Canonical Allele Identifier: CA2595220971
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v3: 20-58891883-G-GCCGTGGCGA
gnomAD v4: 20-58891883-G-GCCGTGGCGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891884_58891885insCGTGGCGAC , CM000682.2:g.58891884_58891885insCGTGGCGAC GRCh38
NC_000020.10:g.57466939_57466940insCGTGGCGAC , CM000682.1:g.57466939_57466940insCGTGGCGAC GRCh37
NC_000020.9:g.56900334_56900335insCGTGGCGAC NCBI36
NG_016194.1:g.57145_57146insCGTGGCGAC
NG_016194.2:g.57145_57146insCGTGGCGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3728_2069-3727insCGTGGCGAC ENSP00000265621.6:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000419558.7:c.*43-3728_*43-3727insCGTGGCGAC ENSP00000416234.2:n.*43-3728_*43-3727insCGTGGCGAC
ENST00000423897.7:c.2069-3728_2069-3727insCGTGGCGAC ENSP00000412356.2:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000453292.7:c.781-3728_781-3727insCGTGGCGAC ENSP00000392000.2:n.781-3728_781-3727insCGTGGCGAC
ENST00000462499.6:c.-38-3728_-38-3727insCGTGGCGAC ENSP00000499758.2:n.-38-3728_-38-3727insCGTGGCGAC
ENST00000464624.7:c.2160-3728_2160-3727insCGTGGCGAC ENSP00000499607.2:n.2160-3728_2160-3727insCGTGGCGAC
ENST00000464788.6:c.-39+2671_-39+2672insCGTGGCGAC ENSP00000499239.2:n.-39+2671_-39+2672insCGTGGCGAC
ENST00000467227.6:c.-38-3728_-38-3727insCGTGGCGAC ENSP00000499681.2:n.-38-3728_-38-3727insCGTGGCGAC
ENST00000467321.6:c.-39+2838_-39+2839insCGTGGCGAC ENSP00000499523.2:n.-39+2838_-39+2839insCGTGGCGAC
ENST00000468895.6:c.139+19_139+20insCGTGGCGAC ENSP00000499551.2:n.139+19_139+20insCGTGGCGAC
ENST00000469431.6:c.-39+2478_-39+2479insCGTGGCGAC ENSP00000499654.2:n.-39+2478_-39+2479insCGTGGCGAC
ENST00000470512.6:c.-39+2531_-39+2532insCGTGGCGAC ENSP00000499552.2:n.-39+2531_-39+2532insCGTGGCGAC
ENST00000472183.6:c.-38-3728_-38-3727insCGTGGCGAC ENSP00000499673.2:n.-38-3728_-38-3727insCGTGGCGAC
ENST00000478585.6:c.-39+2531_-39+2532insCGTGGCGAC ENSP00000499762.2:n.-39+2531_-39+2532insCGTGGCGAC
ENST00000480232.6:c.-39+2335_-39+2336insCGTGGCGAC ENSP00000499545.2:n.-39+2335_-39+2336insCGTGGCGAC
ENST00000481039.6:c.-39+2976_-39+2977insCGTGGCGAC ENSP00000499767.2:n.-39+2976_-39+2977insCGTGGCGAC
ENST00000482112.6:c.-38-3728_-38-3727insCGTGGCGAC ENSP00000499794.2:n.-38-3728_-38-3727insCGTGGCGAC
ENST00000485673.6:c.-39+2335_-39+2336insCGTGGCGAC ENSP00000499334.2:n.-39+2335_-39+2336insCGTGGCGAC
ENST00000488546.6:c.-39+3066_-39+3067insCGTGGCGAC ENSP00000499332.2:n.-39+3066_-39+3067insCGTGGCGAC
ENST00000604005.6:c.-39+2552_-39+2553insCGTGGCGAC ENSP00000474219.2:n.-39+2552_-39+2553insCGTGGCGAC
ENST00000663479.2:c.-38-3728_-38-3727insCGTGGCGAC ENSP00000499353.2:n.-38-3728_-38-3727insCGTGGCGAC
ENST00000667293.2:c.-39+2980_-39+2981insCGTGGCGAC ENSP00000499293.2:n.-39+2980_-39+2981insCGTGGCGAC
ENST00000676826.2:c.2069-3728_2069-3727insCGTGGCGAC ENSP00000504675.2:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000682803.1:c.-366+19_-366+20insCGTGGCGAC ENSP00000507069.1:n.-366+19_-366+20insCGTGGCGAC
ENST00000683015.1:c.909+1095_909+1096insCGTGGCGAC ENSP00000506815.1:n.909+1095_909+1096insCGTGGCGAC
ENST00000306090.12:c.44-3728_44-3727insCGTGGCGAC ENSP00000304472.12:n.44-3728_44-3727insCGTGGCGAC
ENST00000338783.7:c.139+19_139+20insCGTGGCGAC ENSP00000345971.7:n.139+19_139+20insCGTGGCGAC
ENST00000349036.8:c.2069-3728_2069-3727insCGTGGCGAC ENSP00000265621.5:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000354359.12:c.139+19_139+20insCGTGGCGAC ENSP00000346328.7:n.139+19_139+20insCGTGGCGAC
ENST00000371085.8:c.139+19_139+20insCGTGGCGAC MANE Select ENSP00000360126.3:n.139+19_139+20insCGTGGCGAC
ENST00000371100.9:c.2069-3728_2069-3727insCGTGGCGAC MANE Plus Clinical ENSP00000360141.3:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000419558.6:c.*43-3728_*43-3727insCGTGGCGAC ENSP00000416234.2:n.*43-3728_*43-3727insCGTGGCGAC
ENST00000423897.6:c.2069-3728_2069-3727insCGTGGCGAC ENSP00000412356.2:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000453292.6:c.*43-3728_*43-3727insCGTGGCGAC ENSP00000392000.2:n.*43-3728_*43-3727insCGTGGCGAC
ENST00000461152.6:c.909+1095_909+1096insCGTGGCGAC ENSP00000499274.1:n.909+1095_909+1096insCGTGGCGAC
ENST00000481768.6:c.2227-3728_2227-3727insCGTGGCGAC ENSP00000499644.2:n.2227-3728_2227-3727insCGTGGCGAC
ENST00000490374.6:n.223-3728_223-3727insCGTGGCGAC
ENST00000657090.1:c.-38-3728_-38-3727insCGTGGCGAC ENSP00000499380.1:n.-38-3728_-38-3727insCGTGGCGAC
ENST00000663479.1:c.-38-3728_-38-3727insCGTGGCGAC ENSP00000499353.1:n.-38-3728_-38-3727insCGTGGCGAC
ENST00000667293.1:c.11-3728_11-3727insCGTGGCGAC ENSP00000499293.1:n.11-3728_11-3727insCGTGGCGAC
ENST00000676826.1:c.2069-3728_2069-3727insCGTGGCGAC ENSP00000504675.1:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000265620.11:c.139+19_139+20insCGTGGCGAC ENSP00000265620.7:n.139+19_139+20insCGTGGCGAC
ENST00000306090.11:c.93+65_93+66insCGTGGCGAC ENSP00000304472.11:n.93+65_93+66insCGTGGCGAC
ENST00000313949.11:c.*43-3728_*43-3727insCGTGGCGAC ENSP00000323571.7:n.*43-3728_*43-3727insCGTGGCGAC
ENST00000338783.6:c.106+19_106+20insCGTGGCGAC ENSP00000345971.6:n.106+19_106+20insCGTGGCGAC
ENST00000349036.7:c.188-3728_188-3727insCGTGGCGAC ENSP00000265621.4:n.188-3728_188-3727insCGTGGCGAC
ENST00000354359.11:c.139+19_139+20insCGTGGCGAC ENSP00000346328.7:n.139+19_139+20insCGTGGCGAC
ENST00000371075.7:c.*43-3728_*43-3727insCGTGGCGAC MANE Plus Clinical ENSP00000360115.3:n.*43-3728_*43-3727insCGTGGCGAC
ENST00000371081.5:c.139+19_139+20insCGTGGCGAC ENSP00000360122.1:n.139+19_139+20insCGTGGCGAC
ENST00000371085.7:c.139+19_139+20insCGTGGCGAC ENSP00000360126.3:n.139+19_139+20insCGTGGCGAC
ENST00000371095.7:c.139+19_139+20insCGTGGCGAC ENSP00000360136.3:n.139+19_139+20insCGTGGCGAC
ENST00000371098.6:c.*43-3728_*43-3727insCGTGGCGAC ENSP00000360139.2:n.*43-3728_*43-3727insCGTGGCGAC
ENST00000371100.8:c.2069-3728_2069-3727insCGTGGCGAC ENSP00000360141.3:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000371102.8:c.2069-3728_2069-3727insCGTGGCGAC ENSP00000360143.4:n.2069-3728_2069-3727insCGTGGCGAC
ENST00000419558.5:c.384-3728_384-3727insCGTGGCGAC
ENST00000423897.5:c.157-3728_157-3727insCGTGGCGAC
ENST00000450130.5:c.228-3728_228-3727insCGTGGCGAC
ENST00000453292.5:c.544-3728_544-3727insCGTGGCGAC ENSP00000392000.1:n.544-3728_544-3727insCGTGGCGAC
ENST00000461152.5:n.147+1095_147+1096insCGTGGCGAC
ENST00000462499.5:n.259-3728_259-3727insCGTGGCGAC
ENST00000464624.6:n.2355+19_2355+20insCGTGGCGAC
ENST00000464788.5:n.67+2671_67+2672insCGTGGCGAC
ENST00000464960.5:n.406+3066_406+3067insCGTGGCGAC
ENST00000467227.5:n.123-3728_123-3727insCGTGGCGAC
ENST00000467321.5:n.154+2838_154+2839insCGTGGCGAC
ENST00000468895.5:n.50+2976_50+2977insCGTGGCGAC
ENST00000469431.5:n.256+2478_256+2479insCGTGGCGAC
ENST00000470512.5:n.210+2531_210+2532insCGTGGCGAC
ENST00000472183.5:n.392-3728_392-3727insCGTGGCGAC
ENST00000477931.5:n.254+2531_254+2532insCGTGGCGAC
ENST00000478585.5:n.194+2531_194+2532insCGTGGCGAC
ENST00000480232.5:n.155+2335_155+2336insCGTGGCGAC
ENST00000480975.5:n.183+2531_183+2532insCGTGGCGAC
ENST00000481039.5:n.56+2980_56+2981insCGTGGCGAC
ENST00000481768.5:n.1324-3728_1324-3727insCGTGGCGAC
ENST00000482112.5:n.259-3728_259-3727insCGTGGCGAC
ENST00000484504.5:n.127+2531_127+2532insCGTGGCGAC
ENST00000485673.5:n.426+2335_426+2336insCGTGGCGAC
ENST00000488546.5:n.40+3066_40+3067insCGTGGCGAC
ENST00000490374.5:n.255-3728_255-3727insCGTGGCGAC
ENST00000491348.5:n.534-3728_534-3727insCGTGGCGAC
ENST00000493744.5:n.233-3728_233-3727insCGTGGCGAC
ENST00000604005.5:c.-39+2552_-39+2553insCGTGGCGAC ENSP00000474219.1:n.-39+2552_-39+2553insCGTGGCGAC
NM_000516.4:c.139+19_139+20insCGTGGCGAC NP_000507.1:n.139+19_139+20insCGTGGCGAC
NM_000516.5:c.139+19_139+20insCGTGGCGAC NP_000507.1:n.139+19_139+20insCGTGGCGAC
NM_001077488.2:c.139+19_139+20insCGTGGCGAC NP_001070956.1:n.139+19_139+20insCGTGGCGAC
NM_001077488.3:c.139+19_139+20insCGTGGCGAC NP_001070956.1:n.139+19_139+20insCGTGGCGAC
NM_001077489.2:c.139+19_139+20insCGTGGCGAC NP_001070957.1:n.139+19_139+20insCGTGGCGAC
NM_001077489.3:c.139+19_139+20insCGTGGCGAC NP_001070957.1:n.139+19_139+20insCGTGGCGAC
NM_001077490.1:c.*1-3728_*1-3727insCGTGGCGAC NP_001070958.1:n.*1-3728_*1-3727insCGTGGCGAC
NM_001077490.2:c.*1-3728_*1-3727insCGTGGCGAC NP_001070958.1:n.*1-3728_*1-3727insCGTGGCGAC
NM_001309840.1:c.-39+2531_-39+2532insCGTGGCGAC NP_001296769.1:n.-39+2531_-39+2532insCGTGGCGAC
NM_001309842.1:c.139+19_139+20insCGTGGCGAC NP_001296771.1:n.139+19_139+20insCGTGGCGAC
NM_001309861.1:c.-38-3728_-38-3727insCGTGGCGAC NP_001296790.1:n.-38-3728_-38-3727insCGTGGCGAC
NM_001309883.1:c.*159-3728_*159-3727insCGTGGCGAC NP_001296812.1:n.*159-3728_*159-3727insCGTGGCGAC
NM_016592.2:c.*43-3728_*43-3727insCGTGGCGAC NP_057676.1:n.*43-3728_*43-3727insCGTGGCGAC
NM_016592.3:c.*43-3728_*43-3727insCGTGGCGAC NP_057676.1:n.*43-3728_*43-3727insCGTGGCGAC
NM_080425.2:c.2069-3728_2069-3727insCGTGGCGAC NP_536350.2:n.2069-3728_2069-3727insCGTGGCGAC
NM_080425.3:c.2069-3728_2069-3727insCGTGGCGAC NP_536350.2:n.2069-3728_2069-3727insCGTGGCGAC
NM_080426.2:c.139+19_139+20insCGTGGCGAC NP_536351.1:n.139+19_139+20insCGTGGCGAC
NM_080426.3:c.139+19_139+20insCGTGGCGAC NP_536351.1:n.139+19_139+20insCGTGGCGAC
NR_003259.1:c.-4294967067+2531_-4294967067+2532insCGTGGCGAC
NR_132273.1:n.406+3066_406+3067insCGTGGCGAC
XM_017027812.2:c.2069-3728_2069-3727insCGTGGCGAC XP_016883301.1:n.2069-3728_2069-3727insCGTGGCGAC
XM_017027813.2:c.2069-3728_2069-3727insCGTGGCGAC XP_016883302.1:n.2069-3728_2069-3727insCGTGGCGAC
XM_017027814.2:c.2069-3728_2069-3727insCGTGGCGAC XP_016883303.1:n.2069-3728_2069-3727insCGTGGCGAC
XM_017027815.1:c.44-3728_44-3727insCGTGGCGAC XP_016883304.1:n.44-3728_44-3727insCGTGGCGAC
XM_017027816.1:c.-166+19_-166+20insCGTGGCGAC XP_016883305.1:n.-166+19_-166+20insCGTGGCGAC
XM_017027817.1:c.-39+2531_-39+2532insCGTGGCGAC XP_016883306.1:n.-39+2531_-39+2532insCGTGGCGAC
XM_017027819.1:c.-39+2552_-39+2553insCGTGGCGAC XP_016883308.1:n.-39+2552_-39+2553insCGTGGCGAC
XM_017027821.1:c.*43-3728_*43-3727insCGTGGCGAC XP_016883310.1:n.*43-3728_*43-3727insCGTGGCGAC
XM_017027822.1:c.*43-3728_*43-3727insCGTGGCGAC XP_016883311.1:n.*43-3728_*43-3727insCGTGGCGAC
XM_024451872.1:c.44-3728_44-3727insCGTGGCGAC XP_024307640.1:n.44-3728_44-3727insCGTGGCGAC
XM_024451875.1:c.-39+2552_-39+2553insCGTGGCGAC XP_024307643.1:n.-39+2552_-39+2553insCGTGGCGAC
XR_002958471.1:n.764+19_764+20insCGTGGCGAC
NM_000516.6:c.139+19_139+20insCGTGGCGAC NP_000507.1:n.139+19_139+20insCGTGGCGAC
NM_001077488.4:c.139+19_139+20insCGTGGCGAC NP_001070956.1:n.139+19_139+20insCGTGGCGAC
NM_001077489.4:c.139+19_139+20insCGTGGCGAC NP_001070957.1:n.139+19_139+20insCGTGGCGAC
NM_001309840.2:c.-39+2531_-39+2532insCGTGGCGAC NP_001296769.1:n.-39+2531_-39+2532insCGTGGCGAC
NM_001309842.2:c.139+19_139+20insCGTGGCGAC NP_001296771.1:n.139+19_139+20insCGTGGCGAC
NM_001309861.2:c.-38-3728_-38-3727insCGTGGCGAC NP_001296790.1:n.-38-3728_-38-3727insCGTGGCGAC
NM_016592.4:c.*43-3728_*43-3727insCGTGGCGAC NP_057676.1:n.*43-3728_*43-3727insCGTGGCGAC
NM_080426.4:c.139+19_139+20insCGTGGCGAC NP_536351.1:n.139+19_139+20insCGTGGCGAC
NM_000516.7:c.139+19_139+20insCGTGGCGAC MANE Select NP_000507.1:n.139+19_139+20insCGTGGCGAC
NM_001077488.5:c.139+19_139+20insCGTGGCGAC NP_001070956.1:n.139+19_139+20insCGTGGCGAC
NM_001077490.3:c.*1-3728_*1-3727insCGTGGCGAC NP_001070958.1:n.*1-3728_*1-3727insCGTGGCGAC
NM_016592.5:c.*43-3728_*43-3727insCGTGGCGAC MANE Plus Clinical NP_057676.1:n.*43-3728_*43-3727insCGTGGCGAC
NM_080425.4:c.2069-3728_2069-3727insCGTGGCGAC MANE Plus Clinical NP_536350.2:n.2069-3728_2069-3727insCGTGGCGAC
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