Canonical Allele Identifier: CA2372519388
Gene: GNAS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891722_58891728delinsCCGCCAT , CM000682.2:g.58891722_58891728delinsCCGCCAT GRCh38
NC_000020.10:g.57466777_57466783delinsCCGCCAT , CM000682.1:g.57466777_57466783delinsCCGCCAT GRCh37
NC_000020.9:g.56900172_56900178delinsCCGCCAT NCBI36
NG_016194.1:g.56983_56989delinsCCGCCAT
NG_016194.2:g.56983_56989delinsCCGCCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3890_2069-3884delinsCCGCCAT ENSP00000265621.6:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000419558.7:c.*43-3890_*43-3884delinsCCGCCAT ENSP00000416234.2:n.*43-3890_*43-3884delinsCCGCCAT
ENST00000423897.7:c.2069-3890_2069-3884delinsCCGCCAT ENSP00000412356.2:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000453292.7:c.781-3890_781-3884delinsCCGCCAT ENSP00000392000.2:n.781-3890_781-3884delinsCCGCCAT
ENST00000462499.6:c.-38-3890_-38-3884delinsCCGCCAT ENSP00000499758.2:n.-38-3890_-38-3884delinsCCGCCAT
ENST00000464624.7:c.2160-3890_2160-3884delinsCCGCCAT ENSP00000499607.2:n.2160-3890_2160-3884delinsCCGCCAT
ENST00000464788.6:c.-39+2509_-39+2515delinsCCGCCAT ENSP00000499239.2:n.-39+2509_-39+2515delinsCCGCCAT
ENST00000467227.6:c.-38-3890_-38-3884delinsCCGCCAT ENSP00000499681.2:n.-38-3890_-38-3884delinsCCGCCAT
ENST00000467321.6:c.-39+2676_-39+2682delinsCCGCCAT ENSP00000499523.2:n.-39+2676_-39+2682delinsCCGCCAT
ENST00000468895.6:c.-5_2delinsCCGCCAT
ENST00000469431.6:c.-39+2316_-39+2322delinsCCGCCAT ENSP00000499654.2:n.-39+2316_-39+2322delinsCCGCCAT
ENST00000470512.6:c.-39+2369_-39+2375delinsCCGCCAT ENSP00000499552.2:n.-39+2369_-39+2375delinsCCGCCAT
ENST00000472183.6:c.-38-3890_-38-3884delinsCCGCCAT ENSP00000499673.2:n.-38-3890_-38-3884delinsCCGCCAT
ENST00000478585.6:c.-39+2369_-39+2375delinsCCGCCAT ENSP00000499762.2:n.-39+2369_-39+2375delinsCCGCCAT
ENST00000480232.6:c.-39+2173_-39+2179delinsCCGCCAT ENSP00000499545.2:n.-39+2173_-39+2179delinsCCGCCAT
ENST00000481039.6:c.-39+2814_-39+2820delinsCCGCCAT ENSP00000499767.2:n.-39+2814_-39+2820delinsCCGCCAT
ENST00000482112.6:c.-38-3890_-38-3884delinsCCGCCAT ENSP00000499794.2:n.-38-3890_-38-3884delinsCCGCCAT
ENST00000485673.6:c.-39+2173_-39+2179delinsCCGCCAT ENSP00000499334.2:n.-39+2173_-39+2179delinsCCGCCAT
ENST00000488546.6:c.-39+2904_-39+2910delinsCCGCCAT ENSP00000499332.2:n.-39+2904_-39+2910delinsCCGCCAT
ENST00000604005.6:c.-39+2390_-39+2396delinsCCGCCAT ENSP00000474219.2:n.-39+2390_-39+2396delinsCCGCCAT
ENST00000663479.2:c.-38-3890_-38-3884delinsCCGCCAT ENSP00000499353.2:n.-38-3890_-38-3884delinsCCGCCAT
ENST00000667293.2:c.-39+2818_-39+2824delinsCCGCCAT ENSP00000499293.2:n.-39+2818_-39+2824delinsCCGCCAT
ENST00000676826.2:c.2069-3890_2069-3884delinsCCGCCAT ENSP00000504675.2:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000683015.1:c.909+933_909+939delinsCCGCCAT ENSP00000506815.1:n.909+933_909+939delinsCCGCCAT
ENST00000306090.12:c.44-3890_44-3884delinsCCGCCAT ENSP00000304472.12:n.44-3890_44-3884delinsCCGCCAT
ENST00000349036.8:c.2069-3890_2069-3884delinsCCGCCAT ENSP00000265621.5:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000354359.12:c.-5_2delinsCCGCCAT
ENST00000371085.8:c.-5_2delinsCCGCCAT
ENST00000371100.9:c.2069-3890_2069-3884delinsCCGCCAT MANE Plus Clinical ENSP00000360141.3:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000419558.6:c.*43-3890_*43-3884delinsCCGCCAT ENSP00000416234.2:n.*43-3890_*43-3884delinsCCGCCAT
ENST00000423897.6:c.2069-3890_2069-3884delinsCCGCCAT ENSP00000412356.2:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000453292.6:c.*43-3890_*43-3884delinsCCGCCAT ENSP00000392000.2:n.*43-3890_*43-3884delinsCCGCCAT
ENST00000461152.6:c.909+933_909+939delinsCCGCCAT ENSP00000499274.1:n.909+933_909+939delinsCCGCCAT
ENST00000481768.6:c.2227-3890_2227-3884delinsCCGCCAT ENSP00000499644.2:n.2227-3890_2227-3884delinsCCGCCAT
ENST00000490374.6:n.223-3890_223-3884delinsCCGCCAT
ENST00000657090.1:c.-38-3890_-38-3884delinsCCGCCAT ENSP00000499380.1:n.-38-3890_-38-3884delinsCCGCCAT
ENST00000663479.1:c.-38-3890_-38-3884delinsCCGCCAT ENSP00000499353.1:n.-38-3890_-38-3884delinsCCGCCAT
ENST00000667293.1:c.11-3890_11-3884delinsCCGCCAT ENSP00000499293.1:n.11-3890_11-3884delinsCCGCCAT
ENST00000676826.1:c.2069-3890_2069-3884delinsCCGCCAT ENSP00000504675.1:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000265620.11:c.-5_2delinsCCGCCAT
ENST00000313949.11:c.*43-3890_*43-3884delinsCCGCCAT ENSP00000323571.7:n.*43-3890_*43-3884delinsCCGCCAT
ENST00000349036.7:c.188-3890_188-3884delinsCCGCCAT ENSP00000265621.4:n.188-3890_188-3884delinsCCGCCAT
ENST00000354359.11:c.-5_2delinsCCGCCAT
ENST00000371075.7:c.*43-3890_*43-3884delinsCCGCCAT MANE Plus Clinical ENSP00000360115.3:n.*43-3890_*43-3884delinsCCGCCAT
ENST00000371081.5:c.-5_2delinsCCGCCAT
ENST00000371085.7:c.-5_2delinsCCGCCAT
ENST00000371095.7:c.-5_2delinsCCGCCAT
ENST00000371098.6:c.*43-3890_*43-3884delinsCCGCCAT ENSP00000360139.2:n.*43-3890_*43-3884delinsCCGCCAT
ENST00000371100.8:c.2069-3890_2069-3884delinsCCGCCAT ENSP00000360141.3:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000371102.8:c.2069-3890_2069-3884delinsCCGCCAT ENSP00000360143.4:n.2069-3890_2069-3884delinsCCGCCAT
ENST00000419558.5:c.384-3890_384-3884delinsCCGCCAT
ENST00000423897.5:c.157-3890_157-3884delinsCCGCCAT
ENST00000450130.5:c.228-3890_228-3884delinsCCGCCAT
ENST00000453292.5:c.544-3890_544-3884delinsCCGCCAT ENSP00000392000.1:n.544-3890_544-3884delinsCCGCCAT
ENST00000461152.5:n.147+933_147+939delinsCCGCCAT
ENST00000462499.5:n.259-3890_259-3884delinsCCGCCAT
ENST00000464624.6:n.2212_2218delinsCCGCCAT
ENST00000464788.5:n.67+2509_67+2515delinsCCGCCAT
ENST00000464960.5:n.406+2904_406+2910delinsCCGCCAT
ENST00000467227.5:n.123-3890_123-3884delinsCCGCCAT
ENST00000467321.5:n.154+2676_154+2682delinsCCGCCAT
ENST00000468895.5:n.50+2814_50+2820delinsCCGCCAT
ENST00000469431.5:n.256+2316_256+2322delinsCCGCCAT
ENST00000470512.5:n.210+2369_210+2375delinsCCGCCAT
ENST00000472183.5:n.392-3890_392-3884delinsCCGCCAT
ENST00000477931.5:n.254+2369_254+2375delinsCCGCCAT
ENST00000478585.5:n.194+2369_194+2375delinsCCGCCAT
ENST00000480232.5:n.155+2173_155+2179delinsCCGCCAT
ENST00000480975.5:n.183+2369_183+2375delinsCCGCCAT
ENST00000481039.5:n.56+2818_56+2824delinsCCGCCAT
ENST00000481768.5:n.1324-3890_1324-3884delinsCCGCCAT
ENST00000482112.5:n.259-3890_259-3884delinsCCGCCAT
ENST00000484504.5:n.127+2369_127+2375delinsCCGCCAT
ENST00000485673.5:n.426+2173_426+2179delinsCCGCCAT
ENST00000488546.5:n.40+2904_40+2910delinsCCGCCAT
ENST00000490374.5:n.255-3890_255-3884delinsCCGCCAT
ENST00000491348.5:n.534-3890_534-3884delinsCCGCCAT
ENST00000493744.5:n.233-3890_233-3884delinsCCGCCAT
ENST00000604005.5:c.-39+2390_-39+2396delinsCCGCCAT ENSP00000474219.1:n.-39+2390_-39+2396delinsCCGCCAT
NM_000516.4:c.-5_2delinsCCGCCAT
NM_000516.5:c.-5_2delinsCCGCCAT
NM_001077488.2:c.-5_2delinsCCGCCAT
NM_001077488.3:c.-5_2delinsCCGCCAT
NM_001077489.2:c.-5_2delinsCCGCCAT
NM_001077489.3:c.-5_2delinsCCGCCAT
NM_001077490.1:c.*1-3890_*1-3884delinsCCGCCAT NP_001070958.1:n.*1-3890_*1-3884delinsCCGCCAT
NM_001077490.2:c.*1-3890_*1-3884delinsCCGCCAT NP_001070958.1:n.*1-3890_*1-3884delinsCCGCCAT
NM_001309840.1:c.-39+2369_-39+2375delinsCCGCCAT NP_001296769.1:n.-39+2369_-39+2375delinsCCGCCAT
NM_001309842.1:c.-5_2delinsCCGCCAT
NM_001309861.1:c.-38-3890_-38-3884delinsCCGCCAT NP_001296790.1:n.-38-3890_-38-3884delinsCCGCCAT
NM_001309883.1:c.*159-3890_*159-3884delinsCCGCCAT NP_001296812.1:n.*159-3890_*159-3884delinsCCGCCAT
NM_016592.2:c.*43-3890_*43-3884delinsCCGCCAT NP_057676.1:n.*43-3890_*43-3884delinsCCGCCAT
NM_016592.3:c.*43-3890_*43-3884delinsCCGCCAT NP_057676.1:n.*43-3890_*43-3884delinsCCGCCAT
NM_080425.2:c.2069-3890_2069-3884delinsCCGCCAT NP_536350.2:n.2069-3890_2069-3884delinsCCGCCAT
NM_080425.3:c.2069-3890_2069-3884delinsCCGCCAT NP_536350.2:n.2069-3890_2069-3884delinsCCGCCAT
NM_080426.2:c.-5_2delinsCCGCCAT
NM_080426.3:c.-5_2delinsCCGCCAT
NR_003259.1:c.-4294967067+2369_-4294967067+2375delinsCCGCCAT
NR_132273.1:n.406+2904_406+2910delinsCCGCCAT
XM_017027812.2:c.2069-3890_2069-3884delinsCCGCCAT XP_016883301.1:n.2069-3890_2069-3884delinsCCGCCAT
XM_017027813.2:c.2069-3890_2069-3884delinsCCGCCAT XP_016883302.1:n.2069-3890_2069-3884delinsCCGCCAT
XM_017027814.2:c.2069-3890_2069-3884delinsCCGCCAT XP_016883303.1:n.2069-3890_2069-3884delinsCCGCCAT
XM_017027815.1:c.44-3890_44-3884delinsCCGCCAT XP_016883304.1:n.44-3890_44-3884delinsCCGCCAT
XM_017027816.1:c.-309_-303delinsCCGCCAT XP_016883305.1:n.-309_-303delinsCCGCCAT
XM_017027817.1:c.-39+2369_-39+2375delinsCCGCCAT XP_016883306.1:n.-39+2369_-39+2375delinsCCGCCAT
XM_017027819.1:c.-39+2390_-39+2396delinsCCGCCAT XP_016883308.1:n.-39+2390_-39+2396delinsCCGCCAT
XM_017027821.1:c.*43-3890_*43-3884delinsCCGCCAT XP_016883310.1:n.*43-3890_*43-3884delinsCCGCCAT
XM_017027822.1:c.*43-3890_*43-3884delinsCCGCCAT XP_016883311.1:n.*43-3890_*43-3884delinsCCGCCAT
XM_024451872.1:c.44-3890_44-3884delinsCCGCCAT XP_024307640.1:n.44-3890_44-3884delinsCCGCCAT
XM_024451875.1:c.-39+2390_-39+2396delinsCCGCCAT XP_024307643.1:n.-39+2390_-39+2396delinsCCGCCAT
XR_002958471.1:n.621_627delinsCCGCCAT
NM_000516.6:c.-5_2delinsCCGCCAT
NM_001077488.4:c.-5_2delinsCCGCCAT
NM_001077489.4:c.-5_2delinsCCGCCAT
NM_001309840.2:c.-39+2369_-39+2375delinsCCGCCAT NP_001296769.1:n.-39+2369_-39+2375delinsCCGCCAT
NM_001309842.2:c.-5_2delinsCCGCCAT
NM_001309861.2:c.-38-3890_-38-3884delinsCCGCCAT NP_001296790.1:n.-38-3890_-38-3884delinsCCGCCAT
NM_016592.4:c.*43-3890_*43-3884delinsCCGCCAT NP_057676.1:n.*43-3890_*43-3884delinsCCGCCAT
NM_080426.4:c.-5_2delinsCCGCCAT
NM_000516.7:c.-5_2delinsCCGCCAT
NM_001077488.5:c.-5_2delinsCCGCCAT
NM_001077490.3:c.*1-3890_*1-3884delinsCCGCCAT NP_001070958.1:n.*1-3890_*1-3884delinsCCGCCAT
NM_016592.5:c.*43-3890_*43-3884delinsCCGCCAT MANE Plus Clinical NP_057676.1:n.*43-3890_*43-3884delinsCCGCCAT
NM_080425.4:c.2069-3890_2069-3884delinsCCGCCAT MANE Plus Clinical NP_536350.2:n.2069-3890_2069-3884delinsCCGCCAT
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