Canonical Allele Identifier: CA2577436728
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58891916-GCCCCGCAGGCCGCGCGCGCCGAGCCCGCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891923_58891951del , CM000682.2:g.58891923_58891951del GRCh38
NC_000020.10:g.57466978_57467006del , CM000682.1:g.57466978_57467006del GRCh37
NC_000020.9:g.56900373_56900401del NCBI36
NG_016194.1:g.57184_57212del
NG_016194.2:g.57184_57212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3689_2069-3661del ENSP00000265621.6:n.2069-3689_2069-3661del
ENST00000419558.7:c.*43-3689_*43-3661del ENSP00000416234.2:n.*43-3689_*43-3661del
ENST00000423897.7:c.2069-3689_2069-3661del ENSP00000412356.2:n.2069-3689_2069-3661del
ENST00000453292.7:c.781-3689_781-3661del ENSP00000392000.2:n.781-3689_781-3661del
ENST00000462499.6:c.-38-3689_-38-3661del ENSP00000499758.2:n.-38-3689_-38-3661del
ENST00000464624.7:c.2160-3689_2160-3661del ENSP00000499607.2:n.2160-3689_2160-3661del
ENST00000464788.6:c.-39+2710_-39+2738del ENSP00000499239.2:n.-39+2710_-39+2738del
ENST00000467227.6:c.-38-3689_-38-3661del ENSP00000499681.2:n.-38-3689_-38-3661del
ENST00000467321.6:c.-39+2877_-39+2905del ENSP00000499523.2:n.-39+2877_-39+2905del
ENST00000468895.6:c.139+58_139+86del ENSP00000499551.2:n.139+58_139+86del
ENST00000469431.6:c.-39+2517_-39+2545del ENSP00000499654.2:n.-39+2517_-39+2545del
ENST00000470512.6:c.-39+2570_-39+2598del ENSP00000499552.2:n.-39+2570_-39+2598del
ENST00000472183.6:c.-38-3689_-38-3661del ENSP00000499673.2:n.-38-3689_-38-3661del
ENST00000478585.6:c.-39+2570_-39+2598del ENSP00000499762.2:n.-39+2570_-39+2598del
ENST00000480232.6:c.-39+2374_-39+2402del ENSP00000499545.2:n.-39+2374_-39+2402del
ENST00000481039.6:c.-39+3015_-39+3043del ENSP00000499767.2:n.-39+3015_-39+3043del
ENST00000482112.6:c.-38-3689_-38-3661del ENSP00000499794.2:n.-38-3689_-38-3661del
ENST00000485673.6:c.-39+2374_-39+2402del ENSP00000499334.2:n.-39+2374_-39+2402del
ENST00000488546.6:c.-39+3105_-39+3133del ENSP00000499332.2:n.-39+3105_-39+3133del
ENST00000604005.6:c.-39+2591_-39+2619del ENSP00000474219.2:n.-39+2591_-39+2619del
ENST00000663479.2:c.-38-3689_-38-3661del ENSP00000499353.2:n.-38-3689_-38-3661del
ENST00000667293.2:c.-39+3019_-39+3047del ENSP00000499293.2:n.-39+3019_-39+3047del
ENST00000676826.2:c.2069-3689_2069-3661del ENSP00000504675.2:n.2069-3689_2069-3661del
ENST00000682803.1:c.-366+58_-366+86del ENSP00000507069.1:n.-366+58_-366+86del
ENST00000683015.1:c.909+1134_909+1162del ENSP00000506815.1:n.909+1134_909+1162del
ENST00000306090.12:c.44-3689_44-3661del ENSP00000304472.12:n.44-3689_44-3661del
ENST00000338783.7:c.139+58_139+86del ENSP00000345971.7:n.139+58_139+86del
ENST00000349036.8:c.2069-3689_2069-3661del ENSP00000265621.5:n.2069-3689_2069-3661del
ENST00000354359.12:c.139+58_139+86del ENSP00000346328.7:n.139+58_139+86del
ENST00000371085.8:c.139+58_139+86del MANE Select ENSP00000360126.3:n.139+58_139+86del
ENST00000371100.9:c.2069-3689_2069-3661del MANE Plus Clinical ENSP00000360141.3:n.2069-3689_2069-3661del
ENST00000419558.6:c.*43-3689_*43-3661del ENSP00000416234.2:n.*43-3689_*43-3661del
ENST00000423897.6:c.2069-3689_2069-3661del ENSP00000412356.2:n.2069-3689_2069-3661del
ENST00000453292.6:c.*43-3689_*43-3661del ENSP00000392000.2:n.*43-3689_*43-3661del
ENST00000461152.6:c.909+1134_909+1162del ENSP00000499274.1:n.909+1134_909+1162del
ENST00000481768.6:c.2227-3689_2227-3661del ENSP00000499644.2:n.2227-3689_2227-3661del
ENST00000490374.6:n.223-3689_223-3661del
ENST00000657090.1:c.-38-3689_-38-3661del ENSP00000499380.1:n.-38-3689_-38-3661del
ENST00000663479.1:c.-38-3689_-38-3661del ENSP00000499353.1:n.-38-3689_-38-3661del
ENST00000667293.1:c.11-3689_11-3661del ENSP00000499293.1:n.11-3689_11-3661del
ENST00000676826.1:c.2069-3689_2069-3661del ENSP00000504675.1:n.2069-3689_2069-3661del
ENST00000265620.11:c.139+58_139+86del ENSP00000265620.7:n.139+58_139+86del
ENST00000306090.11:c.93+104_93+132del ENSP00000304472.11:n.93+104_93+132del
ENST00000313949.11:c.*43-3689_*43-3661del ENSP00000323571.7:n.*43-3689_*43-3661del
ENST00000338783.6:c.106+58_106+86del ENSP00000345971.6:n.106+58_106+86del
ENST00000349036.7:c.188-3689_188-3661del ENSP00000265621.4:n.188-3689_188-3661del
ENST00000354359.11:c.139+58_139+86del ENSP00000346328.7:n.139+58_139+86del
ENST00000371075.7:c.*43-3689_*43-3661del MANE Plus Clinical ENSP00000360115.3:n.*43-3689_*43-3661del
ENST00000371081.5:c.139+58_139+86del ENSP00000360122.1:n.139+58_139+86del
ENST00000371085.7:c.139+58_139+86del ENSP00000360126.3:n.139+58_139+86del
ENST00000371095.7:c.139+58_139+86del ENSP00000360136.3:n.139+58_139+86del
ENST00000371098.6:c.*43-3689_*43-3661del ENSP00000360139.2:n.*43-3689_*43-3661del
ENST00000371100.8:c.2069-3689_2069-3661del ENSP00000360141.3:n.2069-3689_2069-3661del
ENST00000371102.8:c.2069-3689_2069-3661del ENSP00000360143.4:n.2069-3689_2069-3661del
ENST00000419558.5:c.384-3689_384-3661del
ENST00000423897.5:c.157-3689_157-3661del
ENST00000450130.5:c.228-3689_228-3661del
ENST00000453292.5:c.544-3689_544-3661del ENSP00000392000.1:n.544-3689_544-3661del
ENST00000461152.5:n.147+1134_147+1162del
ENST00000462499.5:n.259-3689_259-3661del
ENST00000464624.6:n.2355+58_2355+86del
ENST00000464788.5:n.67+2710_67+2738del
ENST00000464960.5:n.406+3105_406+3133del
ENST00000467227.5:n.123-3689_123-3661del
ENST00000467321.5:n.154+2877_154+2905del
ENST00000468895.5:n.50+3015_50+3043del
ENST00000469431.5:n.256+2517_256+2545del
ENST00000470512.5:n.210+2570_210+2598del
ENST00000472183.5:n.392-3689_392-3661del
ENST00000477931.5:n.254+2570_254+2598del
ENST00000478585.5:n.194+2570_194+2598del
ENST00000480232.5:n.155+2374_155+2402del
ENST00000480975.5:n.183+2570_183+2598del
ENST00000481039.5:n.56+3019_56+3047del
ENST00000481768.5:n.1324-3689_1324-3661del
ENST00000482112.5:n.259-3689_259-3661del
ENST00000484504.5:n.127+2570_127+2598del
ENST00000485673.5:n.426+2374_426+2402del
ENST00000488546.5:n.40+3105_40+3133del
ENST00000490374.5:n.255-3689_255-3661del
ENST00000491348.5:n.534-3689_534-3661del
ENST00000493744.5:n.233-3689_233-3661del
ENST00000604005.5:c.-39+2591_-39+2619del ENSP00000474219.1:n.-39+2591_-39+2619del
NM_000516.4:c.139+58_139+86del NP_000507.1:n.139+58_139+86del
NM_000516.5:c.139+58_139+86del NP_000507.1:n.139+58_139+86del
NM_001077488.2:c.139+58_139+86del NP_001070956.1:n.139+58_139+86del
NM_001077488.3:c.139+58_139+86del NP_001070956.1:n.139+58_139+86del
NM_001077489.2:c.139+58_139+86del NP_001070957.1:n.139+58_139+86del
NM_001077489.3:c.139+58_139+86del NP_001070957.1:n.139+58_139+86del
NM_001077490.1:c.*1-3689_*1-3661del NP_001070958.1:n.*1-3689_*1-3661del
NM_001077490.2:c.*1-3689_*1-3661del NP_001070958.1:n.*1-3689_*1-3661del
NM_001309840.1:c.-39+2570_-39+2598del NP_001296769.1:n.-39+2570_-39+2598del
NM_001309842.1:c.139+58_139+86del NP_001296771.1:n.139+58_139+86del
NM_001309861.1:c.-38-3689_-38-3661del NP_001296790.1:n.-38-3689_-38-3661del
NM_001309883.1:c.*159-3689_*159-3661del NP_001296812.1:n.*159-3689_*159-3661del
NM_016592.2:c.*43-3689_*43-3661del NP_057676.1:n.*43-3689_*43-3661del
NM_016592.3:c.*43-3689_*43-3661del NP_057676.1:n.*43-3689_*43-3661del
NM_080425.2:c.2069-3689_2069-3661del NP_536350.2:n.2069-3689_2069-3661del
NM_080425.3:c.2069-3689_2069-3661del NP_536350.2:n.2069-3689_2069-3661del
NM_080426.2:c.139+58_139+86del NP_536351.1:n.139+58_139+86del
NM_080426.3:c.139+58_139+86del NP_536351.1:n.139+58_139+86del
NR_003259.1:c.-4294967067+2570_-4294967067+2598del
NR_132273.1:n.406+3105_406+3133del
XM_017027812.2:c.2069-3689_2069-3661del XP_016883301.1:n.2069-3689_2069-3661del
XM_017027813.2:c.2069-3689_2069-3661del XP_016883302.1:n.2069-3689_2069-3661del
XM_017027814.2:c.2069-3689_2069-3661del XP_016883303.1:n.2069-3689_2069-3661del
XM_017027815.1:c.44-3689_44-3661del XP_016883304.1:n.44-3689_44-3661del
XM_017027816.1:c.-166+58_-166+86del XP_016883305.1:n.-166+58_-166+86del
XM_017027817.1:c.-39+2570_-39+2598del XP_016883306.1:n.-39+2570_-39+2598del
XM_017027819.1:c.-39+2591_-39+2619del XP_016883308.1:n.-39+2591_-39+2619del
XM_017027821.1:c.*43-3689_*43-3661del XP_016883310.1:n.*43-3689_*43-3661del
XM_017027822.1:c.*43-3689_*43-3661del XP_016883311.1:n.*43-3689_*43-3661del
XM_024451872.1:c.44-3689_44-3661del XP_024307640.1:n.44-3689_44-3661del
XM_024451875.1:c.-39+2591_-39+2619del XP_024307643.1:n.-39+2591_-39+2619del
XR_002958471.1:n.764+58_764+86del
NM_000516.6:c.139+58_139+86del NP_000507.1:n.139+58_139+86del
NM_001077488.4:c.139+58_139+86del NP_001070956.1:n.139+58_139+86del
NM_001077489.4:c.139+58_139+86del NP_001070957.1:n.139+58_139+86del
NM_001309840.2:c.-39+2570_-39+2598del NP_001296769.1:n.-39+2570_-39+2598del
NM_001309842.2:c.139+58_139+86del NP_001296771.1:n.139+58_139+86del
NM_001309861.2:c.-38-3689_-38-3661del NP_001296790.1:n.-38-3689_-38-3661del
NM_016592.4:c.*43-3689_*43-3661del NP_057676.1:n.*43-3689_*43-3661del
NM_080426.4:c.139+58_139+86del NP_536351.1:n.139+58_139+86del
NM_000516.7:c.139+58_139+86del MANE Select NP_000507.1:n.139+58_139+86del
NM_001077488.5:c.139+58_139+86del NP_001070956.1:n.139+58_139+86del
NM_001077490.3:c.*1-3689_*1-3661del NP_001070958.1:n.*1-3689_*1-3661del
NM_016592.5:c.*43-3689_*43-3661del MANE Plus Clinical NP_057676.1:n.*43-3689_*43-3661del
NM_080425.4:c.2069-3689_2069-3661del MANE Plus Clinical NP_536350.2:n.2069-3689_2069-3661del
Search 100 bp 5'
Search 100 bp 3'