Canonical Allele Identifier: CA2653521935

Gene: GNAS

Linked Data

• gnomAD v4: 20-58891943-GCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891946_58891977del , CM000682.2:g.58891946_58891977del	GRCh38
NC_000020.10:g.57467001_57467032del , CM000682.1:g.57467001_57467032del	GRCh37
NC_000020.9:g.56900396_56900427del	NCBI36
NG_016194.1:g.57207_57238del
NG_016194.2:g.57207_57238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3666_2069-3635del	ENSP00000265621.6:n.2069-3666_2069-3635del
ENST00000419558.7:c.*43-3666_*43-3635del	ENSP00000416234.2:n.*43-3666_*43-3635del
ENST00000423897.7:c.2069-3666_2069-3635del	ENSP00000412356.2:n.2069-3666_2069-3635del
ENST00000453292.7:c.781-3666_781-3635del	ENSP00000392000.2:n.781-3666_781-3635del
ENST00000462499.6:c.-38-3666_-38-3635del	ENSP00000499758.2:n.-38-3666_-38-3635del
ENST00000464624.7:c.2160-3666_2160-3635del	ENSP00000499607.2:n.2160-3666_2160-3635del
ENST00000464788.6:c.-39+2733_-39+2764del	ENSP00000499239.2:n.-39+2733_-39+2764del
ENST00000467227.6:c.-38-3666_-38-3635del	ENSP00000499681.2:n.-38-3666_-38-3635del
ENST00000467321.6:c.-39+2900_-39+2931del	ENSP00000499523.2:n.-39+2900_-39+2931del
ENST00000468895.6:c.139+81_139+112del	ENSP00000499551.2:n.139+81_139+112del
ENST00000469431.6:c.-39+2540_-39+2571del	ENSP00000499654.2:n.-39+2540_-39+2571del
ENST00000470512.6:c.-39+2593_-39+2624del	ENSP00000499552.2:n.-39+2593_-39+2624del
ENST00000472183.6:c.-38-3666_-38-3635del	ENSP00000499673.2:n.-38-3666_-38-3635del
ENST00000478585.6:c.-39+2593_-39+2624del	ENSP00000499762.2:n.-39+2593_-39+2624del
ENST00000480232.6:c.-39+2397_-39+2428del	ENSP00000499545.2:n.-39+2397_-39+2428del
ENST00000481039.6:c.-39+3038_-39+3069del	ENSP00000499767.2:n.-39+3038_-39+3069del
ENST00000482112.6:c.-38-3666_-38-3635del	ENSP00000499794.2:n.-38-3666_-38-3635del
ENST00000485673.6:c.-39+2397_-39+2428del	ENSP00000499334.2:n.-39+2397_-39+2428del
ENST00000488546.6:c.-39+3128_-39+3159del	ENSP00000499332.2:n.-39+3128_-39+3159del
ENST00000604005.6:c.-39+2614_-39+2645del	ENSP00000474219.2:n.-39+2614_-39+2645del
ENST00000663479.2:c.-38-3666_-38-3635del	ENSP00000499353.2:n.-38-3666_-38-3635del
ENST00000667293.2:c.-39+3042_-39+3073del	ENSP00000499293.2:n.-39+3042_-39+3073del
ENST00000676826.2:c.2069-3666_2069-3635del	ENSP00000504675.2:n.2069-3666_2069-3635del
ENST00000682803.1:c.-366+81_-366+112del	ENSP00000507069.1:n.-366+81_-366+112del
ENST00000683015.1:c.909+1157_909+1188del	ENSP00000506815.1:n.909+1157_909+1188del
ENST00000306090.12:c.44-3666_44-3635del	ENSP00000304472.12:n.44-3666_44-3635del
ENST00000338783.7:c.139+81_139+112del	ENSP00000345971.7:n.139+81_139+112del
ENST00000349036.8:c.2069-3666_2069-3635del	ENSP00000265621.5:n.2069-3666_2069-3635del
ENST00000354359.12:c.139+81_139+112del	ENSP00000346328.7:n.139+81_139+112del
ENST00000371085.8:c.139+81_139+112del MANE Select	ENSP00000360126.3:n.139+81_139+112del
ENST00000371100.9:c.2069-3666_2069-3635del MANE Plus Clinical	ENSP00000360141.3:n.2069-3666_2069-3635del
ENST00000419558.6:c.*43-3666_*43-3635del	ENSP00000416234.2:n.*43-3666_*43-3635del
ENST00000423897.6:c.2069-3666_2069-3635del	ENSP00000412356.2:n.2069-3666_2069-3635del
ENST00000453292.6:c.*43-3666_*43-3635del	ENSP00000392000.2:n.*43-3666_*43-3635del
ENST00000461152.6:c.909+1157_909+1188del	ENSP00000499274.1:n.909+1157_909+1188del
ENST00000481768.6:c.2227-3666_2227-3635del	ENSP00000499644.2:n.2227-3666_2227-3635del
ENST00000490374.6:n.223-3666_223-3635del
ENST00000657090.1:c.-38-3666_-38-3635del	ENSP00000499380.1:n.-38-3666_-38-3635del
ENST00000663479.1:c.-38-3666_-38-3635del	ENSP00000499353.1:n.-38-3666_-38-3635del
ENST00000667293.1:c.11-3666_11-3635del	ENSP00000499293.1:n.11-3666_11-3635del
ENST00000676826.1:c.2069-3666_2069-3635del	ENSP00000504675.1:n.2069-3666_2069-3635del
ENST00000265620.11:c.139+81_139+112del	ENSP00000265620.7:n.139+81_139+112del
ENST00000306090.11:c.93+127_93+158del	ENSP00000304472.11:n.93+127_93+158del
ENST00000313949.11:c.*43-3666_*43-3635del	ENSP00000323571.7:n.*43-3666_*43-3635del
ENST00000338783.6:c.106+81_106+112del	ENSP00000345971.6:n.106+81_106+112del
ENST00000349036.7:c.188-3666_188-3635del	ENSP00000265621.4:n.188-3666_188-3635del
ENST00000354359.11:c.139+81_139+112del	ENSP00000346328.7:n.139+81_139+112del
ENST00000371075.7:c.*43-3666_*43-3635del MANE Plus Clinical	ENSP00000360115.3:n.*43-3666_*43-3635del
ENST00000371081.5:c.139+81_139+112del	ENSP00000360122.1:n.139+81_139+112del
ENST00000371085.7:c.139+81_139+112del	ENSP00000360126.3:n.139+81_139+112del
ENST00000371095.7:c.139+81_139+112del	ENSP00000360136.3:n.139+81_139+112del
ENST00000371098.6:c.*43-3666_*43-3635del	ENSP00000360139.2:n.*43-3666_*43-3635del
ENST00000371100.8:c.2069-3666_2069-3635del	ENSP00000360141.3:n.2069-3666_2069-3635del
ENST00000371102.8:c.2069-3666_2069-3635del	ENSP00000360143.4:n.2069-3666_2069-3635del
ENST00000419558.5:c.384-3666_384-3635del
ENST00000423897.5:c.157-3666_157-3635del
ENST00000450130.5:c.228-3666_228-3635del
ENST00000453292.5:c.544-3666_544-3635del	ENSP00000392000.1:n.544-3666_544-3635del
ENST00000461152.5:n.147+1157_147+1188del
ENST00000462499.5:n.259-3666_259-3635del
ENST00000464624.6:n.2355+81_2355+112del
ENST00000464788.5:n.67+2733_67+2764del
ENST00000464960.5:n.406+3128_406+3159del
ENST00000467227.5:n.123-3666_123-3635del
ENST00000467321.5:n.154+2900_154+2931del
ENST00000468895.5:n.50+3038_50+3069del
ENST00000469431.5:n.256+2540_256+2571del
ENST00000470512.5:n.210+2593_210+2624del
ENST00000472183.5:n.392-3666_392-3635del
ENST00000477931.5:n.254+2593_254+2624del
ENST00000478585.5:n.194+2593_194+2624del
ENST00000480232.5:n.155+2397_155+2428del
ENST00000480975.5:n.183+2593_183+2624del
ENST00000481039.5:n.56+3042_56+3073del
ENST00000481768.5:n.1324-3666_1324-3635del
ENST00000482112.5:n.259-3666_259-3635del
ENST00000484504.5:n.127+2593_127+2624del
ENST00000485673.5:n.426+2397_426+2428del
ENST00000488546.5:n.40+3128_40+3159del
ENST00000490374.5:n.255-3666_255-3635del
ENST00000491348.5:n.534-3666_534-3635del
ENST00000493744.5:n.233-3666_233-3635del
ENST00000604005.5:c.-39+2614_-39+2645del	ENSP00000474219.1:n.-39+2614_-39+2645del
NM_000516.4:c.139+81_139+112del	NP_000507.1:n.139+81_139+112del
NM_000516.5:c.139+81_139+112del	NP_000507.1:n.139+81_139+112del
NM_001077488.2:c.139+81_139+112del	NP_001070956.1:n.139+81_139+112del
NM_001077488.3:c.139+81_139+112del	NP_001070956.1:n.139+81_139+112del
NM_001077489.2:c.139+81_139+112del	NP_001070957.1:n.139+81_139+112del
NM_001077489.3:c.139+81_139+112del	NP_001070957.1:n.139+81_139+112del
NM_001077490.1:c.*1-3666_*1-3635del	NP_001070958.1:n.*1-3666_*1-3635del
NM_001077490.2:c.*1-3666_*1-3635del	NP_001070958.1:n.*1-3666_*1-3635del
NM_001309840.1:c.-39+2593_-39+2624del	NP_001296769.1:n.-39+2593_-39+2624del
NM_001309842.1:c.139+81_139+112del	NP_001296771.1:n.139+81_139+112del
NM_001309861.1:c.-38-3666_-38-3635del	NP_001296790.1:n.-38-3666_-38-3635del
NM_001309883.1:c.*159-3666_*159-3635del	NP_001296812.1:n.*159-3666_*159-3635del
NM_016592.2:c.*43-3666_*43-3635del	NP_057676.1:n.*43-3666_*43-3635del
NM_016592.3:c.*43-3666_*43-3635del	NP_057676.1:n.*43-3666_*43-3635del
NM_080425.2:c.2069-3666_2069-3635del	NP_536350.2:n.2069-3666_2069-3635del
NM_080425.3:c.2069-3666_2069-3635del	NP_536350.2:n.2069-3666_2069-3635del
NM_080426.2:c.139+81_139+112del	NP_536351.1:n.139+81_139+112del
NM_080426.3:c.139+81_139+112del	NP_536351.1:n.139+81_139+112del
NR_003259.1:c.-4294967067+2593_-4294967067+2624del
NR_132273.1:n.406+3128_406+3159del
XM_017027812.2:c.2069-3666_2069-3635del	XP_016883301.1:n.2069-3666_2069-3635del
XM_017027813.2:c.2069-3666_2069-3635del	XP_016883302.1:n.2069-3666_2069-3635del
XM_017027814.2:c.2069-3666_2069-3635del	XP_016883303.1:n.2069-3666_2069-3635del
XM_017027815.1:c.44-3666_44-3635del	XP_016883304.1:n.44-3666_44-3635del
XM_017027816.1:c.-166+81_-166+112del	XP_016883305.1:n.-166+81_-166+112del
XM_017027817.1:c.-39+2593_-39+2624del	XP_016883306.1:n.-39+2593_-39+2624del
XM_017027819.1:c.-39+2614_-39+2645del	XP_016883308.1:n.-39+2614_-39+2645del
XM_017027821.1:c.*43-3666_*43-3635del	XP_016883310.1:n.*43-3666_*43-3635del
XM_017027822.1:c.*43-3666_*43-3635del	XP_016883311.1:n.*43-3666_*43-3635del
XM_024451872.1:c.44-3666_44-3635del	XP_024307640.1:n.44-3666_44-3635del
XM_024451875.1:c.-39+2614_-39+2645del	XP_024307643.1:n.-39+2614_-39+2645del
XR_002958471.1:n.764+81_764+112del
NM_000516.6:c.139+81_139+112del	NP_000507.1:n.139+81_139+112del
NM_001077488.4:c.139+81_139+112del	NP_001070956.1:n.139+81_139+112del
NM_001077489.4:c.139+81_139+112del	NP_001070957.1:n.139+81_139+112del
NM_001309840.2:c.-39+2593_-39+2624del	NP_001296769.1:n.-39+2593_-39+2624del
NM_001309842.2:c.139+81_139+112del	NP_001296771.1:n.139+81_139+112del
NM_001309861.2:c.-38-3666_-38-3635del	NP_001296790.1:n.-38-3666_-38-3635del
NM_016592.4:c.*43-3666_*43-3635del	NP_057676.1:n.*43-3666_*43-3635del
NM_080426.4:c.139+81_139+112del	NP_536351.1:n.139+81_139+112del
NM_000516.7:c.139+81_139+112del MANE Select	NP_000507.1:n.139+81_139+112del
NM_001077488.5:c.139+81_139+112del	NP_001070956.1:n.139+81_139+112del
NM_001077490.3:c.*1-3666_*1-3635del	NP_001070958.1:n.*1-3666_*1-3635del
NM_016592.5:c.*43-3666_*43-3635del MANE Plus Clinical	NP_057676.1:n.*43-3666_*43-3635del
NM_080425.4:c.2069-3666_2069-3635del MANE Plus Clinical	NP_536350.2:n.2069-3666_2069-3635del