Canonical Allele Identifier: CA2816858901
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891514_58891515dup , CM000682.2:g.58891514_58891515dup GRCh38
NC_000020.10:g.57466569_57466570dup , CM000682.1:g.57466569_57466570dup GRCh37
NC_000020.9:g.56899964_56899965dup NCBI36
NG_016194.1:g.56775_56776dup
NG_016194.2:g.56775_56776dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-4098_2069-4097dup ENSP00000265621.6:n.2069-4098_2069-4097dup
ENST00000419558.7:c.*43-4098_*43-4097dup ENSP00000416234.2:n.*43-4098_*43-4097dup
ENST00000423897.7:c.2069-4098_2069-4097dup ENSP00000412356.2:n.2069-4098_2069-4097dup
ENST00000453292.7:c.781-4098_781-4097dup ENSP00000392000.2:n.781-4098_781-4097dup
ENST00000462499.6:c.-38-4098_-38-4097dup ENSP00000499758.2:n.-38-4098_-38-4097dup
ENST00000464624.7:c.2160-4098_2160-4097dup ENSP00000499607.2:n.2160-4098_2160-4097dup
ENST00000464788.6:c.-39+2301_-39+2302dup ENSP00000499239.2:n.-39+2301_-39+2302dup
ENST00000467227.6:c.-38-4098_-38-4097dup ENSP00000499681.2:n.-38-4098_-38-4097dup
ENST00000467321.6:c.-39+2468_-39+2469dup ENSP00000499523.2:n.-39+2468_-39+2469dup
ENST00000469431.6:c.-39+2108_-39+2109dup ENSP00000499654.2:n.-39+2108_-39+2109dup
ENST00000470512.6:c.-39+2161_-39+2162dup ENSP00000499552.2:n.-39+2161_-39+2162dup
ENST00000472183.6:c.-38-4098_-38-4097dup ENSP00000499673.2:n.-38-4098_-38-4097dup
ENST00000478585.6:c.-39+2161_-39+2162dup ENSP00000499762.2:n.-39+2161_-39+2162dup
ENST00000480232.6:c.-39+1965_-39+1966dup ENSP00000499545.2:n.-39+1965_-39+1966dup
ENST00000481039.6:c.-39+2606_-39+2607dup ENSP00000499767.2:n.-39+2606_-39+2607dup
ENST00000482112.6:c.-38-4098_-38-4097dup ENSP00000499794.2:n.-38-4098_-38-4097dup
ENST00000485673.6:c.-39+1965_-39+1966dup ENSP00000499334.2:n.-39+1965_-39+1966dup
ENST00000488546.6:c.-39+2696_-39+2697dup ENSP00000499332.2:n.-39+2696_-39+2697dup
ENST00000604005.6:c.-39+2182_-39+2183dup ENSP00000474219.2:n.-39+2182_-39+2183dup
ENST00000663479.2:c.-38-4098_-38-4097dup ENSP00000499353.2:n.-38-4098_-38-4097dup
ENST00000667293.2:c.-39+2610_-39+2611dup ENSP00000499293.2:n.-39+2610_-39+2611dup
ENST00000676826.2:c.2069-4098_2069-4097dup ENSP00000504675.2:n.2069-4098_2069-4097dup
ENST00000683015.1:c.909+725_909+726dup ENSP00000506815.1:n.909+725_909+726dup
ENST00000306090.12:c.44-4098_44-4097dup ENSP00000304472.12:n.44-4098_44-4097dup
ENST00000349036.8:c.2069-4098_2069-4097dup ENSP00000265621.5:n.2069-4098_2069-4097dup
ENST00000354359.12:c.-213_-212dup ENSP00000346328.7:n.-213_-212dup
ENST00000371085.8:c.-213_-212dup MANE Select ENSP00000360126.3:n.-213_-212dup
ENST00000371100.9:c.2069-4098_2069-4097dup MANE Plus Clinical ENSP00000360141.3:n.2069-4098_2069-4097dup
ENST00000419558.6:c.*43-4098_*43-4097dup ENSP00000416234.2:n.*43-4098_*43-4097dup
ENST00000423897.6:c.2069-4098_2069-4097dup ENSP00000412356.2:n.2069-4098_2069-4097dup
ENST00000453292.6:c.*43-4098_*43-4097dup ENSP00000392000.2:n.*43-4098_*43-4097dup
ENST00000461152.6:c.909+725_909+726dup ENSP00000499274.1:n.909+725_909+726dup
ENST00000481768.6:c.2227-4098_2227-4097dup ENSP00000499644.2:n.2227-4098_2227-4097dup
ENST00000490374.6:n.223-4098_223-4097dup
ENST00000657090.1:c.-38-4098_-38-4097dup ENSP00000499380.1:n.-38-4098_-38-4097dup
ENST00000663479.1:c.-38-4098_-38-4097dup ENSP00000499353.1:n.-38-4098_-38-4097dup
ENST00000667293.1:c.11-4098_11-4097dup ENSP00000499293.1:n.11-4098_11-4097dup
ENST00000676826.1:c.2069-4098_2069-4097dup ENSP00000504675.1:n.2069-4098_2069-4097dup
ENST00000265620.11:c.-213_-212dup ENSP00000265620.7:n.-213_-212dup
ENST00000313949.11:c.*43-4098_*43-4097dup ENSP00000323571.7:n.*43-4098_*43-4097dup
ENST00000349036.7:c.188-4098_188-4097dup ENSP00000265621.4:n.188-4098_188-4097dup
ENST00000354359.11:c.-213_-212dup ENSP00000346328.7:n.-213_-212dup
ENST00000371075.7:c.*43-4098_*43-4097dup MANE Plus Clinical ENSP00000360115.3:n.*43-4098_*43-4097dup
ENST00000371085.7:c.-213_-212dup ENSP00000360126.3:n.-213_-212dup
ENST00000371095.7:c.-213_-212dup ENSP00000360136.3:n.-213_-212dup
ENST00000371098.6:c.*43-4098_*43-4097dup ENSP00000360139.2:n.*43-4098_*43-4097dup
ENST00000371100.8:c.2069-4098_2069-4097dup ENSP00000360141.3:n.2069-4098_2069-4097dup
ENST00000371102.8:c.2069-4098_2069-4097dup ENSP00000360143.4:n.2069-4098_2069-4097dup
ENST00000419558.5:c.384-4098_384-4097dup
ENST00000423897.5:c.157-4098_157-4097dup
ENST00000450130.5:c.228-4098_228-4097dup
ENST00000453292.5:c.544-4098_544-4097dup ENSP00000392000.1:n.544-4098_544-4097dup
ENST00000461152.5:n.147+725_147+726dup
ENST00000462499.5:n.259-4098_259-4097dup
ENST00000464624.6:n.2072-68_2072-67dup
ENST00000464788.5:n.67+2301_67+2302dup
ENST00000464960.5:n.406+2696_406+2697dup
ENST00000467227.5:n.123-4098_123-4097dup
ENST00000467321.5:n.154+2468_154+2469dup
ENST00000468895.5:n.50+2606_50+2607dup
ENST00000469431.5:n.256+2108_256+2109dup
ENST00000470512.5:n.210+2161_210+2162dup
ENST00000472183.5:n.392-4098_392-4097dup
ENST00000477931.5:n.254+2161_254+2162dup
ENST00000478585.5:n.194+2161_194+2162dup
ENST00000480232.5:n.155+1965_155+1966dup
ENST00000480975.5:n.183+2161_183+2162dup
ENST00000481039.5:n.56+2610_56+2611dup
ENST00000481768.5:n.1324-4098_1324-4097dup
ENST00000482112.5:n.259-4098_259-4097dup
ENST00000484504.5:n.127+2161_127+2162dup
ENST00000485673.5:n.426+1965_426+1966dup
ENST00000488546.5:n.40+2696_40+2697dup
ENST00000490374.5:n.255-4098_255-4097dup
ENST00000491348.5:n.534-4098_534-4097dup
ENST00000493744.5:n.233-4098_233-4097dup
ENST00000604005.5:c.-39+2182_-39+2183dup ENSP00000474219.1:n.-39+2182_-39+2183dup
NM_000516.4:c.-213_-212dup NP_000507.1:n.-213_-212dup
NM_000516.5:c.-213_-212dup NP_000507.1:n.-213_-212dup
NM_001077488.2:c.-213_-212dup NP_001070956.1:n.-213_-212dup
NM_001077488.3:c.-213_-212dup NP_001070956.1:n.-213_-212dup
NM_001077489.2:c.-213_-212dup NP_001070957.1:n.-213_-212dup
NM_001077489.3:c.-213_-212dup NP_001070957.1:n.-213_-212dup
NM_001077490.1:c.*1-4098_*1-4097dup NP_001070958.1:n.*1-4098_*1-4097dup
NM_001077490.2:c.*1-4098_*1-4097dup NP_001070958.1:n.*1-4098_*1-4097dup
NM_001309840.1:c.-39+2161_-39+2162dup NP_001296769.1:n.-39+2161_-39+2162dup
NM_001309842.1:c.-213_-212dup NP_001296771.1:n.-213_-212dup
NM_001309861.1:c.-38-4098_-38-4097dup NP_001296790.1:n.-38-4098_-38-4097dup
NM_001309883.1:c.*159-4098_*159-4097dup NP_001296812.1:n.*159-4098_*159-4097dup
NM_016592.2:c.*43-4098_*43-4097dup NP_057676.1:n.*43-4098_*43-4097dup
NM_016592.3:c.*43-4098_*43-4097dup NP_057676.1:n.*43-4098_*43-4097dup
NM_080425.2:c.2069-4098_2069-4097dup NP_536350.2:n.2069-4098_2069-4097dup
NM_080425.3:c.2069-4098_2069-4097dup NP_536350.2:n.2069-4098_2069-4097dup
NM_080426.2:c.-213_-212dup NP_536351.1:n.-213_-212dup
NM_080426.3:c.-213_-212dup NP_536351.1:n.-213_-212dup
NR_003259.1:c.-4294967067+2161_-4294967067+2162dup
NR_132273.1:n.406+2696_406+2697dup
XM_017027812.2:c.2069-4098_2069-4097dup XP_016883301.1:n.2069-4098_2069-4097dup
XM_017027813.2:c.2069-4098_2069-4097dup XP_016883302.1:n.2069-4098_2069-4097dup
XM_017027814.2:c.2069-4098_2069-4097dup XP_016883303.1:n.2069-4098_2069-4097dup
XM_017027815.1:c.44-4098_44-4097dup XP_016883304.1:n.44-4098_44-4097dup
XM_017027816.1:c.-517_-516dup XP_016883305.1:n.-517_-516dup
XM_017027817.1:c.-39+2161_-39+2162dup XP_016883306.1:n.-39+2161_-39+2162dup
XM_017027819.1:c.-39+2182_-39+2183dup XP_016883308.1:n.-39+2182_-39+2183dup
XM_017027821.1:c.*43-4098_*43-4097dup XP_016883310.1:n.*43-4098_*43-4097dup
XM_017027822.1:c.*43-4098_*43-4097dup XP_016883311.1:n.*43-4098_*43-4097dup
XM_024451872.1:c.44-4098_44-4097dup XP_024307640.1:n.44-4098_44-4097dup
XM_024451875.1:c.-39+2182_-39+2183dup XP_024307643.1:n.-39+2182_-39+2183dup
XR_002958471.1:n.413_414dup
NM_000516.6:c.-213_-212dup NP_000507.1:n.-213_-212dup
NM_001077488.4:c.-213_-212dup NP_001070956.1:n.-213_-212dup
NM_001077489.4:c.-213_-212dup NP_001070957.1:n.-213_-212dup
NM_001309840.2:c.-39+2161_-39+2162dup NP_001296769.1:n.-39+2161_-39+2162dup
NM_001309842.2:c.-213_-212dup NP_001296771.1:n.-213_-212dup
NM_001309861.2:c.-38-4098_-38-4097dup NP_001296790.1:n.-38-4098_-38-4097dup
NM_016592.4:c.*43-4098_*43-4097dup NP_057676.1:n.*43-4098_*43-4097dup
NM_080426.4:c.-213_-212dup NP_536351.1:n.-213_-212dup
NM_000516.7:c.-213_-212dup MANE Select NP_000507.1:n.-213_-212dup
NM_001077488.5:c.-213_-212dup NP_001070956.1:n.-213_-212dup
NM_001077490.3:c.*1-4098_*1-4097dup NP_001070958.1:n.*1-4098_*1-4097dup
NM_016592.5:c.*43-4098_*43-4097dup MANE Plus Clinical NP_057676.1:n.*43-4098_*43-4097dup
NM_080425.4:c.2069-4098_2069-4097dup MANE Plus Clinical NP_536350.2:n.2069-4098_2069-4097dup