Canonical Allele Identifier: CA636225157

Gene: GNAS

Linked Data

• dbSNP Id: rs1449055289
• gnomAD v2: 20-57467047-T-TTCGG
• gnomAD v3: 20-58891992-T-TTCGG
• gnomAD v4: 20-58891992-T-TTCGG
• MyVariant Identifiers: chr20:g.57467047_57467048insTCGG (hg19) ; chr20:g.58891992_58891993insTCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891992_58891993insTCGG , CM000682.2:g.58891992_58891993insTCGG	GRCh38
NC_000020.10:g.57467047_57467048insTCGG , CM000682.1:g.57467047_57467048insTCGG	GRCh37
NC_000020.9:g.56900442_56900443insTCGG	NCBI36
NG_016194.1:g.57253_57254insTCGG
NG_016194.2:g.57253_57254insTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3620_2069-3619insTCGG	ENSP00000265621.6:n.2069-3620_2069-3619insTCGG
ENST00000419558.7:c.*43-3620_*43-3619insTCGG	ENSP00000416234.2:n.*43-3620_*43-3619insTCGG
ENST00000423897.7:c.2069-3620_2069-3619insTCGG	ENSP00000412356.2:n.2069-3620_2069-3619insTCGG
ENST00000453292.7:c.781-3620_781-3619insTCGG	ENSP00000392000.2:n.781-3620_781-3619insTCGG
ENST00000462499.6:c.-38-3620_-38-3619insTCGG	ENSP00000499758.2:n.-38-3620_-38-3619insTCGG
ENST00000464624.7:c.2160-3620_2160-3619insTCGG	ENSP00000499607.2:n.2160-3620_2160-3619insTCGG
ENST00000464788.6:c.-39+2779_-39+2780insTCGG	ENSP00000499239.2:n.-39+2779_-39+2780insTCGG
ENST00000467227.6:c.-38-3620_-38-3619insTCGG	ENSP00000499681.2:n.-38-3620_-38-3619insTCGG
ENST00000467321.6:c.-39+2946_-39+2947insTCGG	ENSP00000499523.2:n.-39+2946_-39+2947insTCGG
ENST00000468895.6:c.139+127_139+128insTCGG	ENSP00000499551.2:n.139+127_139+128insTCGG
ENST00000469431.6:c.-39+2586_-39+2587insTCGG	ENSP00000499654.2:n.-39+2586_-39+2587insTCGG
ENST00000470512.6:c.-39+2639_-39+2640insTCGG	ENSP00000499552.2:n.-39+2639_-39+2640insTCGG
ENST00000472183.6:c.-38-3620_-38-3619insTCGG	ENSP00000499673.2:n.-38-3620_-38-3619insTCGG
ENST00000478585.6:c.-39+2639_-39+2640insTCGG	ENSP00000499762.2:n.-39+2639_-39+2640insTCGG
ENST00000480232.6:c.-39+2443_-39+2444insTCGG	ENSP00000499545.2:n.-39+2443_-39+2444insTCGG
ENST00000481039.6:c.-39+3084_-39+3085insTCGG	ENSP00000499767.2:n.-39+3084_-39+3085insTCGG
ENST00000482112.6:c.-38-3620_-38-3619insTCGG	ENSP00000499794.2:n.-38-3620_-38-3619insTCGG
ENST00000485673.6:c.-39+2443_-39+2444insTCGG	ENSP00000499334.2:n.-39+2443_-39+2444insTCGG
ENST00000488546.6:c.-39+3174_-39+3175insTCGG	ENSP00000499332.2:n.-39+3174_-39+3175insTCGG
ENST00000488652.6:c.-256_-255insTCGG	ENSP00000499435.2:n.-256_-255insTCGG
ENST00000604005.6:c.-39+2660_-39+2661insTCGG	ENSP00000474219.2:n.-39+2660_-39+2661insTCGG
ENST00000663479.2:c.-38-3620_-38-3619insTCGG	ENSP00000499353.2:n.-38-3620_-38-3619insTCGG
ENST00000667293.2:c.-39+3088_-39+3089insTCGG	ENSP00000499293.2:n.-39+3088_-39+3089insTCGG
ENST00000676826.2:c.2069-3620_2069-3619insTCGG	ENSP00000504675.2:n.2069-3620_2069-3619insTCGG
ENST00000682803.1:c.-366+127_-366+128insTCGG	ENSP00000507069.1:n.-366+127_-366+128insTCGG
ENST00000683015.1:c.909+1203_909+1204insTCGG	ENSP00000506815.1:n.909+1203_909+1204insTCGG
ENST00000306090.12:c.44-3620_44-3619insTCGG	ENSP00000304472.12:n.44-3620_44-3619insTCGG
ENST00000338783.7:c.139+127_139+128insTCGG	ENSP00000345971.7:n.139+127_139+128insTCGG
ENST00000349036.8:c.2069-3620_2069-3619insTCGG	ENSP00000265621.5:n.2069-3620_2069-3619insTCGG
ENST00000354359.12:c.139+127_139+128insTCGG	ENSP00000346328.7:n.139+127_139+128insTCGG
ENST00000371085.8:c.139+127_139+128insTCGG MANE Select	ENSP00000360126.3:n.139+127_139+128insTCGG
ENST00000371100.9:c.2069-3620_2069-3619insTCGG MANE Plus Clinical	ENSP00000360141.3:n.2069-3620_2069-3619insTCGG
ENST00000419558.6:c.*43-3620_*43-3619insTCGG	ENSP00000416234.2:n.*43-3620_*43-3619insTCGG
ENST00000423897.6:c.2069-3620_2069-3619insTCGG	ENSP00000412356.2:n.2069-3620_2069-3619insTCGG
ENST00000453292.6:c.*43-3620_*43-3619insTCGG	ENSP00000392000.2:n.*43-3620_*43-3619insTCGG
ENST00000461152.6:c.909+1203_909+1204insTCGG	ENSP00000499274.1:n.909+1203_909+1204insTCGG
ENST00000481768.6:c.2227-3620_2227-3619insTCGG	ENSP00000499644.2:n.2227-3620_2227-3619insTCGG
ENST00000490374.6:n.223-3620_223-3619insTCGG
ENST00000657090.1:c.-38-3620_-38-3619insTCGG	ENSP00000499380.1:n.-38-3620_-38-3619insTCGG
ENST00000663479.1:c.-38-3620_-38-3619insTCGG	ENSP00000499353.1:n.-38-3620_-38-3619insTCGG
ENST00000667293.1:c.11-3620_11-3619insTCGG	ENSP00000499293.1:n.11-3620_11-3619insTCGG
ENST00000676826.1:c.2069-3620_2069-3619insTCGG	ENSP00000504675.1:n.2069-3620_2069-3619insTCGG
ENST00000265620.11:c.139+127_139+128insTCGG	ENSP00000265620.7:n.139+127_139+128insTCGG
ENST00000306090.11:c.93+173_93+174insTCGG	ENSP00000304472.11:n.93+173_93+174insTCGG
ENST00000313949.11:c.*43-3620_*43-3619insTCGG	ENSP00000323571.7:n.*43-3620_*43-3619insTCGG
ENST00000338783.6:c.106+127_106+128insTCGG	ENSP00000345971.6:n.106+127_106+128insTCGG
ENST00000349036.7:c.188-3620_188-3619insTCGG	ENSP00000265621.4:n.188-3620_188-3619insTCGG
ENST00000354359.11:c.139+127_139+128insTCGG	ENSP00000346328.7:n.139+127_139+128insTCGG
ENST00000371075.7:c.*43-3620_*43-3619insTCGG MANE Plus Clinical	ENSP00000360115.3:n.*43-3620_*43-3619insTCGG
ENST00000371081.5:c.139+127_139+128insTCGG	ENSP00000360122.1:n.139+127_139+128insTCGG
ENST00000371085.7:c.139+127_139+128insTCGG	ENSP00000360126.3:n.139+127_139+128insTCGG
ENST00000371095.7:c.139+127_139+128insTCGG	ENSP00000360136.3:n.139+127_139+128insTCGG
ENST00000371098.6:c.*43-3620_*43-3619insTCGG	ENSP00000360139.2:n.*43-3620_*43-3619insTCGG
ENST00000371100.8:c.2069-3620_2069-3619insTCGG	ENSP00000360141.3:n.2069-3620_2069-3619insTCGG
ENST00000371102.8:c.2069-3620_2069-3619insTCGG	ENSP00000360143.4:n.2069-3620_2069-3619insTCGG
ENST00000419558.5:c.384-3620_384-3619insTCGG
ENST00000423897.5:c.157-3620_157-3619insTCGG
ENST00000450130.5:c.228-3620_228-3619insTCGG
ENST00000453292.5:c.544-3620_544-3619insTCGG	ENSP00000392000.1:n.544-3620_544-3619insTCGG
ENST00000461152.5:n.147+1203_147+1204insTCGG
ENST00000462499.5:n.259-3620_259-3619insTCGG
ENST00000464624.6:n.2355+127_2355+128insTCGG
ENST00000464788.5:n.67+2779_67+2780insTCGG
ENST00000464960.5:n.406+3174_406+3175insTCGG
ENST00000467227.5:n.123-3620_123-3619insTCGG
ENST00000467321.5:n.154+2946_154+2947insTCGG
ENST00000468895.5:n.50+3084_50+3085insTCGG
ENST00000469431.5:n.256+2586_256+2587insTCGG
ENST00000470512.5:n.210+2639_210+2640insTCGG
ENST00000472183.5:n.392-3620_392-3619insTCGG
ENST00000477931.5:n.254+2639_254+2640insTCGG
ENST00000478585.5:n.194+2639_194+2640insTCGG
ENST00000480232.5:n.155+2443_155+2444insTCGG
ENST00000480975.5:n.183+2639_183+2640insTCGG
ENST00000481039.5:n.56+3088_56+3089insTCGG
ENST00000481768.5:n.1324-3620_1324-3619insTCGG
ENST00000482112.5:n.259-3620_259-3619insTCGG
ENST00000484504.5:n.127+2639_127+2640insTCGG
ENST00000485673.5:n.426+2443_426+2444insTCGG
ENST00000488546.5:n.40+3174_40+3175insTCGG
ENST00000488652.5:n.12_13insTCGG
ENST00000490374.5:n.255-3620_255-3619insTCGG
ENST00000491348.5:n.534-3620_534-3619insTCGG
ENST00000493744.5:n.233-3620_233-3619insTCGG
ENST00000604005.5:c.-39+2660_-39+2661insTCGG	ENSP00000474219.1:n.-39+2660_-39+2661insTCGG
NM_000516.4:c.139+127_139+128insTCGG	NP_000507.1:n.139+127_139+128insTCGG
NM_000516.5:c.139+127_139+128insTCGG	NP_000507.1:n.139+127_139+128insTCGG
NM_001077488.2:c.139+127_139+128insTCGG	NP_001070956.1:n.139+127_139+128insTCGG
NM_001077488.3:c.139+127_139+128insTCGG	NP_001070956.1:n.139+127_139+128insTCGG
NM_001077489.2:c.139+127_139+128insTCGG	NP_001070957.1:n.139+127_139+128insTCGG
NM_001077489.3:c.139+127_139+128insTCGG	NP_001070957.1:n.139+127_139+128insTCGG
NM_001077490.1:c.*1-3620_*1-3619insTCGG	NP_001070958.1:n.*1-3620_*1-3619insTCGG
NM_001077490.2:c.*1-3620_*1-3619insTCGG	NP_001070958.1:n.*1-3620_*1-3619insTCGG
NM_001309840.1:c.-39+2639_-39+2640insTCGG	NP_001296769.1:n.-39+2639_-39+2640insTCGG
NM_001309842.1:c.139+127_139+128insTCGG	NP_001296771.1:n.139+127_139+128insTCGG
NM_001309861.1:c.-38-3620_-38-3619insTCGG	NP_001296790.1:n.-38-3620_-38-3619insTCGG
NM_001309883.1:c.*159-3620_*159-3619insTCGG	NP_001296812.1:n.*159-3620_*159-3619insTCGG
NM_016592.2:c.*43-3620_*43-3619insTCGG	NP_057676.1:n.*43-3620_*43-3619insTCGG
NM_016592.3:c.*43-3620_*43-3619insTCGG	NP_057676.1:n.*43-3620_*43-3619insTCGG
NM_080425.2:c.2069-3620_2069-3619insTCGG	NP_536350.2:n.2069-3620_2069-3619insTCGG
NM_080425.3:c.2069-3620_2069-3619insTCGG	NP_536350.2:n.2069-3620_2069-3619insTCGG
NM_080426.2:c.139+127_139+128insTCGG	NP_536351.1:n.139+127_139+128insTCGG
NM_080426.3:c.139+127_139+128insTCGG	NP_536351.1:n.139+127_139+128insTCGG
NR_003259.1:c.-4294967067+2639_-4294967067+2640insTCGG
NR_132273.1:n.406+3174_406+3175insTCGG
XM_017027812.2:c.2069-3620_2069-3619insTCGG	XP_016883301.1:n.2069-3620_2069-3619insTCGG
XM_017027813.2:c.2069-3620_2069-3619insTCGG	XP_016883302.1:n.2069-3620_2069-3619insTCGG
XM_017027814.2:c.2069-3620_2069-3619insTCGG	XP_016883303.1:n.2069-3620_2069-3619insTCGG
XM_017027815.1:c.44-3620_44-3619insTCGG	XP_016883304.1:n.44-3620_44-3619insTCGG
XM_017027816.1:c.-166+127_-166+128insTCGG	XP_016883305.1:n.-166+127_-166+128insTCGG
XM_017027817.1:c.-39+2639_-39+2640insTCGG	XP_016883306.1:n.-39+2639_-39+2640insTCGG
XM_017027819.1:c.-39+2660_-39+2661insTCGG	XP_016883308.1:n.-39+2660_-39+2661insTCGG
XM_017027821.1:c.*43-3620_*43-3619insTCGG	XP_016883310.1:n.*43-3620_*43-3619insTCGG
XM_017027822.1:c.*43-3620_*43-3619insTCGG	XP_016883311.1:n.*43-3620_*43-3619insTCGG
XM_024451872.1:c.44-3620_44-3619insTCGG	XP_024307640.1:n.44-3620_44-3619insTCGG
XM_024451875.1:c.-39+2660_-39+2661insTCGG	XP_024307643.1:n.-39+2660_-39+2661insTCGG
XR_002958471.1:n.764+127_764+128insTCGG
NM_000516.6:c.139+127_139+128insTCGG	NP_000507.1:n.139+127_139+128insTCGG
NM_001077488.4:c.139+127_139+128insTCGG	NP_001070956.1:n.139+127_139+128insTCGG
NM_001077489.4:c.139+127_139+128insTCGG	NP_001070957.1:n.139+127_139+128insTCGG
NM_001309840.2:c.-39+2639_-39+2640insTCGG	NP_001296769.1:n.-39+2639_-39+2640insTCGG
NM_001309842.2:c.139+127_139+128insTCGG	NP_001296771.1:n.139+127_139+128insTCGG
NM_001309861.2:c.-38-3620_-38-3619insTCGG	NP_001296790.1:n.-38-3620_-38-3619insTCGG
NM_016592.4:c.*43-3620_*43-3619insTCGG	NP_057676.1:n.*43-3620_*43-3619insTCGG
NM_080426.4:c.139+127_139+128insTCGG	NP_536351.1:n.139+127_139+128insTCGG
NM_000516.7:c.139+127_139+128insTCGG MANE Select	NP_000507.1:n.139+127_139+128insTCGG
NM_001077488.5:c.139+127_139+128insTCGG	NP_001070956.1:n.139+127_139+128insTCGG
NM_001077490.3:c.*1-3620_*1-3619insTCGG	NP_001070958.1:n.*1-3620_*1-3619insTCGG
NM_016592.5:c.*43-3620_*43-3619insTCGG MANE Plus Clinical	NP_057676.1:n.*43-3620_*43-3619insTCGG
NM_080425.4:c.2069-3620_2069-3619insTCGG MANE Plus Clinical	NP_536350.2:n.2069-3620_2069-3619insTCGG