Canonical Allele Identifier: CA2653521835

Gene: GNAS

Linked Data

• gnomAD v4: 20-58891873-C-CGGGCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891879_58891885dup , CM000682.2:g.58891879_58891885dup	GRCh38
NC_000020.10:g.57466934_57466940dup , CM000682.1:g.57466934_57466940dup	GRCh37
NC_000020.9:g.56900329_56900335dup	NCBI36
NG_016194.1:g.57140_57146dup
NG_016194.2:g.57140_57146dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3733_2069-3727dup	ENSP00000265621.6:n.2069-3733_2069-3727dup
ENST00000419558.7:c.*43-3733_*43-3727dup	ENSP00000416234.2:n.*43-3733_*43-3727dup
ENST00000423897.7:c.2069-3733_2069-3727dup	ENSP00000412356.2:n.2069-3733_2069-3727dup
ENST00000453292.7:c.781-3733_781-3727dup	ENSP00000392000.2:n.781-3733_781-3727dup
ENST00000462499.6:c.-38-3733_-38-3727dup	ENSP00000499758.2:n.-38-3733_-38-3727dup
ENST00000464624.7:c.2160-3733_2160-3727dup	ENSP00000499607.2:n.2160-3733_2160-3727dup
ENST00000464788.6:c.-39+2666_-39+2672dup	ENSP00000499239.2:n.-39+2666_-39+2672dup
ENST00000467227.6:c.-38-3733_-38-3727dup	ENSP00000499681.2:n.-38-3733_-38-3727dup
ENST00000467321.6:c.-39+2833_-39+2839dup	ENSP00000499523.2:n.-39+2833_-39+2839dup
ENST00000468895.6:c.139+14_139+20dup	ENSP00000499551.2:n.139+14_139+20dup
ENST00000469431.6:c.-39+2473_-39+2479dup	ENSP00000499654.2:n.-39+2473_-39+2479dup
ENST00000470512.6:c.-39+2526_-39+2532dup	ENSP00000499552.2:n.-39+2526_-39+2532dup
ENST00000472183.6:c.-38-3733_-38-3727dup	ENSP00000499673.2:n.-38-3733_-38-3727dup
ENST00000478585.6:c.-39+2526_-39+2532dup	ENSP00000499762.2:n.-39+2526_-39+2532dup
ENST00000480232.6:c.-39+2330_-39+2336dup	ENSP00000499545.2:n.-39+2330_-39+2336dup
ENST00000481039.6:c.-39+2971_-39+2977dup	ENSP00000499767.2:n.-39+2971_-39+2977dup
ENST00000482112.6:c.-38-3733_-38-3727dup	ENSP00000499794.2:n.-38-3733_-38-3727dup
ENST00000485673.6:c.-39+2330_-39+2336dup	ENSP00000499334.2:n.-39+2330_-39+2336dup
ENST00000488546.6:c.-39+3061_-39+3067dup	ENSP00000499332.2:n.-39+3061_-39+3067dup
ENST00000604005.6:c.-39+2547_-39+2553dup	ENSP00000474219.2:n.-39+2547_-39+2553dup
ENST00000663479.2:c.-38-3733_-38-3727dup	ENSP00000499353.2:n.-38-3733_-38-3727dup
ENST00000667293.2:c.-39+2975_-39+2981dup	ENSP00000499293.2:n.-39+2975_-39+2981dup
ENST00000676826.2:c.2069-3733_2069-3727dup	ENSP00000504675.2:n.2069-3733_2069-3727dup
ENST00000682803.1:c.-366+14_-366+20dup	ENSP00000507069.1:n.-366+14_-366+20dup
ENST00000683015.1:c.909+1090_909+1096dup	ENSP00000506815.1:n.909+1090_909+1096dup
ENST00000306090.12:c.44-3733_44-3727dup	ENSP00000304472.12:n.44-3733_44-3727dup
ENST00000338783.7:c.139+14_139+20dup	ENSP00000345971.7:n.139+14_139+20dup
ENST00000349036.8:c.2069-3733_2069-3727dup	ENSP00000265621.5:n.2069-3733_2069-3727dup
ENST00000354359.12:c.139+14_139+20dup	ENSP00000346328.7:n.139+14_139+20dup
ENST00000371085.8:c.139+14_139+20dup MANE Select	ENSP00000360126.3:n.139+14_139+20dup
ENST00000371100.9:c.2069-3733_2069-3727dup MANE Plus Clinical	ENSP00000360141.3:n.2069-3733_2069-3727dup
ENST00000419558.6:c.*43-3733_*43-3727dup	ENSP00000416234.2:n.*43-3733_*43-3727dup
ENST00000423897.6:c.2069-3733_2069-3727dup	ENSP00000412356.2:n.2069-3733_2069-3727dup
ENST00000453292.6:c.*43-3733_*43-3727dup	ENSP00000392000.2:n.*43-3733_*43-3727dup
ENST00000461152.6:c.909+1090_909+1096dup	ENSP00000499274.1:n.909+1090_909+1096dup
ENST00000481768.6:c.2227-3733_2227-3727dup	ENSP00000499644.2:n.2227-3733_2227-3727dup
ENST00000490374.6:n.223-3733_223-3727dup
ENST00000657090.1:c.-38-3733_-38-3727dup	ENSP00000499380.1:n.-38-3733_-38-3727dup
ENST00000663479.1:c.-38-3733_-38-3727dup	ENSP00000499353.1:n.-38-3733_-38-3727dup
ENST00000667293.1:c.11-3733_11-3727dup	ENSP00000499293.1:n.11-3733_11-3727dup
ENST00000676826.1:c.2069-3733_2069-3727dup	ENSP00000504675.1:n.2069-3733_2069-3727dup
ENST00000265620.11:c.139+14_139+20dup	ENSP00000265620.7:n.139+14_139+20dup
ENST00000306090.11:c.93+60_93+66dup	ENSP00000304472.11:n.93+60_93+66dup
ENST00000313949.11:c.*43-3733_*43-3727dup	ENSP00000323571.7:n.*43-3733_*43-3727dup
ENST00000338783.6:c.106+14_106+20dup	ENSP00000345971.6:n.106+14_106+20dup
ENST00000349036.7:c.188-3733_188-3727dup	ENSP00000265621.4:n.188-3733_188-3727dup
ENST00000354359.11:c.139+14_139+20dup	ENSP00000346328.7:n.139+14_139+20dup
ENST00000371075.7:c.*43-3733_*43-3727dup MANE Plus Clinical	ENSP00000360115.3:n.*43-3733_*43-3727dup
ENST00000371081.5:c.139+14_139+20dup	ENSP00000360122.1:n.139+14_139+20dup
ENST00000371085.7:c.139+14_139+20dup	ENSP00000360126.3:n.139+14_139+20dup
ENST00000371095.7:c.139+14_139+20dup	ENSP00000360136.3:n.139+14_139+20dup
ENST00000371098.6:c.*43-3733_*43-3727dup	ENSP00000360139.2:n.*43-3733_*43-3727dup
ENST00000371100.8:c.2069-3733_2069-3727dup	ENSP00000360141.3:n.2069-3733_2069-3727dup
ENST00000371102.8:c.2069-3733_2069-3727dup	ENSP00000360143.4:n.2069-3733_2069-3727dup
ENST00000419558.5:c.384-3733_384-3727dup
ENST00000423897.5:c.157-3733_157-3727dup
ENST00000450130.5:c.228-3733_228-3727dup
ENST00000453292.5:c.544-3733_544-3727dup	ENSP00000392000.1:n.544-3733_544-3727dup
ENST00000461152.5:n.147+1090_147+1096dup
ENST00000462499.5:n.259-3733_259-3727dup
ENST00000464624.6:n.2355+14_2355+20dup
ENST00000464788.5:n.67+2666_67+2672dup
ENST00000464960.5:n.406+3061_406+3067dup
ENST00000467227.5:n.123-3733_123-3727dup
ENST00000467321.5:n.154+2833_154+2839dup
ENST00000468895.5:n.50+2971_50+2977dup
ENST00000469431.5:n.256+2473_256+2479dup
ENST00000470512.5:n.210+2526_210+2532dup
ENST00000472183.5:n.392-3733_392-3727dup
ENST00000477931.5:n.254+2526_254+2532dup
ENST00000478585.5:n.194+2526_194+2532dup
ENST00000480232.5:n.155+2330_155+2336dup
ENST00000480975.5:n.183+2526_183+2532dup
ENST00000481039.5:n.56+2975_56+2981dup
ENST00000481768.5:n.1324-3733_1324-3727dup
ENST00000482112.5:n.259-3733_259-3727dup
ENST00000484504.5:n.127+2526_127+2532dup
ENST00000485673.5:n.426+2330_426+2336dup
ENST00000488546.5:n.40+3061_40+3067dup
ENST00000490374.5:n.255-3733_255-3727dup
ENST00000491348.5:n.534-3733_534-3727dup
ENST00000493744.5:n.233-3733_233-3727dup
ENST00000604005.5:c.-39+2547_-39+2553dup	ENSP00000474219.1:n.-39+2547_-39+2553dup
NM_000516.4:c.139+14_139+20dup	NP_000507.1:n.139+14_139+20dup
NM_000516.5:c.139+14_139+20dup	NP_000507.1:n.139+14_139+20dup
NM_001077488.2:c.139+14_139+20dup	NP_001070956.1:n.139+14_139+20dup
NM_001077488.3:c.139+14_139+20dup	NP_001070956.1:n.139+14_139+20dup
NM_001077489.2:c.139+14_139+20dup	NP_001070957.1:n.139+14_139+20dup
NM_001077489.3:c.139+14_139+20dup	NP_001070957.1:n.139+14_139+20dup
NM_001077490.1:c.*1-3733_*1-3727dup	NP_001070958.1:n.*1-3733_*1-3727dup
NM_001077490.2:c.*1-3733_*1-3727dup	NP_001070958.1:n.*1-3733_*1-3727dup
NM_001309840.1:c.-39+2526_-39+2532dup	NP_001296769.1:n.-39+2526_-39+2532dup
NM_001309842.1:c.139+14_139+20dup	NP_001296771.1:n.139+14_139+20dup
NM_001309861.1:c.-38-3733_-38-3727dup	NP_001296790.1:n.-38-3733_-38-3727dup
NM_001309883.1:c.*159-3733_*159-3727dup	NP_001296812.1:n.*159-3733_*159-3727dup
NM_016592.2:c.*43-3733_*43-3727dup	NP_057676.1:n.*43-3733_*43-3727dup
NM_016592.3:c.*43-3733_*43-3727dup	NP_057676.1:n.*43-3733_*43-3727dup
NM_080425.2:c.2069-3733_2069-3727dup	NP_536350.2:n.2069-3733_2069-3727dup
NM_080425.3:c.2069-3733_2069-3727dup	NP_536350.2:n.2069-3733_2069-3727dup
NM_080426.2:c.139+14_139+20dup	NP_536351.1:n.139+14_139+20dup
NM_080426.3:c.139+14_139+20dup	NP_536351.1:n.139+14_139+20dup
NR_003259.1:c.-4294967067+2526_-4294967067+2532dup
NR_132273.1:n.406+3061_406+3067dup
XM_017027812.2:c.2069-3733_2069-3727dup	XP_016883301.1:n.2069-3733_2069-3727dup
XM_017027813.2:c.2069-3733_2069-3727dup	XP_016883302.1:n.2069-3733_2069-3727dup
XM_017027814.2:c.2069-3733_2069-3727dup	XP_016883303.1:n.2069-3733_2069-3727dup
XM_017027815.1:c.44-3733_44-3727dup	XP_016883304.1:n.44-3733_44-3727dup
XM_017027816.1:c.-166+14_-166+20dup	XP_016883305.1:n.-166+14_-166+20dup
XM_017027817.1:c.-39+2526_-39+2532dup	XP_016883306.1:n.-39+2526_-39+2532dup
XM_017027819.1:c.-39+2547_-39+2553dup	XP_016883308.1:n.-39+2547_-39+2553dup
XM_017027821.1:c.*43-3733_*43-3727dup	XP_016883310.1:n.*43-3733_*43-3727dup
XM_017027822.1:c.*43-3733_*43-3727dup	XP_016883311.1:n.*43-3733_*43-3727dup
XM_024451872.1:c.44-3733_44-3727dup	XP_024307640.1:n.44-3733_44-3727dup
XM_024451875.1:c.-39+2547_-39+2553dup	XP_024307643.1:n.-39+2547_-39+2553dup
XR_002958471.1:n.764+14_764+20dup
NM_000516.6:c.139+14_139+20dup	NP_000507.1:n.139+14_139+20dup
NM_001077488.4:c.139+14_139+20dup	NP_001070956.1:n.139+14_139+20dup
NM_001077489.4:c.139+14_139+20dup	NP_001070957.1:n.139+14_139+20dup
NM_001309840.2:c.-39+2526_-39+2532dup	NP_001296769.1:n.-39+2526_-39+2532dup
NM_001309842.2:c.139+14_139+20dup	NP_001296771.1:n.139+14_139+20dup
NM_001309861.2:c.-38-3733_-38-3727dup	NP_001296790.1:n.-38-3733_-38-3727dup
NM_016592.4:c.*43-3733_*43-3727dup	NP_057676.1:n.*43-3733_*43-3727dup
NM_080426.4:c.139+14_139+20dup	NP_536351.1:n.139+14_139+20dup
NM_000516.7:c.139+14_139+20dup MANE Select	NP_000507.1:n.139+14_139+20dup
NM_001077488.5:c.139+14_139+20dup	NP_001070956.1:n.139+14_139+20dup
NM_001077490.3:c.*1-3733_*1-3727dup	NP_001070958.1:n.*1-3733_*1-3727dup
NM_016592.5:c.*43-3733_*43-3727dup MANE Plus Clinical	NP_057676.1:n.*43-3733_*43-3727dup
NM_080425.4:c.2069-3733_2069-3727dup MANE Plus Clinical	NP_536350.2:n.2069-3733_2069-3727dup