Canonical Allele Identifier: CA316320976
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs907017474
gnomAD v3: 20-58892123-G-GTC
gnomAD v4: 20-58892123-G-GTC
MyVariant Identifiers: chr20:g.57467178_57467179insTC (hg19) chr20:g.58892123_58892124insTC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58892131_58892132dup , CM000682.2:g.58892131_58892132dup GRCh38
NC_000020.10:g.57467186_57467187dup , CM000682.1:g.57467186_57467187dup GRCh37
NC_000020.9:g.56900581_56900582dup NCBI36
NG_016194.1:g.57392_57393dup
NG_016194.2:g.57392_57393dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3481_2069-3480dup ENSP00000265621.6:n.2069-3481_2069-3480dup
ENST00000419558.7:c.*43-3481_*43-3480dup ENSP00000416234.2:n.*43-3481_*43-3480dup
ENST00000423897.7:c.2069-3481_2069-3480dup ENSP00000412356.2:n.2069-3481_2069-3480dup
ENST00000453292.7:c.781-3481_781-3480dup ENSP00000392000.2:n.781-3481_781-3480dup
ENST00000462499.6:c.-38-3481_-38-3480dup ENSP00000499758.2:n.-38-3481_-38-3480dup
ENST00000464624.7:c.2160-3481_2160-3480dup ENSP00000499607.2:n.2160-3481_2160-3480dup
ENST00000464788.6:c.-39+2918_-39+2919dup ENSP00000499239.2:n.-39+2918_-39+2919dup
ENST00000467227.6:c.-38-3481_-38-3480dup ENSP00000499681.2:n.-38-3481_-38-3480dup
ENST00000467321.6:c.-39+3085_-39+3086dup ENSP00000499523.2:n.-39+3085_-39+3086dup
ENST00000468895.6:c.139+266_139+267dup ENSP00000499551.2:n.139+266_139+267dup
ENST00000469431.6:c.-39+2725_-39+2726dup ENSP00000499654.2:n.-39+2725_-39+2726dup
ENST00000470512.6:c.-39+2778_-39+2779dup ENSP00000499552.2:n.-39+2778_-39+2779dup
ENST00000472183.6:c.-38-3481_-38-3480dup ENSP00000499673.2:n.-38-3481_-38-3480dup
ENST00000476935.6:c.-117_-116dup ENSP00000499409.2:n.-117_-116dup
ENST00000478585.6:c.-39+2778_-39+2779dup ENSP00000499762.2:n.-39+2778_-39+2779dup
ENST00000480232.6:c.-39+2582_-39+2583dup ENSP00000499545.2:n.-39+2582_-39+2583dup
ENST00000481039.6:c.-39+3223_-39+3224dup ENSP00000499767.2:n.-39+3223_-39+3224dup
ENST00000482112.6:c.-38-3481_-38-3480dup ENSP00000499794.2:n.-38-3481_-38-3480dup
ENST00000485673.6:c.-39+2582_-39+2583dup ENSP00000499334.2:n.-39+2582_-39+2583dup
ENST00000488546.6:c.-39+3313_-39+3314dup ENSP00000499332.2:n.-39+3313_-39+3314dup
ENST00000488652.6:c.-117_-116dup ENSP00000499435.2:n.-117_-116dup
ENST00000492907.6:c.-117_-116dup ENSP00000499443.2:n.-117_-116dup
ENST00000604005.6:c.-39+2799_-39+2800dup ENSP00000474219.2:n.-39+2799_-39+2800dup
ENST00000663479.2:c.-38-3481_-38-3480dup ENSP00000499353.2:n.-38-3481_-38-3480dup
ENST00000667293.2:c.-39+3227_-39+3228dup ENSP00000499293.2:n.-39+3227_-39+3228dup
ENST00000676826.2:c.2069-3481_2069-3480dup ENSP00000504675.2:n.2069-3481_2069-3480dup
ENST00000682803.1:c.-366+266_-366+267dup ENSP00000507069.1:n.-366+266_-366+267dup
ENST00000683015.1:c.909+1342_909+1343dup ENSP00000506815.1:n.909+1342_909+1343dup
ENST00000306090.12:c.44-3481_44-3480dup ENSP00000304472.12:n.44-3481_44-3480dup
ENST00000338783.7:c.139+266_139+267dup ENSP00000345971.7:n.139+266_139+267dup
ENST00000349036.8:c.2069-3481_2069-3480dup ENSP00000265621.5:n.2069-3481_2069-3480dup
ENST00000354359.12:c.139+266_139+267dup ENSP00000346328.7:n.139+266_139+267dup
ENST00000371085.8:c.139+266_139+267dup MANE Select ENSP00000360126.3:n.139+266_139+267dup
ENST00000371100.9:c.2069-3481_2069-3480dup MANE Plus Clinical ENSP00000360141.3:n.2069-3481_2069-3480dup
ENST00000419558.6:c.*43-3481_*43-3480dup ENSP00000416234.2:n.*43-3481_*43-3480dup
ENST00000423897.6:c.2069-3481_2069-3480dup ENSP00000412356.2:n.2069-3481_2069-3480dup
ENST00000453292.6:c.*43-3481_*43-3480dup ENSP00000392000.2:n.*43-3481_*43-3480dup
ENST00000461152.6:c.909+1342_909+1343dup ENSP00000499274.1:n.909+1342_909+1343dup
ENST00000481768.6:c.2227-3481_2227-3480dup ENSP00000499644.2:n.2227-3481_2227-3480dup
ENST00000490374.6:n.223-3481_223-3480dup
ENST00000657090.1:c.-38-3481_-38-3480dup ENSP00000499380.1:n.-38-3481_-38-3480dup
ENST00000663479.1:c.-38-3481_-38-3480dup ENSP00000499353.1:n.-38-3481_-38-3480dup
ENST00000667293.1:c.11-3481_11-3480dup ENSP00000499293.1:n.11-3481_11-3480dup
ENST00000676826.1:c.2069-3481_2069-3480dup ENSP00000504675.1:n.2069-3481_2069-3480dup
ENST00000265620.11:c.139+266_139+267dup ENSP00000265620.7:n.139+266_139+267dup
ENST00000306090.11:c.93+312_93+313dup ENSP00000304472.11:n.93+312_93+313dup
ENST00000313949.11:c.*43-3481_*43-3480dup ENSP00000323571.7:n.*43-3481_*43-3480dup
ENST00000338783.6:c.106+266_106+267dup ENSP00000345971.6:n.106+266_106+267dup
ENST00000349036.7:c.188-3481_188-3480dup ENSP00000265621.4:n.188-3481_188-3480dup
ENST00000354359.11:c.139+266_139+267dup ENSP00000346328.7:n.139+266_139+267dup
ENST00000371075.7:c.*43-3481_*43-3480dup MANE Plus Clinical ENSP00000360115.3:n.*43-3481_*43-3480dup
ENST00000371081.5:c.139+266_139+267dup ENSP00000360122.1:n.139+266_139+267dup
ENST00000371085.7:c.139+266_139+267dup ENSP00000360126.3:n.139+266_139+267dup
ENST00000371095.7:c.139+266_139+267dup ENSP00000360136.3:n.139+266_139+267dup
ENST00000371098.6:c.*43-3481_*43-3480dup ENSP00000360139.2:n.*43-3481_*43-3480dup
ENST00000371100.8:c.2069-3481_2069-3480dup ENSP00000360141.3:n.2069-3481_2069-3480dup
ENST00000371102.8:c.2069-3481_2069-3480dup ENSP00000360143.4:n.2069-3481_2069-3480dup
ENST00000419558.5:c.384-3481_384-3480dup
ENST00000423897.5:c.157-3481_157-3480dup
ENST00000450130.5:c.228-3481_228-3480dup
ENST00000453292.5:c.544-3481_544-3480dup ENSP00000392000.1:n.544-3481_544-3480dup
ENST00000461152.5:n.147+1342_147+1343dup
ENST00000462499.5:n.259-3481_259-3480dup
ENST00000464624.6:n.2355+266_2355+267dup
ENST00000464788.5:n.67+2918_67+2919dup
ENST00000464960.5:n.406+3313_406+3314dup
ENST00000467227.5:n.123-3481_123-3480dup
ENST00000467321.5:n.154+3085_154+3086dup
ENST00000468895.5:n.50+3223_50+3224dup
ENST00000469431.5:n.256+2725_256+2726dup
ENST00000470512.5:n.210+2778_210+2779dup
ENST00000472183.5:n.392-3481_392-3480dup
ENST00000476935.5:n.95_96dup
ENST00000477931.5:n.254+2778_254+2779dup
ENST00000478585.5:n.194+2778_194+2779dup
ENST00000480232.5:n.155+2582_155+2583dup
ENST00000480975.5:n.183+2778_183+2779dup
ENST00000481039.5:n.56+3227_56+3228dup
ENST00000481768.5:n.1324-3481_1324-3480dup
ENST00000482112.5:n.259-3481_259-3480dup
ENST00000484504.5:n.127+2778_127+2779dup
ENST00000485673.5:n.426+2582_426+2583dup
ENST00000488546.5:n.40+3313_40+3314dup
ENST00000488652.5:n.151_152dup
ENST00000490374.5:n.255-3481_255-3480dup
ENST00000491348.5:n.534-3481_534-3480dup
ENST00000492907.5:n.54_55dup
ENST00000493744.5:n.233-3481_233-3480dup
ENST00000604005.5:c.-39+2799_-39+2800dup ENSP00000474219.1:n.-39+2799_-39+2800dup
NM_000516.4:c.139+266_139+267dup NP_000507.1:n.139+266_139+267dup
NM_000516.5:c.139+266_139+267dup NP_000507.1:n.139+266_139+267dup
NM_001077488.2:c.139+266_139+267dup NP_001070956.1:n.139+266_139+267dup
NM_001077488.3:c.139+266_139+267dup NP_001070956.1:n.139+266_139+267dup
NM_001077489.2:c.139+266_139+267dup NP_001070957.1:n.139+266_139+267dup
NM_001077489.3:c.139+266_139+267dup NP_001070957.1:n.139+266_139+267dup
NM_001077490.1:c.*1-3481_*1-3480dup NP_001070958.1:n.*1-3481_*1-3480dup
NM_001077490.2:c.*1-3481_*1-3480dup NP_001070958.1:n.*1-3481_*1-3480dup
NM_001309840.1:c.-39+2778_-39+2779dup NP_001296769.1:n.-39+2778_-39+2779dup
NM_001309842.1:c.139+266_139+267dup NP_001296771.1:n.139+266_139+267dup
NM_001309861.1:c.-38-3481_-38-3480dup NP_001296790.1:n.-38-3481_-38-3480dup
NM_001309883.1:c.*159-3481_*159-3480dup NP_001296812.1:n.*159-3481_*159-3480dup
NM_016592.2:c.*43-3481_*43-3480dup NP_057676.1:n.*43-3481_*43-3480dup
NM_016592.3:c.*43-3481_*43-3480dup NP_057676.1:n.*43-3481_*43-3480dup
NM_080425.2:c.2069-3481_2069-3480dup NP_536350.2:n.2069-3481_2069-3480dup
NM_080425.3:c.2069-3481_2069-3480dup NP_536350.2:n.2069-3481_2069-3480dup
NM_080426.2:c.139+266_139+267dup NP_536351.1:n.139+266_139+267dup
NM_080426.3:c.139+266_139+267dup NP_536351.1:n.139+266_139+267dup
NR_003259.1:c.-4294967067+2778_-4294967067+2779dup
NR_132273.1:n.406+3313_406+3314dup
XM_017027812.2:c.2069-3481_2069-3480dup XP_016883301.1:n.2069-3481_2069-3480dup
XM_017027813.2:c.2069-3481_2069-3480dup XP_016883302.1:n.2069-3481_2069-3480dup
XM_017027814.2:c.2069-3481_2069-3480dup XP_016883303.1:n.2069-3481_2069-3480dup
XM_017027815.1:c.44-3481_44-3480dup XP_016883304.1:n.44-3481_44-3480dup
XM_017027816.1:c.-166+266_-166+267dup XP_016883305.1:n.-166+266_-166+267dup
XM_017027817.1:c.-39+2778_-39+2779dup XP_016883306.1:n.-39+2778_-39+2779dup
XM_017027818.2:c.-117_-116dup XP_016883307.1:n.-117_-116dup
XM_017027819.1:c.-39+2799_-39+2800dup XP_016883308.1:n.-39+2799_-39+2800dup
XM_017027821.1:c.*43-3481_*43-3480dup XP_016883310.1:n.*43-3481_*43-3480dup
XM_017027822.1:c.*43-3481_*43-3480dup XP_016883311.1:n.*43-3481_*43-3480dup
XM_024451872.1:c.44-3481_44-3480dup XP_024307640.1:n.44-3481_44-3480dup
XM_024451875.1:c.-39+2799_-39+2800dup XP_024307643.1:n.-39+2799_-39+2800dup
XR_002958471.1:n.764+266_764+267dup
NM_000516.6:c.139+266_139+267dup NP_000507.1:n.139+266_139+267dup
NM_001077488.4:c.139+266_139+267dup NP_001070956.1:n.139+266_139+267dup
NM_001077489.4:c.139+266_139+267dup NP_001070957.1:n.139+266_139+267dup
NM_001309840.2:c.-39+2778_-39+2779dup NP_001296769.1:n.-39+2778_-39+2779dup
NM_001309842.2:c.139+266_139+267dup NP_001296771.1:n.139+266_139+267dup
NM_001309861.2:c.-38-3481_-38-3480dup NP_001296790.1:n.-38-3481_-38-3480dup
NM_016592.4:c.*43-3481_*43-3480dup NP_057676.1:n.*43-3481_*43-3480dup
NM_080426.4:c.139+266_139+267dup NP_536351.1:n.139+266_139+267dup
NM_000516.7:c.139+266_139+267dup MANE Select NP_000507.1:n.139+266_139+267dup
NM_001077488.5:c.139+266_139+267dup NP_001070956.1:n.139+266_139+267dup
NM_001077490.3:c.*1-3481_*1-3480dup NP_001070958.1:n.*1-3481_*1-3480dup
NM_016592.5:c.*43-3481_*43-3480dup MANE Plus Clinical NP_057676.1:n.*43-3481_*43-3480dup
NM_080425.4:c.2069-3481_2069-3480dup MANE Plus Clinical NP_536350.2:n.2069-3481_2069-3480dup
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