Canonical Allele Identifier: CA2816858916
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891686_58891714del , CM000682.2:g.58891686_58891714del GRCh38
NC_000020.10:g.57466741_57466769del , CM000682.1:g.57466741_57466769del GRCh37
NC_000020.9:g.56900136_56900164del NCBI36
NG_016194.1:g.56947_56975del
NG_016194.2:g.56947_56975del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3926_2069-3898del ENSP00000265621.6:n.2069-3926_2069-3898del
ENST00000419558.7:c.*43-3926_*43-3898del ENSP00000416234.2:n.*43-3926_*43-3898del
ENST00000423897.7:c.2069-3926_2069-3898del ENSP00000412356.2:n.2069-3926_2069-3898del
ENST00000453292.7:c.781-3926_781-3898del ENSP00000392000.2:n.781-3926_781-3898del
ENST00000462499.6:c.-38-3926_-38-3898del ENSP00000499758.2:n.-38-3926_-38-3898del
ENST00000464624.7:c.2160-3926_2160-3898del ENSP00000499607.2:n.2160-3926_2160-3898del
ENST00000464788.6:c.-39+2473_-39+2501del ENSP00000499239.2:n.-39+2473_-39+2501del
ENST00000467227.6:c.-38-3926_-38-3898del ENSP00000499681.2:n.-38-3926_-38-3898del
ENST00000467321.6:c.-39+2640_-39+2668del ENSP00000499523.2:n.-39+2640_-39+2668del
ENST00000469431.6:c.-39+2280_-39+2308del ENSP00000499654.2:n.-39+2280_-39+2308del
ENST00000470512.6:c.-39+2333_-39+2361del ENSP00000499552.2:n.-39+2333_-39+2361del
ENST00000472183.6:c.-38-3926_-38-3898del ENSP00000499673.2:n.-38-3926_-38-3898del
ENST00000478585.6:c.-39+2333_-39+2361del ENSP00000499762.2:n.-39+2333_-39+2361del
ENST00000480232.6:c.-39+2137_-39+2165del ENSP00000499545.2:n.-39+2137_-39+2165del
ENST00000481039.6:c.-39+2778_-39+2806del ENSP00000499767.2:n.-39+2778_-39+2806del
ENST00000482112.6:c.-38-3926_-38-3898del ENSP00000499794.2:n.-38-3926_-38-3898del
ENST00000485673.6:c.-39+2137_-39+2165del ENSP00000499334.2:n.-39+2137_-39+2165del
ENST00000488546.6:c.-39+2868_-39+2896del ENSP00000499332.2:n.-39+2868_-39+2896del
ENST00000604005.6:c.-39+2354_-39+2382del ENSP00000474219.2:n.-39+2354_-39+2382del
ENST00000663479.2:c.-38-3926_-38-3898del ENSP00000499353.2:n.-38-3926_-38-3898del
ENST00000667293.2:c.-39+2782_-39+2810del ENSP00000499293.2:n.-39+2782_-39+2810del
ENST00000676826.2:c.2069-3926_2069-3898del ENSP00000504675.2:n.2069-3926_2069-3898del
ENST00000683015.1:c.909+897_909+925del ENSP00000506815.1:n.909+897_909+925del
ENST00000306090.12:c.44-3926_44-3898del ENSP00000304472.12:n.44-3926_44-3898del
ENST00000349036.8:c.2069-3926_2069-3898del ENSP00000265621.5:n.2069-3926_2069-3898del
ENST00000354359.12:c.-41_-13del ENSP00000346328.7:n.-41_-13del
ENST00000371085.8:c.-41_-13del MANE Select ENSP00000360126.3:n.-41_-13del
ENST00000371100.9:c.2069-3926_2069-3898del MANE Plus Clinical ENSP00000360141.3:n.2069-3926_2069-3898del
ENST00000419558.6:c.*43-3926_*43-3898del ENSP00000416234.2:n.*43-3926_*43-3898del
ENST00000423897.6:c.2069-3926_2069-3898del ENSP00000412356.2:n.2069-3926_2069-3898del
ENST00000453292.6:c.*43-3926_*43-3898del ENSP00000392000.2:n.*43-3926_*43-3898del
ENST00000461152.6:c.909+897_909+925del ENSP00000499274.1:n.909+897_909+925del
ENST00000481768.6:c.2227-3926_2227-3898del ENSP00000499644.2:n.2227-3926_2227-3898del
ENST00000490374.6:n.223-3926_223-3898del
ENST00000657090.1:c.-38-3926_-38-3898del ENSP00000499380.1:n.-38-3926_-38-3898del
ENST00000663479.1:c.-38-3926_-38-3898del ENSP00000499353.1:n.-38-3926_-38-3898del
ENST00000667293.1:c.11-3926_11-3898del ENSP00000499293.1:n.11-3926_11-3898del
ENST00000676826.1:c.2069-3926_2069-3898del ENSP00000504675.1:n.2069-3926_2069-3898del
ENST00000265620.11:c.-41_-13del ENSP00000265620.7:n.-41_-13del
ENST00000313949.11:c.*43-3926_*43-3898del ENSP00000323571.7:n.*43-3926_*43-3898del
ENST00000349036.7:c.188-3926_188-3898del ENSP00000265621.4:n.188-3926_188-3898del
ENST00000354359.11:c.-41_-13del ENSP00000346328.7:n.-41_-13del
ENST00000371075.7:c.*43-3926_*43-3898del MANE Plus Clinical ENSP00000360115.3:n.*43-3926_*43-3898del
ENST00000371085.7:c.-41_-13del ENSP00000360126.3:n.-41_-13del
ENST00000371095.7:c.-41_-13del ENSP00000360136.3:n.-41_-13del
ENST00000371098.6:c.*43-3926_*43-3898del ENSP00000360139.2:n.*43-3926_*43-3898del
ENST00000371100.8:c.2069-3926_2069-3898del ENSP00000360141.3:n.2069-3926_2069-3898del
ENST00000371102.8:c.2069-3926_2069-3898del ENSP00000360143.4:n.2069-3926_2069-3898del
ENST00000419558.5:c.384-3926_384-3898del
ENST00000423897.5:c.157-3926_157-3898del
ENST00000450130.5:c.228-3926_228-3898del
ENST00000453292.5:c.544-3926_544-3898del ENSP00000392000.1:n.544-3926_544-3898del
ENST00000461152.5:n.147+897_147+925del
ENST00000462499.5:n.259-3926_259-3898del
ENST00000464624.6:n.2176_2204del
ENST00000464788.5:n.67+2473_67+2501del
ENST00000464960.5:n.406+2868_406+2896del
ENST00000467227.5:n.123-3926_123-3898del
ENST00000467321.5:n.154+2640_154+2668del
ENST00000468895.5:n.50+2778_50+2806del
ENST00000469431.5:n.256+2280_256+2308del
ENST00000470512.5:n.210+2333_210+2361del
ENST00000472183.5:n.392-3926_392-3898del
ENST00000477931.5:n.254+2333_254+2361del
ENST00000478585.5:n.194+2333_194+2361del
ENST00000480232.5:n.155+2137_155+2165del
ENST00000480975.5:n.183+2333_183+2361del
ENST00000481039.5:n.56+2782_56+2810del
ENST00000481768.5:n.1324-3926_1324-3898del
ENST00000482112.5:n.259-3926_259-3898del
ENST00000484504.5:n.127+2333_127+2361del
ENST00000485673.5:n.426+2137_426+2165del
ENST00000488546.5:n.40+2868_40+2896del
ENST00000490374.5:n.255-3926_255-3898del
ENST00000491348.5:n.534-3926_534-3898del
ENST00000493744.5:n.233-3926_233-3898del
ENST00000604005.5:c.-39+2354_-39+2382del ENSP00000474219.1:n.-39+2354_-39+2382del
NM_000516.4:c.-41_-13del NP_000507.1:n.-41_-13del
NM_000516.5:c.-41_-13del NP_000507.1:n.-41_-13del
NM_001077488.2:c.-41_-13del NP_001070956.1:n.-41_-13del
NM_001077488.3:c.-41_-13del NP_001070956.1:n.-41_-13del
NM_001077489.2:c.-41_-13del NP_001070957.1:n.-41_-13del
NM_001077489.3:c.-41_-13del NP_001070957.1:n.-41_-13del
NM_001077490.1:c.*1-3926_*1-3898del NP_001070958.1:n.*1-3926_*1-3898del
NM_001077490.2:c.*1-3926_*1-3898del NP_001070958.1:n.*1-3926_*1-3898del
NM_001309840.1:c.-39+2333_-39+2361del NP_001296769.1:n.-39+2333_-39+2361del
NM_001309842.1:c.-41_-13del NP_001296771.1:n.-41_-13del
NM_001309861.1:c.-38-3926_-38-3898del NP_001296790.1:n.-38-3926_-38-3898del
NM_001309883.1:c.*159-3926_*159-3898del NP_001296812.1:n.*159-3926_*159-3898del
NM_016592.2:c.*43-3926_*43-3898del NP_057676.1:n.*43-3926_*43-3898del
NM_016592.3:c.*43-3926_*43-3898del NP_057676.1:n.*43-3926_*43-3898del
NM_080425.2:c.2069-3926_2069-3898del NP_536350.2:n.2069-3926_2069-3898del
NM_080425.3:c.2069-3926_2069-3898del NP_536350.2:n.2069-3926_2069-3898del
NM_080426.2:c.-41_-13del NP_536351.1:n.-41_-13del
NM_080426.3:c.-41_-13del NP_536351.1:n.-41_-13del
NR_003259.1:c.-4294967067+2333_-4294967067+2361del
NR_132273.1:n.406+2868_406+2896del
XM_017027812.2:c.2069-3926_2069-3898del XP_016883301.1:n.2069-3926_2069-3898del
XM_017027813.2:c.2069-3926_2069-3898del XP_016883302.1:n.2069-3926_2069-3898del
XM_017027814.2:c.2069-3926_2069-3898del XP_016883303.1:n.2069-3926_2069-3898del
XM_017027815.1:c.44-3926_44-3898del XP_016883304.1:n.44-3926_44-3898del
XM_017027816.1:c.-345_-317del XP_016883305.1:n.-345_-317del
XM_017027817.1:c.-39+2333_-39+2361del XP_016883306.1:n.-39+2333_-39+2361del
XM_017027819.1:c.-39+2354_-39+2382del XP_016883308.1:n.-39+2354_-39+2382del
XM_017027821.1:c.*43-3926_*43-3898del XP_016883310.1:n.*43-3926_*43-3898del
XM_017027822.1:c.*43-3926_*43-3898del XP_016883311.1:n.*43-3926_*43-3898del
XM_024451872.1:c.44-3926_44-3898del XP_024307640.1:n.44-3926_44-3898del
XM_024451875.1:c.-39+2354_-39+2382del XP_024307643.1:n.-39+2354_-39+2382del
XR_002958471.1:n.585_613del
NM_000516.6:c.-41_-13del NP_000507.1:n.-41_-13del
NM_001077488.4:c.-41_-13del NP_001070956.1:n.-41_-13del
NM_001077489.4:c.-41_-13del NP_001070957.1:n.-41_-13del
NM_001309840.2:c.-39+2333_-39+2361del NP_001296769.1:n.-39+2333_-39+2361del
NM_001309842.2:c.-41_-13del NP_001296771.1:n.-41_-13del
NM_001309861.2:c.-38-3926_-38-3898del NP_001296790.1:n.-38-3926_-38-3898del
NM_016592.4:c.*43-3926_*43-3898del NP_057676.1:n.*43-3926_*43-3898del
NM_080426.4:c.-41_-13del NP_536351.1:n.-41_-13del
NM_000516.7:c.-41_-13del MANE Select NP_000507.1:n.-41_-13del
NM_001077488.5:c.-41_-13del NP_001070956.1:n.-41_-13del
NM_001077490.3:c.*1-3926_*1-3898del NP_001070958.1:n.*1-3926_*1-3898del
NM_016592.5:c.*43-3926_*43-3898del MANE Plus Clinical NP_057676.1:n.*43-3926_*43-3898del
NM_080425.4:c.2069-3926_2069-3898del MANE Plus Clinical NP_536350.2:n.2069-3926_2069-3898del