Canonical Allele Identifier: CA316320809
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs1040959282
gnomAD v3: 20-58891939-G-GCCCGCCC
gnomAD v4: 20-58891939-G-GCCCGCCC
MyVariant Identifiers: chr20:g.57466994_57466995insCCCGCCC (hg19) chr20:g.58891939_58891940insCCCGCCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891948_58891954dup , CM000682.2:g.58891948_58891954dup GRCh38
NC_000020.10:g.57467003_57467009dup , CM000682.1:g.57467003_57467009dup GRCh37
NC_000020.9:g.56900398_56900404dup NCBI36
NG_016194.1:g.57209_57215dup
NG_016194.2:g.57209_57215dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3664_2069-3658dup ENSP00000265621.6:n.2069-3664_2069-3658dup
ENST00000419558.7:c.*43-3664_*43-3658dup ENSP00000416234.2:n.*43-3664_*43-3658dup
ENST00000423897.7:c.2069-3664_2069-3658dup ENSP00000412356.2:n.2069-3664_2069-3658dup
ENST00000453292.7:c.781-3664_781-3658dup ENSP00000392000.2:n.781-3664_781-3658dup
ENST00000462499.6:c.-38-3664_-38-3658dup ENSP00000499758.2:n.-38-3664_-38-3658dup
ENST00000464624.7:c.2160-3664_2160-3658dup ENSP00000499607.2:n.2160-3664_2160-3658dup
ENST00000464788.6:c.-39+2735_-39+2741dup ENSP00000499239.2:n.-39+2735_-39+2741dup
ENST00000467227.6:c.-38-3664_-38-3658dup ENSP00000499681.2:n.-38-3664_-38-3658dup
ENST00000467321.6:c.-39+2902_-39+2908dup ENSP00000499523.2:n.-39+2902_-39+2908dup
ENST00000468895.6:c.139+83_139+89dup ENSP00000499551.2:n.139+83_139+89dup
ENST00000469431.6:c.-39+2542_-39+2548dup ENSP00000499654.2:n.-39+2542_-39+2548dup
ENST00000470512.6:c.-39+2595_-39+2601dup ENSP00000499552.2:n.-39+2595_-39+2601dup
ENST00000472183.6:c.-38-3664_-38-3658dup ENSP00000499673.2:n.-38-3664_-38-3658dup
ENST00000478585.6:c.-39+2595_-39+2601dup ENSP00000499762.2:n.-39+2595_-39+2601dup
ENST00000480232.6:c.-39+2399_-39+2405dup ENSP00000499545.2:n.-39+2399_-39+2405dup
ENST00000481039.6:c.-39+3040_-39+3046dup ENSP00000499767.2:n.-39+3040_-39+3046dup
ENST00000482112.6:c.-38-3664_-38-3658dup ENSP00000499794.2:n.-38-3664_-38-3658dup
ENST00000485673.6:c.-39+2399_-39+2405dup ENSP00000499334.2:n.-39+2399_-39+2405dup
ENST00000488546.6:c.-39+3130_-39+3136dup ENSP00000499332.2:n.-39+3130_-39+3136dup
ENST00000604005.6:c.-39+2616_-39+2622dup ENSP00000474219.2:n.-39+2616_-39+2622dup
ENST00000663479.2:c.-38-3664_-38-3658dup ENSP00000499353.2:n.-38-3664_-38-3658dup
ENST00000667293.2:c.-39+3044_-39+3050dup ENSP00000499293.2:n.-39+3044_-39+3050dup
ENST00000676826.2:c.2069-3664_2069-3658dup ENSP00000504675.2:n.2069-3664_2069-3658dup
ENST00000682803.1:c.-366+83_-366+89dup ENSP00000507069.1:n.-366+83_-366+89dup
ENST00000683015.1:c.909+1159_909+1165dup ENSP00000506815.1:n.909+1159_909+1165dup
ENST00000306090.12:c.44-3664_44-3658dup ENSP00000304472.12:n.44-3664_44-3658dup
ENST00000338783.7:c.139+83_139+89dup ENSP00000345971.7:n.139+83_139+89dup
ENST00000349036.8:c.2069-3664_2069-3658dup ENSP00000265621.5:n.2069-3664_2069-3658dup
ENST00000354359.12:c.139+83_139+89dup ENSP00000346328.7:n.139+83_139+89dup
ENST00000371085.8:c.139+83_139+89dup MANE Select ENSP00000360126.3:n.139+83_139+89dup
ENST00000371100.9:c.2069-3664_2069-3658dup MANE Plus Clinical ENSP00000360141.3:n.2069-3664_2069-3658dup
ENST00000419558.6:c.*43-3664_*43-3658dup ENSP00000416234.2:n.*43-3664_*43-3658dup
ENST00000423897.6:c.2069-3664_2069-3658dup ENSP00000412356.2:n.2069-3664_2069-3658dup
ENST00000453292.6:c.*43-3664_*43-3658dup ENSP00000392000.2:n.*43-3664_*43-3658dup
ENST00000461152.6:c.909+1159_909+1165dup ENSP00000499274.1:n.909+1159_909+1165dup
ENST00000481768.6:c.2227-3664_2227-3658dup ENSP00000499644.2:n.2227-3664_2227-3658dup
ENST00000490374.6:n.223-3664_223-3658dup
ENST00000657090.1:c.-38-3664_-38-3658dup ENSP00000499380.1:n.-38-3664_-38-3658dup
ENST00000663479.1:c.-38-3664_-38-3658dup ENSP00000499353.1:n.-38-3664_-38-3658dup
ENST00000667293.1:c.11-3664_11-3658dup ENSP00000499293.1:n.11-3664_11-3658dup
ENST00000676826.1:c.2069-3664_2069-3658dup ENSP00000504675.1:n.2069-3664_2069-3658dup
ENST00000265620.11:c.139+83_139+89dup ENSP00000265620.7:n.139+83_139+89dup
ENST00000306090.11:c.93+129_93+135dup ENSP00000304472.11:n.93+129_93+135dup
ENST00000313949.11:c.*43-3664_*43-3658dup ENSP00000323571.7:n.*43-3664_*43-3658dup
ENST00000338783.6:c.106+83_106+89dup ENSP00000345971.6:n.106+83_106+89dup
ENST00000349036.7:c.188-3664_188-3658dup ENSP00000265621.4:n.188-3664_188-3658dup
ENST00000354359.11:c.139+83_139+89dup ENSP00000346328.7:n.139+83_139+89dup
ENST00000371075.7:c.*43-3664_*43-3658dup MANE Plus Clinical ENSP00000360115.3:n.*43-3664_*43-3658dup
ENST00000371081.5:c.139+83_139+89dup ENSP00000360122.1:n.139+83_139+89dup
ENST00000371085.7:c.139+83_139+89dup ENSP00000360126.3:n.139+83_139+89dup
ENST00000371095.7:c.139+83_139+89dup ENSP00000360136.3:n.139+83_139+89dup
ENST00000371098.6:c.*43-3664_*43-3658dup ENSP00000360139.2:n.*43-3664_*43-3658dup
ENST00000371100.8:c.2069-3664_2069-3658dup ENSP00000360141.3:n.2069-3664_2069-3658dup
ENST00000371102.8:c.2069-3664_2069-3658dup ENSP00000360143.4:n.2069-3664_2069-3658dup
ENST00000419558.5:c.384-3664_384-3658dup
ENST00000423897.5:c.157-3664_157-3658dup
ENST00000450130.5:c.228-3664_228-3658dup
ENST00000453292.5:c.544-3664_544-3658dup ENSP00000392000.1:n.544-3664_544-3658dup
ENST00000461152.5:n.147+1159_147+1165dup
ENST00000462499.5:n.259-3664_259-3658dup
ENST00000464624.6:n.2355+83_2355+89dup
ENST00000464788.5:n.67+2735_67+2741dup
ENST00000464960.5:n.406+3130_406+3136dup
ENST00000467227.5:n.123-3664_123-3658dup
ENST00000467321.5:n.154+2902_154+2908dup
ENST00000468895.5:n.50+3040_50+3046dup
ENST00000469431.5:n.256+2542_256+2548dup
ENST00000470512.5:n.210+2595_210+2601dup
ENST00000472183.5:n.392-3664_392-3658dup
ENST00000477931.5:n.254+2595_254+2601dup
ENST00000478585.5:n.194+2595_194+2601dup
ENST00000480232.5:n.155+2399_155+2405dup
ENST00000480975.5:n.183+2595_183+2601dup
ENST00000481039.5:n.56+3044_56+3050dup
ENST00000481768.5:n.1324-3664_1324-3658dup
ENST00000482112.5:n.259-3664_259-3658dup
ENST00000484504.5:n.127+2595_127+2601dup
ENST00000485673.5:n.426+2399_426+2405dup
ENST00000488546.5:n.40+3130_40+3136dup
ENST00000490374.5:n.255-3664_255-3658dup
ENST00000491348.5:n.534-3664_534-3658dup
ENST00000493744.5:n.233-3664_233-3658dup
ENST00000604005.5:c.-39+2616_-39+2622dup ENSP00000474219.1:n.-39+2616_-39+2622dup
NM_000516.4:c.139+83_139+89dup NP_000507.1:n.139+83_139+89dup
NM_000516.5:c.139+83_139+89dup NP_000507.1:n.139+83_139+89dup
NM_001077488.2:c.139+83_139+89dup NP_001070956.1:n.139+83_139+89dup
NM_001077488.3:c.139+83_139+89dup NP_001070956.1:n.139+83_139+89dup
NM_001077489.2:c.139+83_139+89dup NP_001070957.1:n.139+83_139+89dup
NM_001077489.3:c.139+83_139+89dup NP_001070957.1:n.139+83_139+89dup
NM_001077490.1:c.*1-3664_*1-3658dup NP_001070958.1:n.*1-3664_*1-3658dup
NM_001077490.2:c.*1-3664_*1-3658dup NP_001070958.1:n.*1-3664_*1-3658dup
NM_001309840.1:c.-39+2595_-39+2601dup NP_001296769.1:n.-39+2595_-39+2601dup
NM_001309842.1:c.139+83_139+89dup NP_001296771.1:n.139+83_139+89dup
NM_001309861.1:c.-38-3664_-38-3658dup NP_001296790.1:n.-38-3664_-38-3658dup
NM_001309883.1:c.*159-3664_*159-3658dup NP_001296812.1:n.*159-3664_*159-3658dup
NM_016592.2:c.*43-3664_*43-3658dup NP_057676.1:n.*43-3664_*43-3658dup
NM_016592.3:c.*43-3664_*43-3658dup NP_057676.1:n.*43-3664_*43-3658dup
NM_080425.2:c.2069-3664_2069-3658dup NP_536350.2:n.2069-3664_2069-3658dup
NM_080425.3:c.2069-3664_2069-3658dup NP_536350.2:n.2069-3664_2069-3658dup
NM_080426.2:c.139+83_139+89dup NP_536351.1:n.139+83_139+89dup
NM_080426.3:c.139+83_139+89dup NP_536351.1:n.139+83_139+89dup
NR_003259.1:c.-4294967067+2595_-4294967067+2601dup
NR_132273.1:n.406+3130_406+3136dup
XM_017027812.2:c.2069-3664_2069-3658dup XP_016883301.1:n.2069-3664_2069-3658dup
XM_017027813.2:c.2069-3664_2069-3658dup XP_016883302.1:n.2069-3664_2069-3658dup
XM_017027814.2:c.2069-3664_2069-3658dup XP_016883303.1:n.2069-3664_2069-3658dup
XM_017027815.1:c.44-3664_44-3658dup XP_016883304.1:n.44-3664_44-3658dup
XM_017027816.1:c.-166+83_-166+89dup XP_016883305.1:n.-166+83_-166+89dup
XM_017027817.1:c.-39+2595_-39+2601dup XP_016883306.1:n.-39+2595_-39+2601dup
XM_017027819.1:c.-39+2616_-39+2622dup XP_016883308.1:n.-39+2616_-39+2622dup
XM_017027821.1:c.*43-3664_*43-3658dup XP_016883310.1:n.*43-3664_*43-3658dup
XM_017027822.1:c.*43-3664_*43-3658dup XP_016883311.1:n.*43-3664_*43-3658dup
XM_024451872.1:c.44-3664_44-3658dup XP_024307640.1:n.44-3664_44-3658dup
XM_024451875.1:c.-39+2616_-39+2622dup XP_024307643.1:n.-39+2616_-39+2622dup
XR_002958471.1:n.764+83_764+89dup
NM_000516.6:c.139+83_139+89dup NP_000507.1:n.139+83_139+89dup
NM_001077488.4:c.139+83_139+89dup NP_001070956.1:n.139+83_139+89dup
NM_001077489.4:c.139+83_139+89dup NP_001070957.1:n.139+83_139+89dup
NM_001309840.2:c.-39+2595_-39+2601dup NP_001296769.1:n.-39+2595_-39+2601dup
NM_001309842.2:c.139+83_139+89dup NP_001296771.1:n.139+83_139+89dup
NM_001309861.2:c.-38-3664_-38-3658dup NP_001296790.1:n.-38-3664_-38-3658dup
NM_016592.4:c.*43-3664_*43-3658dup NP_057676.1:n.*43-3664_*43-3658dup
NM_080426.4:c.139+83_139+89dup NP_536351.1:n.139+83_139+89dup
NM_000516.7:c.139+83_139+89dup MANE Select NP_000507.1:n.139+83_139+89dup
NM_001077488.5:c.139+83_139+89dup NP_001070956.1:n.139+83_139+89dup
NM_001077490.3:c.*1-3664_*1-3658dup NP_001070958.1:n.*1-3664_*1-3658dup
NM_016592.5:c.*43-3664_*43-3658dup MANE Plus Clinical NP_057676.1:n.*43-3664_*43-3658dup
NM_080425.4:c.2069-3664_2069-3658dup MANE Plus Clinical NP_536350.2:n.2069-3664_2069-3658dup
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