Canonical Allele Identifier: CA1018910688

Gene: GNAS

Linked Data

• gnomAD v3: 20-58892152-C-CAA
• gnomAD v4: 20-58892152-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58892152_58892153insAA , CM000682.2:g.58892152_58892153insAA	GRCh38
NC_000020.10:g.57467207_57467208insAA , CM000682.1:g.57467207_57467208insAA	GRCh37
NC_000020.9:g.56900602_56900603insAA	NCBI36
NG_016194.1:g.57413_57414insAA
NG_016194.2:g.57413_57414insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3460_2069-3459insAA	ENSP00000265621.6:n.2069-3460_2069-3459insAA
ENST00000419558.7:c.*43-3460_*43-3459insAA	ENSP00000416234.2:n.*43-3460_*43-3459insAA
ENST00000423897.7:c.2069-3460_2069-3459insAA	ENSP00000412356.2:n.2069-3460_2069-3459insAA
ENST00000453292.7:c.781-3460_781-3459insAA	ENSP00000392000.2:n.781-3460_781-3459insAA
ENST00000462499.6:c.-38-3460_-38-3459insAA	ENSP00000499758.2:n.-38-3460_-38-3459insAA
ENST00000464624.7:c.2160-3460_2160-3459insAA	ENSP00000499607.2:n.2160-3460_2160-3459insAA
ENST00000464788.6:c.-39+2939_-39+2940insAA	ENSP00000499239.2:n.-39+2939_-39+2940insAA
ENST00000467227.6:c.-38-3460_-38-3459insAA	ENSP00000499681.2:n.-38-3460_-38-3459insAA
ENST00000467321.6:c.-39+3106_-39+3107insAA	ENSP00000499523.2:n.-39+3106_-39+3107insAA
ENST00000468895.6:c.139+287_139+288insAA	ENSP00000499551.2:n.139+287_139+288insAA
ENST00000469431.6:c.-39+2746_-39+2747insAA	ENSP00000499654.2:n.-39+2746_-39+2747insAA
ENST00000470512.6:c.-39+2799_-39+2800insAA	ENSP00000499552.2:n.-39+2799_-39+2800insAA
ENST00000472183.6:c.-38-3460_-38-3459insAA	ENSP00000499673.2:n.-38-3460_-38-3459insAA
ENST00000476935.6:c.-96_-95insAA	ENSP00000499409.2:n.-96_-95insAA
ENST00000478585.6:c.-39+2799_-39+2800insAA	ENSP00000499762.2:n.-39+2799_-39+2800insAA
ENST00000480232.6:c.-39+2603_-39+2604insAA	ENSP00000499545.2:n.-39+2603_-39+2604insAA
ENST00000481039.6:c.-39+3244_-39+3245insAA	ENSP00000499767.2:n.-39+3244_-39+3245insAA
ENST00000482112.6:c.-38-3460_-38-3459insAA	ENSP00000499794.2:n.-38-3460_-38-3459insAA
ENST00000485673.6:c.-39+2603_-39+2604insAA	ENSP00000499334.2:n.-39+2603_-39+2604insAA
ENST00000488546.6:c.-39+3334_-39+3335insAA	ENSP00000499332.2:n.-39+3334_-39+3335insAA
ENST00000488652.6:c.-96_-95insAA	ENSP00000499435.2:n.-96_-95insAA
ENST00000492907.6:c.-96_-95insAA	ENSP00000499443.2:n.-96_-95insAA
ENST00000604005.6:c.-39+2820_-39+2821insAA	ENSP00000474219.2:n.-39+2820_-39+2821insAA
ENST00000663479.2:c.-38-3460_-38-3459insAA	ENSP00000499353.2:n.-38-3460_-38-3459insAA
ENST00000667293.2:c.-39+3248_-39+3249insAA	ENSP00000499293.2:n.-39+3248_-39+3249insAA
ENST00000676826.2:c.2069-3460_2069-3459insAA	ENSP00000504675.2:n.2069-3460_2069-3459insAA
ENST00000682803.1:c.-366+287_-366+288insAA	ENSP00000507069.1:n.-366+287_-366+288insAA
ENST00000683015.1:c.909+1363_909+1364insAA	ENSP00000506815.1:n.909+1363_909+1364insAA
ENST00000306090.12:c.44-3460_44-3459insAA	ENSP00000304472.12:n.44-3460_44-3459insAA
ENST00000338783.7:c.139+287_139+288insAA	ENSP00000345971.7:n.139+287_139+288insAA
ENST00000349036.8:c.2069-3460_2069-3459insAA	ENSP00000265621.5:n.2069-3460_2069-3459insAA
ENST00000354359.12:c.139+287_139+288insAA	ENSP00000346328.7:n.139+287_139+288insAA
ENST00000371085.8:c.139+287_139+288insAA MANE Select	ENSP00000360126.3:n.139+287_139+288insAA
ENST00000371100.9:c.2069-3460_2069-3459insAA MANE Plus Clinical	ENSP00000360141.3:n.2069-3460_2069-3459insAA
ENST00000419558.6:c.*43-3460_*43-3459insAA	ENSP00000416234.2:n.*43-3460_*43-3459insAA
ENST00000423897.6:c.2069-3460_2069-3459insAA	ENSP00000412356.2:n.2069-3460_2069-3459insAA
ENST00000453292.6:c.*43-3460_*43-3459insAA	ENSP00000392000.2:n.*43-3460_*43-3459insAA
ENST00000461152.6:c.909+1363_909+1364insAA	ENSP00000499274.1:n.909+1363_909+1364insAA
ENST00000481768.6:c.2227-3460_2227-3459insAA	ENSP00000499644.2:n.2227-3460_2227-3459insAA
ENST00000490374.6:n.223-3460_223-3459insAA
ENST00000657090.1:c.-38-3460_-38-3459insAA	ENSP00000499380.1:n.-38-3460_-38-3459insAA
ENST00000663479.1:c.-38-3460_-38-3459insAA	ENSP00000499353.1:n.-38-3460_-38-3459insAA
ENST00000667293.1:c.11-3460_11-3459insAA	ENSP00000499293.1:n.11-3460_11-3459insAA
ENST00000676826.1:c.2069-3460_2069-3459insAA	ENSP00000504675.1:n.2069-3460_2069-3459insAA
ENST00000265620.11:c.139+287_139+288insAA	ENSP00000265620.7:n.139+287_139+288insAA
ENST00000306090.11:c.93+333_93+334insAA	ENSP00000304472.11:n.93+333_93+334insAA
ENST00000313949.11:c.*43-3460_*43-3459insAA	ENSP00000323571.7:n.*43-3460_*43-3459insAA
ENST00000338783.6:c.106+287_106+288insAA	ENSP00000345971.6:n.106+287_106+288insAA
ENST00000349036.7:c.188-3460_188-3459insAA	ENSP00000265621.4:n.188-3460_188-3459insAA
ENST00000354359.11:c.139+287_139+288insAA	ENSP00000346328.7:n.139+287_139+288insAA
ENST00000371075.7:c.*43-3460_*43-3459insAA MANE Plus Clinical	ENSP00000360115.3:n.*43-3460_*43-3459insAA
ENST00000371081.5:c.139+287_139+288insAA	ENSP00000360122.1:n.139+287_139+288insAA
ENST00000371085.7:c.139+287_139+288insAA	ENSP00000360126.3:n.139+287_139+288insAA
ENST00000371095.7:c.139+287_139+288insAA	ENSP00000360136.3:n.139+287_139+288insAA
ENST00000371098.6:c.*43-3460_*43-3459insAA	ENSP00000360139.2:n.*43-3460_*43-3459insAA
ENST00000371100.8:c.2069-3460_2069-3459insAA	ENSP00000360141.3:n.2069-3460_2069-3459insAA
ENST00000371102.8:c.2069-3460_2069-3459insAA	ENSP00000360143.4:n.2069-3460_2069-3459insAA
ENST00000419558.5:c.384-3460_384-3459insAA
ENST00000423897.5:c.157-3460_157-3459insAA
ENST00000450130.5:c.228-3460_228-3459insAA
ENST00000453292.5:c.544-3460_544-3459insAA	ENSP00000392000.1:n.544-3460_544-3459insAA
ENST00000461152.5:n.147+1363_147+1364insAA
ENST00000462499.5:n.259-3460_259-3459insAA
ENST00000464624.6:n.2355+287_2355+288insAA
ENST00000464788.5:n.67+2939_67+2940insAA
ENST00000464960.5:n.406+3334_406+3335insAA
ENST00000467227.5:n.123-3460_123-3459insAA
ENST00000467321.5:n.154+3106_154+3107insAA
ENST00000468895.5:n.50+3244_50+3245insAA
ENST00000469431.5:n.256+2746_256+2747insAA
ENST00000470512.5:n.210+2799_210+2800insAA
ENST00000472183.5:n.392-3460_392-3459insAA
ENST00000476935.5:n.116_117insAA
ENST00000477931.5:n.254+2799_254+2800insAA
ENST00000478585.5:n.194+2799_194+2800insAA
ENST00000480232.5:n.155+2603_155+2604insAA
ENST00000480975.5:n.183+2799_183+2800insAA
ENST00000481039.5:n.56+3248_56+3249insAA
ENST00000481768.5:n.1324-3460_1324-3459insAA
ENST00000482112.5:n.259-3460_259-3459insAA
ENST00000484504.5:n.127+2799_127+2800insAA
ENST00000485673.5:n.426+2603_426+2604insAA
ENST00000488546.5:n.40+3334_40+3335insAA
ENST00000488652.5:n.172_173insAA
ENST00000490374.5:n.255-3460_255-3459insAA
ENST00000491348.5:n.534-3460_534-3459insAA
ENST00000492907.5:n.75_76insAA
ENST00000493744.5:n.233-3460_233-3459insAA
ENST00000604005.5:c.-39+2820_-39+2821insAA	ENSP00000474219.1:n.-39+2820_-39+2821insAA
NM_000516.4:c.139+287_139+288insAA	NP_000507.1:n.139+287_139+288insAA
NM_000516.5:c.139+287_139+288insAA	NP_000507.1:n.139+287_139+288insAA
NM_001077488.2:c.139+287_139+288insAA	NP_001070956.1:n.139+287_139+288insAA
NM_001077488.3:c.139+287_139+288insAA	NP_001070956.1:n.139+287_139+288insAA
NM_001077489.2:c.139+287_139+288insAA	NP_001070957.1:n.139+287_139+288insAA
NM_001077489.3:c.139+287_139+288insAA	NP_001070957.1:n.139+287_139+288insAA
NM_001077490.1:c.*1-3460_*1-3459insAA	NP_001070958.1:n.*1-3460_*1-3459insAA
NM_001077490.2:c.*1-3460_*1-3459insAA	NP_001070958.1:n.*1-3460_*1-3459insAA
NM_001309840.1:c.-39+2799_-39+2800insAA	NP_001296769.1:n.-39+2799_-39+2800insAA
NM_001309842.1:c.139+287_139+288insAA	NP_001296771.1:n.139+287_139+288insAA
NM_001309861.1:c.-38-3460_-38-3459insAA	NP_001296790.1:n.-38-3460_-38-3459insAA
NM_001309883.1:c.*159-3460_*159-3459insAA	NP_001296812.1:n.*159-3460_*159-3459insAA
NM_016592.2:c.*43-3460_*43-3459insAA	NP_057676.1:n.*43-3460_*43-3459insAA
NM_016592.3:c.*43-3460_*43-3459insAA	NP_057676.1:n.*43-3460_*43-3459insAA
NM_080425.2:c.2069-3460_2069-3459insAA	NP_536350.2:n.2069-3460_2069-3459insAA
NM_080425.3:c.2069-3460_2069-3459insAA	NP_536350.2:n.2069-3460_2069-3459insAA
NM_080426.2:c.139+287_139+288insAA	NP_536351.1:n.139+287_139+288insAA
NM_080426.3:c.139+287_139+288insAA	NP_536351.1:n.139+287_139+288insAA
NR_003259.1:c.-4294967067+2799_-4294967067+2800insAA
NR_132273.1:n.406+3334_406+3335insAA
XM_017027812.2:c.2069-3460_2069-3459insAA	XP_016883301.1:n.2069-3460_2069-3459insAA
XM_017027813.2:c.2069-3460_2069-3459insAA	XP_016883302.1:n.2069-3460_2069-3459insAA
XM_017027814.2:c.2069-3460_2069-3459insAA	XP_016883303.1:n.2069-3460_2069-3459insAA
XM_017027815.1:c.44-3460_44-3459insAA	XP_016883304.1:n.44-3460_44-3459insAA
XM_017027816.1:c.-166+287_-166+288insAA	XP_016883305.1:n.-166+287_-166+288insAA
XM_017027817.1:c.-39+2799_-39+2800insAA	XP_016883306.1:n.-39+2799_-39+2800insAA
XM_017027818.2:c.-96_-95insAA	XP_016883307.1:n.-96_-95insAA
XM_017027819.1:c.-39+2820_-39+2821insAA	XP_016883308.1:n.-39+2820_-39+2821insAA
XM_017027821.1:c.*43-3460_*43-3459insAA	XP_016883310.1:n.*43-3460_*43-3459insAA
XM_017027822.1:c.*43-3460_*43-3459insAA	XP_016883311.1:n.*43-3460_*43-3459insAA
XM_024451872.1:c.44-3460_44-3459insAA	XP_024307640.1:n.44-3460_44-3459insAA
XM_024451873.1:c.-96_-95insAA	XP_024307641.1:n.-96_-95insAA
XM_024451875.1:c.-39+2820_-39+2821insAA	XP_024307643.1:n.-39+2820_-39+2821insAA
XR_002958471.1:n.764+287_764+288insAA
NM_000516.6:c.139+287_139+288insAA	NP_000507.1:n.139+287_139+288insAA
NM_001077488.4:c.139+287_139+288insAA	NP_001070956.1:n.139+287_139+288insAA
NM_001077489.4:c.139+287_139+288insAA	NP_001070957.1:n.139+287_139+288insAA
NM_001309840.2:c.-39+2799_-39+2800insAA	NP_001296769.1:n.-39+2799_-39+2800insAA
NM_001309842.2:c.139+287_139+288insAA	NP_001296771.1:n.139+287_139+288insAA
NM_001309861.2:c.-38-3460_-38-3459insAA	NP_001296790.1:n.-38-3460_-38-3459insAA
NM_016592.4:c.*43-3460_*43-3459insAA	NP_057676.1:n.*43-3460_*43-3459insAA
NM_080426.4:c.139+287_139+288insAA	NP_536351.1:n.139+287_139+288insAA
NM_000516.7:c.139+287_139+288insAA MANE Select	NP_000507.1:n.139+287_139+288insAA
NM_001077488.5:c.139+287_139+288insAA	NP_001070956.1:n.139+287_139+288insAA
NM_001077490.3:c.*1-3460_*1-3459insAA	NP_001070958.1:n.*1-3460_*1-3459insAA
NM_016592.5:c.*43-3460_*43-3459insAA MANE Plus Clinical	NP_057676.1:n.*43-3460_*43-3459insAA
NM_080425.4:c.2069-3460_2069-3459insAA MANE Plus Clinical	NP_536350.2:n.2069-3460_2069-3459insAA