Canonical Allele Identifier: CA2372519720
Gene: GNAS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58892074_58892082delinsCCGTGGCGA , CM000682.2:g.58892074_58892082delinsCCGTGGCGA GRCh38
NC_000020.10:g.57467129_57467137delinsCCGTGGCGA , CM000682.1:g.57467129_57467137delinsCCGTGGCGA GRCh37
NC_000020.9:g.56900524_56900532delinsCCGTGGCGA NCBI36
NG_016194.1:g.57335_57343delinsCCGTGGCGA
NG_016194.2:g.57335_57343delinsCCGTGGCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3538_2069-3530delinsCCGTGGCGA ENSP00000265621.6:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000419558.7:c.*43-3538_*43-3530delinsCCGTGGCGA ENSP00000416234.2:n.*43-3538_*43-3530delinsCCGTGGCGA
ENST00000423897.7:c.2069-3538_2069-3530delinsCCGTGGCGA ENSP00000412356.2:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000453292.7:c.781-3538_781-3530delinsCCGTGGCGA ENSP00000392000.2:n.781-3538_781-3530delinsCCGTGGCGA
ENST00000462499.6:c.-38-3538_-38-3530delinsCCGTGGCGA ENSP00000499758.2:n.-38-3538_-38-3530delinsCCGTGGCGA
ENST00000464624.7:c.2160-3538_2160-3530delinsCCGTGGCGA ENSP00000499607.2:n.2160-3538_2160-3530delinsCCGTGGCGA
ENST00000464788.6:c.-39+2861_-39+2869delinsCCGTGGCGA ENSP00000499239.2:n.-39+2861_-39+2869delinsCCGTGGCGA
ENST00000467227.6:c.-38-3538_-38-3530delinsCCGTGGCGA ENSP00000499681.2:n.-38-3538_-38-3530delinsCCGTGGCGA
ENST00000467321.6:c.-39+3028_-39+3036delinsCCGTGGCGA ENSP00000499523.2:n.-39+3028_-39+3036delinsCCGTGGCGA
ENST00000468895.6:c.139+209_139+217delinsCCGTGGCGA ENSP00000499551.2:n.139+209_139+217delinsCCGTGGCGA
ENST00000469431.6:c.-39+2668_-39+2676delinsCCGTGGCGA ENSP00000499654.2:n.-39+2668_-39+2676delinsCCGTGGCGA
ENST00000470512.6:c.-39+2721_-39+2729delinsCCGTGGCGA ENSP00000499552.2:n.-39+2721_-39+2729delinsCCGTGGCGA
ENST00000472183.6:c.-38-3538_-38-3530delinsCCGTGGCGA ENSP00000499673.2:n.-38-3538_-38-3530delinsCCGTGGCGA
ENST00000476935.6:c.-174_-166delinsCCGTGGCGA ENSP00000499409.2:n.-174_-166delinsCCGTGGCGA
ENST00000478585.6:c.-39+2721_-39+2729delinsCCGTGGCGA ENSP00000499762.2:n.-39+2721_-39+2729delinsCCGTGGCGA
ENST00000480232.6:c.-39+2525_-39+2533delinsCCGTGGCGA ENSP00000499545.2:n.-39+2525_-39+2533delinsCCGTGGCGA
ENST00000481039.6:c.-39+3166_-39+3174delinsCCGTGGCGA ENSP00000499767.2:n.-39+3166_-39+3174delinsCCGTGGCGA
ENST00000482112.6:c.-38-3538_-38-3530delinsCCGTGGCGA ENSP00000499794.2:n.-38-3538_-38-3530delinsCCGTGGCGA
ENST00000485673.6:c.-39+2525_-39+2533delinsCCGTGGCGA ENSP00000499334.2:n.-39+2525_-39+2533delinsCCGTGGCGA
ENST00000488546.6:c.-39+3256_-39+3264delinsCCGTGGCGA ENSP00000499332.2:n.-39+3256_-39+3264delinsCCGTGGCGA
ENST00000488652.6:c.-174_-166delinsCCGTGGCGA ENSP00000499435.2:n.-174_-166delinsCCGTGGCGA
ENST00000604005.6:c.-39+2742_-39+2750delinsCCGTGGCGA ENSP00000474219.2:n.-39+2742_-39+2750delinsCCGTGGCGA
ENST00000663479.2:c.-38-3538_-38-3530delinsCCGTGGCGA ENSP00000499353.2:n.-38-3538_-38-3530delinsCCGTGGCGA
ENST00000667293.2:c.-39+3170_-39+3178delinsCCGTGGCGA ENSP00000499293.2:n.-39+3170_-39+3178delinsCCGTGGCGA
ENST00000676826.2:c.2069-3538_2069-3530delinsCCGTGGCGA ENSP00000504675.2:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000682803.1:c.-366+209_-366+217delinsCCGTGGCGA ENSP00000507069.1:n.-366+209_-366+217delinsCCGTGGCGA
ENST00000683015.1:c.909+1285_909+1293delinsCCGTGGCGA ENSP00000506815.1:n.909+1285_909+1293delinsCCGTGGCGA
ENST00000306090.12:c.44-3538_44-3530delinsCCGTGGCGA ENSP00000304472.12:n.44-3538_44-3530delinsCCGTGGCGA
ENST00000338783.7:c.139+209_139+217delinsCCGTGGCGA ENSP00000345971.7:n.139+209_139+217delinsCCGTGGCGA
ENST00000349036.8:c.2069-3538_2069-3530delinsCCGTGGCGA ENSP00000265621.5:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000354359.12:c.139+209_139+217delinsCCGTGGCGA ENSP00000346328.7:n.139+209_139+217delinsCCGTGGCGA
ENST00000371085.8:c.139+209_139+217delinsCCGTGGCGA MANE Select ENSP00000360126.3:n.139+209_139+217delinsCCGTGGCGA
ENST00000371100.9:c.2069-3538_2069-3530delinsCCGTGGCGA MANE Plus Clinical ENSP00000360141.3:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000419558.6:c.*43-3538_*43-3530delinsCCGTGGCGA ENSP00000416234.2:n.*43-3538_*43-3530delinsCCGTGGCGA
ENST00000423897.6:c.2069-3538_2069-3530delinsCCGTGGCGA ENSP00000412356.2:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000453292.6:c.*43-3538_*43-3530delinsCCGTGGCGA ENSP00000392000.2:n.*43-3538_*43-3530delinsCCGTGGCGA
ENST00000461152.6:c.909+1285_909+1293delinsCCGTGGCGA ENSP00000499274.1:n.909+1285_909+1293delinsCCGTGGCGA
ENST00000481768.6:c.2227-3538_2227-3530delinsCCGTGGCGA ENSP00000499644.2:n.2227-3538_2227-3530delinsCCGTGGCGA
ENST00000490374.6:n.223-3538_223-3530delinsCCGTGGCGA
ENST00000657090.1:c.-38-3538_-38-3530delinsCCGTGGCGA ENSP00000499380.1:n.-38-3538_-38-3530delinsCCGTGGCGA
ENST00000663479.1:c.-38-3538_-38-3530delinsCCGTGGCGA ENSP00000499353.1:n.-38-3538_-38-3530delinsCCGTGGCGA
ENST00000667293.1:c.11-3538_11-3530delinsCCGTGGCGA ENSP00000499293.1:n.11-3538_11-3530delinsCCGTGGCGA
ENST00000676826.1:c.2069-3538_2069-3530delinsCCGTGGCGA ENSP00000504675.1:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000265620.11:c.139+209_139+217delinsCCGTGGCGA ENSP00000265620.7:n.139+209_139+217delinsCCGTGGCGA
ENST00000306090.11:c.93+255_93+263delinsCCGTGGCGA ENSP00000304472.11:n.93+255_93+263delinsCCGTGGCGA
ENST00000313949.11:c.*43-3538_*43-3530delinsCCGTGGCGA ENSP00000323571.7:n.*43-3538_*43-3530delinsCCGTGGCGA
ENST00000338783.6:c.106+209_106+217delinsCCGTGGCGA ENSP00000345971.6:n.106+209_106+217delinsCCGTGGCGA
ENST00000349036.7:c.188-3538_188-3530delinsCCGTGGCGA ENSP00000265621.4:n.188-3538_188-3530delinsCCGTGGCGA
ENST00000354359.11:c.139+209_139+217delinsCCGTGGCGA ENSP00000346328.7:n.139+209_139+217delinsCCGTGGCGA
ENST00000371075.7:c.*43-3538_*43-3530delinsCCGTGGCGA MANE Plus Clinical ENSP00000360115.3:n.*43-3538_*43-3530delinsCCGTGGCGA
ENST00000371081.5:c.139+209_139+217delinsCCGTGGCGA ENSP00000360122.1:n.139+209_139+217delinsCCGTGGCGA
ENST00000371085.7:c.139+209_139+217delinsCCGTGGCGA ENSP00000360126.3:n.139+209_139+217delinsCCGTGGCGA
ENST00000371095.7:c.139+209_139+217delinsCCGTGGCGA ENSP00000360136.3:n.139+209_139+217delinsCCGTGGCGA
ENST00000371098.6:c.*43-3538_*43-3530delinsCCGTGGCGA ENSP00000360139.2:n.*43-3538_*43-3530delinsCCGTGGCGA
ENST00000371100.8:c.2069-3538_2069-3530delinsCCGTGGCGA ENSP00000360141.3:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000371102.8:c.2069-3538_2069-3530delinsCCGTGGCGA ENSP00000360143.4:n.2069-3538_2069-3530delinsCCGTGGCGA
ENST00000419558.5:c.384-3538_384-3530delinsCCGTGGCGA
ENST00000423897.5:c.157-3538_157-3530delinsCCGTGGCGA
ENST00000450130.5:c.228-3538_228-3530delinsCCGTGGCGA
ENST00000453292.5:c.544-3538_544-3530delinsCCGTGGCGA ENSP00000392000.1:n.544-3538_544-3530delinsCCGTGGCGA
ENST00000461152.5:n.147+1285_147+1293delinsCCGTGGCGA
ENST00000462499.5:n.259-3538_259-3530delinsCCGTGGCGA
ENST00000464624.6:n.2355+209_2355+217delinsCCGTGGCGA
ENST00000464788.5:n.67+2861_67+2869delinsCCGTGGCGA
ENST00000464960.5:n.406+3256_406+3264delinsCCGTGGCGA
ENST00000467227.5:n.123-3538_123-3530delinsCCGTGGCGA
ENST00000467321.5:n.154+3028_154+3036delinsCCGTGGCGA
ENST00000468895.5:n.50+3166_50+3174delinsCCGTGGCGA
ENST00000469431.5:n.256+2668_256+2676delinsCCGTGGCGA
ENST00000470512.5:n.210+2721_210+2729delinsCCGTGGCGA
ENST00000472183.5:n.392-3538_392-3530delinsCCGTGGCGA
ENST00000476935.5:n.38_46delinsCCGTGGCGA
ENST00000477931.5:n.254+2721_254+2729delinsCCGTGGCGA
ENST00000478585.5:n.194+2721_194+2729delinsCCGTGGCGA
ENST00000480232.5:n.155+2525_155+2533delinsCCGTGGCGA
ENST00000480975.5:n.183+2721_183+2729delinsCCGTGGCGA
ENST00000481039.5:n.56+3170_56+3178delinsCCGTGGCGA
ENST00000481768.5:n.1324-3538_1324-3530delinsCCGTGGCGA
ENST00000482112.5:n.259-3538_259-3530delinsCCGTGGCGA
ENST00000484504.5:n.127+2721_127+2729delinsCCGTGGCGA
ENST00000485673.5:n.426+2525_426+2533delinsCCGTGGCGA
ENST00000488546.5:n.40+3256_40+3264delinsCCGTGGCGA
ENST00000488652.5:n.94_102delinsCCGTGGCGA
ENST00000490374.5:n.255-3538_255-3530delinsCCGTGGCGA
ENST00000491348.5:n.534-3538_534-3530delinsCCGTGGCGA
ENST00000493744.5:n.233-3538_233-3530delinsCCGTGGCGA
ENST00000604005.5:c.-39+2742_-39+2750delinsCCGTGGCGA ENSP00000474219.1:n.-39+2742_-39+2750delinsCCGTGGCGA
NM_000516.4:c.139+209_139+217delinsCCGTGGCGA NP_000507.1:n.139+209_139+217delinsCCGTGGCGA
NM_000516.5:c.139+209_139+217delinsCCGTGGCGA NP_000507.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077488.2:c.139+209_139+217delinsCCGTGGCGA NP_001070956.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077488.3:c.139+209_139+217delinsCCGTGGCGA NP_001070956.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077489.2:c.139+209_139+217delinsCCGTGGCGA NP_001070957.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077489.3:c.139+209_139+217delinsCCGTGGCGA NP_001070957.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077490.1:c.*1-3538_*1-3530delinsCCGTGGCGA NP_001070958.1:n.*1-3538_*1-3530delinsCCGTGGCGA
NM_001077490.2:c.*1-3538_*1-3530delinsCCGTGGCGA NP_001070958.1:n.*1-3538_*1-3530delinsCCGTGGCGA
NM_001309840.1:c.-39+2721_-39+2729delinsCCGTGGCGA NP_001296769.1:n.-39+2721_-39+2729delinsCCGTGGCGA
NM_001309842.1:c.139+209_139+217delinsCCGTGGCGA NP_001296771.1:n.139+209_139+217delinsCCGTGGCGA
NM_001309861.1:c.-38-3538_-38-3530delinsCCGTGGCGA NP_001296790.1:n.-38-3538_-38-3530delinsCCGTGGCGA
NM_001309883.1:c.*159-3538_*159-3530delinsCCGTGGCGA NP_001296812.1:n.*159-3538_*159-3530delinsCCGTGGCGA
NM_016592.2:c.*43-3538_*43-3530delinsCCGTGGCGA NP_057676.1:n.*43-3538_*43-3530delinsCCGTGGCGA
NM_016592.3:c.*43-3538_*43-3530delinsCCGTGGCGA NP_057676.1:n.*43-3538_*43-3530delinsCCGTGGCGA
NM_080425.2:c.2069-3538_2069-3530delinsCCGTGGCGA NP_536350.2:n.2069-3538_2069-3530delinsCCGTGGCGA
NM_080425.3:c.2069-3538_2069-3530delinsCCGTGGCGA NP_536350.2:n.2069-3538_2069-3530delinsCCGTGGCGA
NM_080426.2:c.139+209_139+217delinsCCGTGGCGA NP_536351.1:n.139+209_139+217delinsCCGTGGCGA
NM_080426.3:c.139+209_139+217delinsCCGTGGCGA NP_536351.1:n.139+209_139+217delinsCCGTGGCGA
NR_003259.1:c.-4294967067+2721_-4294967067+2729delinsCCGTGGCGA
NR_132273.1:n.406+3256_406+3264delinsCCGTGGCGA
XM_017027812.2:c.2069-3538_2069-3530delinsCCGTGGCGA XP_016883301.1:n.2069-3538_2069-3530delinsCCGTGGCGA
XM_017027813.2:c.2069-3538_2069-3530delinsCCGTGGCGA XP_016883302.1:n.2069-3538_2069-3530delinsCCGTGGCGA
XM_017027814.2:c.2069-3538_2069-3530delinsCCGTGGCGA XP_016883303.1:n.2069-3538_2069-3530delinsCCGTGGCGA
XM_017027815.1:c.44-3538_44-3530delinsCCGTGGCGA XP_016883304.1:n.44-3538_44-3530delinsCCGTGGCGA
XM_017027816.1:c.-166+209_-166+217delinsCCGTGGCGA XP_016883305.1:n.-166+209_-166+217delinsCCGTGGCGA
XM_017027817.1:c.-39+2721_-39+2729delinsCCGTGGCGA XP_016883306.1:n.-39+2721_-39+2729delinsCCGTGGCGA
XM_017027818.2:c.-174_-166delinsCCGTGGCGA XP_016883307.1:n.-174_-166delinsCCGTGGCGA
XM_017027819.1:c.-39+2742_-39+2750delinsCCGTGGCGA XP_016883308.1:n.-39+2742_-39+2750delinsCCGTGGCGA
XM_017027821.1:c.*43-3538_*43-3530delinsCCGTGGCGA XP_016883310.1:n.*43-3538_*43-3530delinsCCGTGGCGA
XM_017027822.1:c.*43-3538_*43-3530delinsCCGTGGCGA XP_016883311.1:n.*43-3538_*43-3530delinsCCGTGGCGA
XM_024451872.1:c.44-3538_44-3530delinsCCGTGGCGA XP_024307640.1:n.44-3538_44-3530delinsCCGTGGCGA
XM_024451875.1:c.-39+2742_-39+2750delinsCCGTGGCGA XP_024307643.1:n.-39+2742_-39+2750delinsCCGTGGCGA
XR_002958471.1:n.764+209_764+217delinsCCGTGGCGA
NM_000516.6:c.139+209_139+217delinsCCGTGGCGA NP_000507.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077488.4:c.139+209_139+217delinsCCGTGGCGA NP_001070956.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077489.4:c.139+209_139+217delinsCCGTGGCGA NP_001070957.1:n.139+209_139+217delinsCCGTGGCGA
NM_001309840.2:c.-39+2721_-39+2729delinsCCGTGGCGA NP_001296769.1:n.-39+2721_-39+2729delinsCCGTGGCGA
NM_001309842.2:c.139+209_139+217delinsCCGTGGCGA NP_001296771.1:n.139+209_139+217delinsCCGTGGCGA
NM_001309861.2:c.-38-3538_-38-3530delinsCCGTGGCGA NP_001296790.1:n.-38-3538_-38-3530delinsCCGTGGCGA
NM_016592.4:c.*43-3538_*43-3530delinsCCGTGGCGA NP_057676.1:n.*43-3538_*43-3530delinsCCGTGGCGA
NM_080426.4:c.139+209_139+217delinsCCGTGGCGA NP_536351.1:n.139+209_139+217delinsCCGTGGCGA
NM_000516.7:c.139+209_139+217delinsCCGTGGCGA MANE Select NP_000507.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077488.5:c.139+209_139+217delinsCCGTGGCGA NP_001070956.1:n.139+209_139+217delinsCCGTGGCGA
NM_001077490.3:c.*1-3538_*1-3530delinsCCGTGGCGA NP_001070958.1:n.*1-3538_*1-3530delinsCCGTGGCGA
NM_016592.5:c.*43-3538_*43-3530delinsCCGTGGCGA MANE Plus Clinical NP_057676.1:n.*43-3538_*43-3530delinsCCGTGGCGA
NM_080425.4:c.2069-3538_2069-3530delinsCCGTGGCGA MANE Plus Clinical NP_536350.2:n.2069-3538_2069-3530delinsCCGTGGCGA
Search 100 bp 5'
Search 100 bp 3'