Canonical Allele Identifier: CA1018910742

Gene: GNAS

Linked Data

• dbSNP Id: rs2089474250
• gnomAD v3: 20-58892157-CTTTCT-C
• gnomAD v4: 20-58892157-CTTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58892158_58892162del , CM000682.2:g.58892158_58892162del	GRCh38
NC_000020.10:g.57467213_57467217del , CM000682.1:g.57467213_57467217del	GRCh37
NC_000020.9:g.56900608_56900612del	NCBI36
NG_016194.1:g.57419_57423del
NG_016194.2:g.57419_57423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3454_2069-3450del	ENSP00000265621.6:n.2069-3454_2069-3450del
ENST00000419558.7:c.*43-3454_*43-3450del	ENSP00000416234.2:n.*43-3454_*43-3450del
ENST00000423897.7:c.2069-3454_2069-3450del	ENSP00000412356.2:n.2069-3454_2069-3450del
ENST00000453292.7:c.781-3454_781-3450del	ENSP00000392000.2:n.781-3454_781-3450del
ENST00000462499.6:c.-38-3454_-38-3450del	ENSP00000499758.2:n.-38-3454_-38-3450del
ENST00000464624.7:c.2160-3454_2160-3450del	ENSP00000499607.2:n.2160-3454_2160-3450del
ENST00000464788.6:c.-39+2945_-39+2949del	ENSP00000499239.2:n.-39+2945_-39+2949del
ENST00000467227.6:c.-38-3454_-38-3450del	ENSP00000499681.2:n.-38-3454_-38-3450del
ENST00000467321.6:c.-39+3112_-39+3116del	ENSP00000499523.2:n.-39+3112_-39+3116del
ENST00000468895.6:c.139+293_139+297del	ENSP00000499551.2:n.139+293_139+297del
ENST00000469431.6:c.-39+2752_-39+2756del	ENSP00000499654.2:n.-39+2752_-39+2756del
ENST00000470512.6:c.-39+2805_-39+2809del	ENSP00000499552.2:n.-39+2805_-39+2809del
ENST00000472183.6:c.-38-3454_-38-3450del	ENSP00000499673.2:n.-38-3454_-38-3450del
ENST00000476935.6:c.-90_-86del	ENSP00000499409.2:n.-90_-86del
ENST00000478585.6:c.-39+2805_-39+2809del	ENSP00000499762.2:n.-39+2805_-39+2809del
ENST00000480232.6:c.-39+2609_-39+2613del	ENSP00000499545.2:n.-39+2609_-39+2613del
ENST00000481039.6:c.-39+3250_-39+3254del	ENSP00000499767.2:n.-39+3250_-39+3254del
ENST00000482112.6:c.-38-3454_-38-3450del	ENSP00000499794.2:n.-38-3454_-38-3450del
ENST00000485673.6:c.-39+2609_-39+2613del	ENSP00000499334.2:n.-39+2609_-39+2613del
ENST00000488546.6:c.-39+3340_-39+3344del	ENSP00000499332.2:n.-39+3340_-39+3344del
ENST00000488652.6:c.-90_-86del	ENSP00000499435.2:n.-90_-86del
ENST00000492907.6:c.-90_-86del	ENSP00000499443.2:n.-90_-86del
ENST00000604005.6:c.-39+2826_-39+2830del	ENSP00000474219.2:n.-39+2826_-39+2830del
ENST00000663479.2:c.-38-3454_-38-3450del	ENSP00000499353.2:n.-38-3454_-38-3450del
ENST00000667293.2:c.-39+3254_-39+3258del	ENSP00000499293.2:n.-39+3254_-39+3258del
ENST00000676826.2:c.2069-3454_2069-3450del	ENSP00000504675.2:n.2069-3454_2069-3450del
ENST00000682803.1:c.-366+293_-366+297del	ENSP00000507069.1:n.-366+293_-366+297del
ENST00000683015.1:c.909+1369_909+1373del	ENSP00000506815.1:n.909+1369_909+1373del
ENST00000306090.12:c.44-3454_44-3450del	ENSP00000304472.12:n.44-3454_44-3450del
ENST00000338783.7:c.139+293_139+297del	ENSP00000345971.7:n.139+293_139+297del
ENST00000349036.8:c.2069-3454_2069-3450del	ENSP00000265621.5:n.2069-3454_2069-3450del
ENST00000354359.12:c.139+293_139+297del	ENSP00000346328.7:n.139+293_139+297del
ENST00000371085.8:c.139+293_139+297del MANE Select	ENSP00000360126.3:n.139+293_139+297del
ENST00000371100.9:c.2069-3454_2069-3450del MANE Plus Clinical	ENSP00000360141.3:n.2069-3454_2069-3450del
ENST00000419558.6:c.*43-3454_*43-3450del	ENSP00000416234.2:n.*43-3454_*43-3450del
ENST00000423897.6:c.2069-3454_2069-3450del	ENSP00000412356.2:n.2069-3454_2069-3450del
ENST00000453292.6:c.*43-3454_*43-3450del	ENSP00000392000.2:n.*43-3454_*43-3450del
ENST00000461152.6:c.909+1369_909+1373del	ENSP00000499274.1:n.909+1369_909+1373del
ENST00000481768.6:c.2227-3454_2227-3450del	ENSP00000499644.2:n.2227-3454_2227-3450del
ENST00000490374.6:n.223-3454_223-3450del
ENST00000657090.1:c.-38-3454_-38-3450del	ENSP00000499380.1:n.-38-3454_-38-3450del
ENST00000663479.1:c.-38-3454_-38-3450del	ENSP00000499353.1:n.-38-3454_-38-3450del
ENST00000667293.1:c.11-3454_11-3450del	ENSP00000499293.1:n.11-3454_11-3450del
ENST00000676826.1:c.2069-3454_2069-3450del	ENSP00000504675.1:n.2069-3454_2069-3450del
ENST00000265620.11:c.139+293_139+297del	ENSP00000265620.7:n.139+293_139+297del
ENST00000306090.11:c.93+339_93+343del	ENSP00000304472.11:n.93+339_93+343del
ENST00000313949.11:c.*43-3454_*43-3450del	ENSP00000323571.7:n.*43-3454_*43-3450del
ENST00000338783.6:c.106+293_106+297del	ENSP00000345971.6:n.106+293_106+297del
ENST00000349036.7:c.188-3454_188-3450del	ENSP00000265621.4:n.188-3454_188-3450del
ENST00000354359.11:c.139+293_139+297del	ENSP00000346328.7:n.139+293_139+297del
ENST00000371075.7:c.*43-3454_*43-3450del MANE Plus Clinical	ENSP00000360115.3:n.*43-3454_*43-3450del
ENST00000371081.5:c.139+293_139+297del	ENSP00000360122.1:n.139+293_139+297del
ENST00000371085.7:c.139+293_139+297del	ENSP00000360126.3:n.139+293_139+297del
ENST00000371095.7:c.139+293_139+297del	ENSP00000360136.3:n.139+293_139+297del
ENST00000371098.6:c.*43-3454_*43-3450del	ENSP00000360139.2:n.*43-3454_*43-3450del
ENST00000371100.8:c.2069-3454_2069-3450del	ENSP00000360141.3:n.2069-3454_2069-3450del
ENST00000371102.8:c.2069-3454_2069-3450del	ENSP00000360143.4:n.2069-3454_2069-3450del
ENST00000419558.5:c.384-3454_384-3450del
ENST00000423897.5:c.157-3454_157-3450del
ENST00000450130.5:c.228-3454_228-3450del
ENST00000453292.5:c.544-3454_544-3450del	ENSP00000392000.1:n.544-3454_544-3450del
ENST00000461152.5:n.147+1369_147+1373del
ENST00000462499.5:n.259-3454_259-3450del
ENST00000464624.6:n.2355+293_2355+297del
ENST00000464788.5:n.67+2945_67+2949del
ENST00000464960.5:n.406+3340_406+3344del
ENST00000467227.5:n.123-3454_123-3450del
ENST00000467321.5:n.154+3112_154+3116del
ENST00000468895.5:n.50+3250_50+3254del
ENST00000469431.5:n.256+2752_256+2756del
ENST00000470512.5:n.210+2805_210+2809del
ENST00000472183.5:n.392-3454_392-3450del
ENST00000476935.5:n.122_126del
ENST00000477931.5:n.254+2805_254+2809del
ENST00000478585.5:n.194+2805_194+2809del
ENST00000480232.5:n.155+2609_155+2613del
ENST00000480975.5:n.183+2805_183+2809del
ENST00000481039.5:n.56+3254_56+3258del
ENST00000481768.5:n.1324-3454_1324-3450del
ENST00000482112.5:n.259-3454_259-3450del
ENST00000484504.5:n.127+2805_127+2809del
ENST00000485673.5:n.426+2609_426+2613del
ENST00000488546.5:n.40+3340_40+3344del
ENST00000488652.5:n.178_182del
ENST00000490374.5:n.255-3454_255-3450del
ENST00000491348.5:n.534-3454_534-3450del
ENST00000492907.5:n.81_85del
ENST00000493744.5:n.233-3454_233-3450del
ENST00000604005.5:c.-39+2826_-39+2830del	ENSP00000474219.1:n.-39+2826_-39+2830del
NM_000516.4:c.139+293_139+297del	NP_000507.1:n.139+293_139+297del
NM_000516.5:c.139+293_139+297del	NP_000507.1:n.139+293_139+297del
NM_001077488.2:c.139+293_139+297del	NP_001070956.1:n.139+293_139+297del
NM_001077488.3:c.139+293_139+297del	NP_001070956.1:n.139+293_139+297del
NM_001077489.2:c.139+293_139+297del	NP_001070957.1:n.139+293_139+297del
NM_001077489.3:c.139+293_139+297del	NP_001070957.1:n.139+293_139+297del
NM_001077490.1:c.*1-3454_*1-3450del	NP_001070958.1:n.*1-3454_*1-3450del
NM_001077490.2:c.*1-3454_*1-3450del	NP_001070958.1:n.*1-3454_*1-3450del
NM_001309840.1:c.-39+2805_-39+2809del	NP_001296769.1:n.-39+2805_-39+2809del
NM_001309842.1:c.139+293_139+297del	NP_001296771.1:n.139+293_139+297del
NM_001309861.1:c.-38-3454_-38-3450del	NP_001296790.1:n.-38-3454_-38-3450del
NM_001309883.1:c.*159-3454_*159-3450del	NP_001296812.1:n.*159-3454_*159-3450del
NM_016592.2:c.*43-3454_*43-3450del	NP_057676.1:n.*43-3454_*43-3450del
NM_016592.3:c.*43-3454_*43-3450del	NP_057676.1:n.*43-3454_*43-3450del
NM_080425.2:c.2069-3454_2069-3450del	NP_536350.2:n.2069-3454_2069-3450del
NM_080425.3:c.2069-3454_2069-3450del	NP_536350.2:n.2069-3454_2069-3450del
NM_080426.2:c.139+293_139+297del	NP_536351.1:n.139+293_139+297del
NM_080426.3:c.139+293_139+297del	NP_536351.1:n.139+293_139+297del
NR_003259.1:c.-4294967067+2805_-4294967067+2809del
NR_132273.1:n.406+3340_406+3344del
XM_017027812.2:c.2069-3454_2069-3450del	XP_016883301.1:n.2069-3454_2069-3450del
XM_017027813.2:c.2069-3454_2069-3450del	XP_016883302.1:n.2069-3454_2069-3450del
XM_017027814.2:c.2069-3454_2069-3450del	XP_016883303.1:n.2069-3454_2069-3450del
XM_017027815.1:c.44-3454_44-3450del	XP_016883304.1:n.44-3454_44-3450del
XM_017027816.1:c.-166+293_-166+297del	XP_016883305.1:n.-166+293_-166+297del
XM_017027817.1:c.-39+2805_-39+2809del	XP_016883306.1:n.-39+2805_-39+2809del
XM_017027818.2:c.-90_-86del	XP_016883307.1:n.-90_-86del
XM_017027819.1:c.-39+2826_-39+2830del	XP_016883308.1:n.-39+2826_-39+2830del
XM_017027821.1:c.*43-3454_*43-3450del	XP_016883310.1:n.*43-3454_*43-3450del
XM_017027822.1:c.*43-3454_*43-3450del	XP_016883311.1:n.*43-3454_*43-3450del
XM_024451872.1:c.44-3454_44-3450del	XP_024307640.1:n.44-3454_44-3450del
XM_024451873.1:c.-90_-86del	XP_024307641.1:n.-90_-86del
XM_024451875.1:c.-39+2826_-39+2830del	XP_024307643.1:n.-39+2826_-39+2830del
XR_002958471.1:n.764+293_764+297del
NM_000516.6:c.139+293_139+297del	NP_000507.1:n.139+293_139+297del
NM_001077488.4:c.139+293_139+297del	NP_001070956.1:n.139+293_139+297del
NM_001077489.4:c.139+293_139+297del	NP_001070957.1:n.139+293_139+297del
NM_001309840.2:c.-39+2805_-39+2809del	NP_001296769.1:n.-39+2805_-39+2809del
NM_001309842.2:c.139+293_139+297del	NP_001296771.1:n.139+293_139+297del
NM_001309861.2:c.-38-3454_-38-3450del	NP_001296790.1:n.-38-3454_-38-3450del
NM_016592.4:c.*43-3454_*43-3450del	NP_057676.1:n.*43-3454_*43-3450del
NM_080426.4:c.139+293_139+297del	NP_536351.1:n.139+293_139+297del
NM_000516.7:c.139+293_139+297del MANE Select	NP_000507.1:n.139+293_139+297del
NM_001077488.5:c.139+293_139+297del	NP_001070956.1:n.139+293_139+297del
NM_001077490.3:c.*1-3454_*1-3450del	NP_001070958.1:n.*1-3454_*1-3450del
NM_016592.5:c.*43-3454_*43-3450del MANE Plus Clinical	NP_057676.1:n.*43-3454_*43-3450del
NM_080425.4:c.2069-3454_2069-3450del MANE Plus Clinical	NP_536350.2:n.2069-3454_2069-3450del