTTCTCTCTT ENSP00000360122.1:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000371085.7:c.139+298_139+310delinsCTCTTTCTCTCTT ENSP00000360126.3:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000371095.7:c.139+298_139+310delinsCTCTTTCTCTCTT ENSP00000360136.3:n.139+298_139+310delinsCTCTTTCTCTCTT
ENST00000371098.6:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT ENSP00000360139.2:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
ENST00000371100.8:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT ENSP00000360141.3:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000371102.8:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT ENSP00000360143.4:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
ENST00000419558.5:c.384-3449_384-3437delinsCTCTTTCTCTCTT
ENST00000423897.5:c.157-3449_157-3437delinsCTCTTTCTCTCTT
ENST00000450130.5:c.228-3449_228-3437delinsCTCTTTCTCTCTT
ENST00000453292.5:c.544-3449_544-3437delinsCTCTTTCTCTCTT ENSP00000392000.1:n.544-3449_544-3437delinsCTCTTTCTCTCTT
ENST00000461152.5:n.147+1374_147+1386delinsCTCTTTCTCTCTT
ENST00000462499.5:n.259-3449_259-3437delinsCTCTTTCTCTCTT
ENST00000464624.6:n.2355+298_2355+310delinsCTCTTTCTCTCTT
ENST00000464788.5:n.67+2950_67+2962delinsCTCTTTCTCTCTT
ENST00000464960.5:n.406+3345_406+3357delinsCTCTTTCTCTCTT
ENST00000467227.5:n.123-3449_123-3437delinsCTCTTTCTCTCTT
ENST00000467321.5:n.154+3117_154+3129delinsCTCTTTCTCTCTT
ENST00000468895.5:n.50+3255_50+3267delinsCTCTTTCTCTCTT
ENST00000469431.5:n.256+2757_256+2769delinsCTCTTTCTCTCTT
ENST00000470512.5:n.210+2810_210+2822delinsCTCTTTCTCTCTT
ENST00000472183.5:n.392-3449_392-3437delinsCTCTTTCTCTCTT
ENST00000476935.5:n.127_139delinsCTCTTTCTCTCTT
ENST00000477931.5:n.254+2810_254+2822delinsCTCTTTCTCTCTT
ENST00000478585.5:n.194+2810_194+2822delinsCTCTTTCTCTCTT
ENST00000480232.5:n.155+2614_155+2626delinsCTCTTTCTCTCTT
ENST00000480975.5:n.183+2810_183+2822delinsCTCTTTCTCTCTT
ENST00000481039.5:n.56+3259_56+3271delinsCTCTTTCTCTCTT
ENST00000481768.5:n.1324-3449_1324-3437delinsCTCTTTCTCTCTT
ENST00000482112.5:n.259-3449_259-3437delinsCTCTTTCTCTCTT
ENST00000484504.5:n.127+2810_127+2822delinsCTCTTTCTCTCTT
ENST00000485673.5:n.426+2614_426+2626delinsCTCTTTCTCTCTT
ENST00000488546.5:n.40+3345_40+3357delinsCTCTTTCTCTCTT
ENST00000488652.5:n.183_195delinsCTCTTTCTCTCTT
ENST00000490374.5:n.255-3449_255-3437delinsCTCTTTCTCTCTT
ENST00000491348.5:n.534-3449_534-3437delinsCTCTTTCTCTCTT
ENST00000492907.5:n.86_98delinsCTCTTTCTCTCTT
ENST00000493744.5:n.233-3449_233-3437delinsCTCTTTCTCTCTT
ENST00000604005.5:c.-39+2831_-39+2843delinsCTCTTTCTCTCTT ENSP00000474219.1:n.-39+2831_-39+2843delinsCTCTTTCTCTCTT
NM_000516.4:c.139+298_139+310delinsCTCTTTCTCTCTT NP_000507.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_000516.5:c.139+298_139+310delinsCTCTTTCTCTCTT NP_000507.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077488.2:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001070956.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077488.3:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001070956.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077489.2:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001070957.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077489.3:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001070957.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077490.1:c.*1-3449_*1-3437delinsCTCTTTCTCTCTT NP_001070958.1:n.*1-3449_*1-3437delinsCTCTTTCTCTCTT
NM_001077490.2:c.*1-3449_*1-3437delinsCTCTTTCTCTCTT NP_001070958.1:n.*1-3449_*1-3437delinsCTCTTTCTCTCTT
NM_001309840.1:c.-39+2810_-39+2822delinsCTCTTTCTCTCTT NP_001296769.1:n.-39+2810_-39+2822delinsCTCTTTCTCTCTT
NM_001309842.1:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001296771.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001309861.1:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT NP_001296790.1:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
NM_001309883.1:c.*159-3449_*159-3437delinsCTCTTTCTCTCTT NP_001296812.1:n.*159-3449_*159-3437delinsCTCTTTCTCTCTT
NM_016592.2:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT NP_057676.1:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
NM_016592.3:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT NP_057676.1:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
NM_080425.2:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT NP_536350.2:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
NM_080425.3:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT NP_536350.2:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
NM_080426.2:c.139+298_139+310delinsCTCTTTCTCTCTT NP_536351.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_080426.3:c.139+298_139+310delinsCTCTTTCTCTCTT NP_536351.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NR_003259.1:c.-4294967067+2810_-4294967067+2822delinsCTCTTTCTCTCTT
NR_132273.1:n.406+3345_406+3357delinsCTCTTTCTCTCTT
XM_017027812.2:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT XP_016883301.1:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
XM_017027813.2:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT XP_016883302.1:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
XM_017027814.2:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT XP_016883303.1:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
XM_017027815.1:c.44-3449_44-3437delinsCTCTTTCTCTCTT XP_016883304.1:n.44-3449_44-3437delinsCTCTTTCTCTCTT
XM_017027816.1:c.-166+298_-166+310delinsCTCTTTCTCTCTT XP_016883305.1:n.-166+298_-166+310delinsCTCTTTCTCTCTT
XM_017027817.1:c.-39+2810_-39+2822delinsCTCTTTCTCTCTT XP_016883306.1:n.-39+2810_-39+2822delinsCTCTTTCTCTCTT
XM_017027818.2:c.-85_-73delinsCTCTTTCTCTCTT XP_016883307.1:n.-85_-73delinsCTCTTTCTCTCTT
XM_017027819.1:c.-39+2831_-39+2843delinsCTCTTTCTCTCTT XP_016883308.1:n.-39+2831_-39+2843delinsCTCTTTCTCTCTT
XM_017027821.1:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT XP_016883310.1:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
XM_017027822.1:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT XP_016883311.1:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
XM_024451872.1:c.44-3449_44-3437delinsCTCTTTCTCTCTT XP_024307640.1:n.44-3449_44-3437delinsCTCTTTCTCTCTT
XM_024451873.1:c.-85_-73delinsCTCTTTCTCTCTT XP_024307641.1:n.-85_-73delinsCTCTTTCTCTCTT
XM_024451875.1:c.-39+2831_-39+2843delinsCTCTTTCTCTCTT XP_024307643.1:n.-39+2831_-39+2843delinsCTCTTTCTCTCTT
XR_002958471.1:n.764+298_764+310delinsCTCTTTCTCTCTT
NM_000516.6:c.139+298_139+310delinsCTCTTTCTCTCTT NP_000507.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077488.4:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001070956.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077489.4:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001070957.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001309840.2:c.-39+2810_-39+2822delinsCTCTTTCTCTCTT NP_001296769.1:n.-39+2810_-39+2822delinsCTCTTTCTCTCTT
NM_001309842.2:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001296771.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001309861.2:c.-38-3449_-38-3437delinsCTCTTTCTCTCTT NP_001296790.1:n.-38-3449_-38-3437delinsCTCTTTCTCTCTT
NM_016592.4:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT NP_057676.1:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
NM_080426.4:c.139+298_139+310delinsCTCTTTCTCTCTT NP_536351.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NR_132272.2:n.1_13delinsCTCTTTCTCTCTT
NM_000516.7:c.139+298_139+310delinsCTCTTTCTCTCTT MANE Select NP_000507.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077488.5:c.139+298_139+310delinsCTCTTTCTCTCTT NP_001070956.1:n.139+298_139+310delinsCTCTTTCTCTCTT
NM_001077490.3:c.*1-3449_*1-3437delinsCTCTTTCTCTCTT NP_001070958.1:n.*1-3449_*1-3437delinsCTCTTTCTCTCTT
NM_016592.5:c.*43-3449_*43-3437delinsCTCTTTCTCTCTT MANE Plus Clinical NP_057676.1:n.*43-3449_*43-3437delinsCTCTTTCTCTCTT
NM_080425.4:c.2069-3449_2069-3437delinsCTCTTTCTCTCTT MANE Plus Clinical NP_536350.2:n.2069-3449_2069-3437delinsCTCTTTCTCTCTT
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