Canonical Allele Identifier: CA636225200

Gene: GNAS

Linked Data

• dbSNP Id: rs1447829238
• gnomAD v2: 20-57467203-TCTC-T
• gnomAD v3: 20-58892148-TCTC-T
• gnomAD v4: 20-58892148-TCTC-T
• MyVariant Identifiers: chr20:g.57467204_57467206del (hg19) ; chr20:g.58892149_58892151del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58892150_58892152del , CM000682.2:g.58892150_58892152del	GRCh38
NC_000020.10:g.57467205_57467207del , CM000682.1:g.57467205_57467207del	GRCh37
NC_000020.9:g.56900600_56900602del	NCBI36
NG_016194.1:g.57411_57413del
NG_016194.2:g.57411_57413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3462_2069-3460del	ENSP00000265621.6:n.2069-3462_2069-3460del
ENST00000419558.7:c.*43-3462_*43-3460del	ENSP00000416234.2:n.*43-3462_*43-3460del
ENST00000423897.7:c.2069-3462_2069-3460del	ENSP00000412356.2:n.2069-3462_2069-3460del
ENST00000453292.7:c.781-3462_781-3460del	ENSP00000392000.2:n.781-3462_781-3460del
ENST00000462499.6:c.-38-3462_-38-3460del	ENSP00000499758.2:n.-38-3462_-38-3460del
ENST00000464624.7:c.2160-3462_2160-3460del	ENSP00000499607.2:n.2160-3462_2160-3460del
ENST00000464788.6:c.-39+2937_-39+2939del	ENSP00000499239.2:n.-39+2937_-39+2939del
ENST00000467227.6:c.-38-3462_-38-3460del	ENSP00000499681.2:n.-38-3462_-38-3460del
ENST00000467321.6:c.-39+3104_-39+3106del	ENSP00000499523.2:n.-39+3104_-39+3106del
ENST00000468895.6:c.139+285_139+287del	ENSP00000499551.2:n.139+285_139+287del
ENST00000469431.6:c.-39+2744_-39+2746del	ENSP00000499654.2:n.-39+2744_-39+2746del
ENST00000470512.6:c.-39+2797_-39+2799del	ENSP00000499552.2:n.-39+2797_-39+2799del
ENST00000472183.6:c.-38-3462_-38-3460del	ENSP00000499673.2:n.-38-3462_-38-3460del
ENST00000476935.6:c.-98_-96del	ENSP00000499409.2:n.-98_-96del
ENST00000478585.6:c.-39+2797_-39+2799del	ENSP00000499762.2:n.-39+2797_-39+2799del
ENST00000480232.6:c.-39+2601_-39+2603del	ENSP00000499545.2:n.-39+2601_-39+2603del
ENST00000481039.6:c.-39+3242_-39+3244del	ENSP00000499767.2:n.-39+3242_-39+3244del
ENST00000482112.6:c.-38-3462_-38-3460del	ENSP00000499794.2:n.-38-3462_-38-3460del
ENST00000485673.6:c.-39+2601_-39+2603del	ENSP00000499334.2:n.-39+2601_-39+2603del
ENST00000488546.6:c.-39+3332_-39+3334del	ENSP00000499332.2:n.-39+3332_-39+3334del
ENST00000488652.6:c.-98_-96del	ENSP00000499435.2:n.-98_-96del
ENST00000492907.6:c.-98_-96del	ENSP00000499443.2:n.-98_-96del
ENST00000604005.6:c.-39+2818_-39+2820del	ENSP00000474219.2:n.-39+2818_-39+2820del
ENST00000663479.2:c.-38-3462_-38-3460del	ENSP00000499353.2:n.-38-3462_-38-3460del
ENST00000667293.2:c.-39+3246_-39+3248del	ENSP00000499293.2:n.-39+3246_-39+3248del
ENST00000676826.2:c.2069-3462_2069-3460del	ENSP00000504675.2:n.2069-3462_2069-3460del
ENST00000682803.1:c.-366+285_-366+287del	ENSP00000507069.1:n.-366+285_-366+287del
ENST00000683015.1:c.909+1361_909+1363del	ENSP00000506815.1:n.909+1361_909+1363del
ENST00000306090.12:c.44-3462_44-3460del	ENSP00000304472.12:n.44-3462_44-3460del
ENST00000338783.7:c.139+285_139+287del	ENSP00000345971.7:n.139+285_139+287del
ENST00000349036.8:c.2069-3462_2069-3460del	ENSP00000265621.5:n.2069-3462_2069-3460del
ENST00000354359.12:c.139+285_139+287del	ENSP00000346328.7:n.139+285_139+287del
ENST00000371085.8:c.139+285_139+287del MANE Select	ENSP00000360126.3:n.139+285_139+287del
ENST00000371100.9:c.2069-3462_2069-3460del MANE Plus Clinical	ENSP00000360141.3:n.2069-3462_2069-3460del
ENST00000419558.6:c.*43-3462_*43-3460del	ENSP00000416234.2:n.*43-3462_*43-3460del
ENST00000423897.6:c.2069-3462_2069-3460del	ENSP00000412356.2:n.2069-3462_2069-3460del
ENST00000453292.6:c.*43-3462_*43-3460del	ENSP00000392000.2:n.*43-3462_*43-3460del
ENST00000461152.6:c.909+1361_909+1363del	ENSP00000499274.1:n.909+1361_909+1363del
ENST00000481768.6:c.2227-3462_2227-3460del	ENSP00000499644.2:n.2227-3462_2227-3460del
ENST00000490374.6:n.223-3462_223-3460del
ENST00000657090.1:c.-38-3462_-38-3460del	ENSP00000499380.1:n.-38-3462_-38-3460del
ENST00000663479.1:c.-38-3462_-38-3460del	ENSP00000499353.1:n.-38-3462_-38-3460del
ENST00000667293.1:c.11-3462_11-3460del	ENSP00000499293.1:n.11-3462_11-3460del
ENST00000676826.1:c.2069-3462_2069-3460del	ENSP00000504675.1:n.2069-3462_2069-3460del
ENST00000265620.11:c.139+285_139+287del	ENSP00000265620.7:n.139+285_139+287del
ENST00000306090.11:c.93+331_93+333del	ENSP00000304472.11:n.93+331_93+333del
ENST00000313949.11:c.*43-3462_*43-3460del	ENSP00000323571.7:n.*43-3462_*43-3460del
ENST00000338783.6:c.106+285_106+287del	ENSP00000345971.6:n.106+285_106+287del
ENST00000349036.7:c.188-3462_188-3460del	ENSP00000265621.4:n.188-3462_188-3460del
ENST00000354359.11:c.139+285_139+287del	ENSP00000346328.7:n.139+285_139+287del
ENST00000371075.7:c.*43-3462_*43-3460del MANE Plus Clinical	ENSP00000360115.3:n.*43-3462_*43-3460del
ENST00000371081.5:c.139+285_139+287del	ENSP00000360122.1:n.139+285_139+287del
ENST00000371085.7:c.139+285_139+287del	ENSP00000360126.3:n.139+285_139+287del
ENST00000371095.7:c.139+285_139+287del	ENSP00000360136.3:n.139+285_139+287del
ENST00000371098.6:c.*43-3462_*43-3460del	ENSP00000360139.2:n.*43-3462_*43-3460del
ENST00000371100.8:c.2069-3462_2069-3460del	ENSP00000360141.3:n.2069-3462_2069-3460del
ENST00000371102.8:c.2069-3462_2069-3460del	ENSP00000360143.4:n.2069-3462_2069-3460del
ENST00000419558.5:c.384-3462_384-3460del
ENST00000423897.5:c.157-3462_157-3460del
ENST00000450130.5:c.228-3462_228-3460del
ENST00000453292.5:c.544-3462_544-3460del	ENSP00000392000.1:n.544-3462_544-3460del
ENST00000461152.5:n.147+1361_147+1363del
ENST00000462499.5:n.259-3462_259-3460del
ENST00000464624.6:n.2355+285_2355+287del
ENST00000464788.5:n.67+2937_67+2939del
ENST00000464960.5:n.406+3332_406+3334del
ENST00000467227.5:n.123-3462_123-3460del
ENST00000467321.5:n.154+3104_154+3106del
ENST00000468895.5:n.50+3242_50+3244del
ENST00000469431.5:n.256+2744_256+2746del
ENST00000470512.5:n.210+2797_210+2799del
ENST00000472183.5:n.392-3462_392-3460del
ENST00000476935.5:n.114_116del
ENST00000477931.5:n.254+2797_254+2799del
ENST00000478585.5:n.194+2797_194+2799del
ENST00000480232.5:n.155+2601_155+2603del
ENST00000480975.5:n.183+2797_183+2799del
ENST00000481039.5:n.56+3246_56+3248del
ENST00000481768.5:n.1324-3462_1324-3460del
ENST00000482112.5:n.259-3462_259-3460del
ENST00000484504.5:n.127+2797_127+2799del
ENST00000485673.5:n.426+2601_426+2603del
ENST00000488546.5:n.40+3332_40+3334del
ENST00000488652.5:n.170_172del
ENST00000490374.5:n.255-3462_255-3460del
ENST00000491348.5:n.534-3462_534-3460del
ENST00000492907.5:n.73_75del
ENST00000493744.5:n.233-3462_233-3460del
ENST00000604005.5:c.-39+2818_-39+2820del	ENSP00000474219.1:n.-39+2818_-39+2820del
NM_000516.4:c.139+285_139+287del	NP_000507.1:n.139+285_139+287del
NM_000516.5:c.139+285_139+287del	NP_000507.1:n.139+285_139+287del
NM_001077488.2:c.139+285_139+287del	NP_001070956.1:n.139+285_139+287del
NM_001077488.3:c.139+285_139+287del	NP_001070956.1:n.139+285_139+287del
NM_001077489.2:c.139+285_139+287del	NP_001070957.1:n.139+285_139+287del
NM_001077489.3:c.139+285_139+287del	NP_001070957.1:n.139+285_139+287del
NM_001077490.1:c.*1-3462_*1-3460del	NP_001070958.1:n.*1-3462_*1-3460del
NM_001077490.2:c.*1-3462_*1-3460del	NP_001070958.1:n.*1-3462_*1-3460del
NM_001309840.1:c.-39+2797_-39+2799del	NP_001296769.1:n.-39+2797_-39+2799del
NM_001309842.1:c.139+285_139+287del	NP_001296771.1:n.139+285_139+287del
NM_001309861.1:c.-38-3462_-38-3460del	NP_001296790.1:n.-38-3462_-38-3460del
NM_001309883.1:c.*159-3462_*159-3460del	NP_001296812.1:n.*159-3462_*159-3460del
NM_016592.2:c.*43-3462_*43-3460del	NP_057676.1:n.*43-3462_*43-3460del
NM_016592.3:c.*43-3462_*43-3460del	NP_057676.1:n.*43-3462_*43-3460del
NM_080425.2:c.2069-3462_2069-3460del	NP_536350.2:n.2069-3462_2069-3460del
NM_080425.3:c.2069-3462_2069-3460del	NP_536350.2:n.2069-3462_2069-3460del
NM_080426.2:c.139+285_139+287del	NP_536351.1:n.139+285_139+287del
NM_080426.3:c.139+285_139+287del	NP_536351.1:n.139+285_139+287del
NR_003259.1:c.-4294967067+2797_-4294967067+2799del
NR_132273.1:n.406+3332_406+3334del
XM_017027812.2:c.2069-3462_2069-3460del	XP_016883301.1:n.2069-3462_2069-3460del
XM_017027813.2:c.2069-3462_2069-3460del	XP_016883302.1:n.2069-3462_2069-3460del
XM_017027814.2:c.2069-3462_2069-3460del	XP_016883303.1:n.2069-3462_2069-3460del
XM_017027815.1:c.44-3462_44-3460del	XP_016883304.1:n.44-3462_44-3460del
XM_017027816.1:c.-166+285_-166+287del	XP_016883305.1:n.-166+285_-166+287del
XM_017027817.1:c.-39+2797_-39+2799del	XP_016883306.1:n.-39+2797_-39+2799del
XM_017027818.2:c.-98_-96del	XP_016883307.1:n.-98_-96del
XM_017027819.1:c.-39+2818_-39+2820del	XP_016883308.1:n.-39+2818_-39+2820del
XM_017027821.1:c.*43-3462_*43-3460del	XP_016883310.1:n.*43-3462_*43-3460del
XM_017027822.1:c.*43-3462_*43-3460del	XP_016883311.1:n.*43-3462_*43-3460del
XM_024451872.1:c.44-3462_44-3460del	XP_024307640.1:n.44-3462_44-3460del
XM_024451873.1:c.-98_-96del	XP_024307641.1:n.-98_-96del
XM_024451875.1:c.-39+2818_-39+2820del	XP_024307643.1:n.-39+2818_-39+2820del
XR_002958471.1:n.764+285_764+287del
NM_000516.6:c.139+285_139+287del	NP_000507.1:n.139+285_139+287del
NM_001077488.4:c.139+285_139+287del	NP_001070956.1:n.139+285_139+287del
NM_001077489.4:c.139+285_139+287del	NP_001070957.1:n.139+285_139+287del
NM_001309840.2:c.-39+2797_-39+2799del	NP_001296769.1:n.-39+2797_-39+2799del
NM_001309842.2:c.139+285_139+287del	NP_001296771.1:n.139+285_139+287del
NM_001309861.2:c.-38-3462_-38-3460del	NP_001296790.1:n.-38-3462_-38-3460del
NM_016592.4:c.*43-3462_*43-3460del	NP_057676.1:n.*43-3462_*43-3460del
NM_080426.4:c.139+285_139+287del	NP_536351.1:n.139+285_139+287del
NM_000516.7:c.139+285_139+287del MANE Select	NP_000507.1:n.139+285_139+287del
NM_001077488.5:c.139+285_139+287del	NP_001070956.1:n.139+285_139+287del
NM_001077490.3:c.*1-3462_*1-3460del	NP_001070958.1:n.*1-3462_*1-3460del
NM_016592.5:c.*43-3462_*43-3460del MANE Plus Clinical	NP_057676.1:n.*43-3462_*43-3460del
NM_080425.4:c.2069-3462_2069-3460del MANE Plus Clinical	NP_536350.2:n.2069-3462_2069-3460del