Canonical Allele Identifier: CA2372519483
Gene: GNAS HGNC NCBI

Linked Data

ClinVar Variation Id: 2869144
ClinVar RCV Id: RCV003705349
dbSNP Id: rs2089397953
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891885_58891890dup , CM000682.2:g.58891885_58891890dup GRCh38
NC_000020.10:g.57466940_57466945dup , CM000682.1:g.57466940_57466945dup GRCh37
NC_000020.9:g.56900335_56900340dup NCBI36
NG_016194.1:g.57146_57151dup
NG_016194.2:g.57146_57151dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3727_2069-3722dup ENSP00000265621.6:n.2069-3727_2069-3722dup
ENST00000419558.7:c.*43-3727_*43-3722dup ENSP00000416234.2:n.*43-3727_*43-3722dup
ENST00000423897.7:c.2069-3727_2069-3722dup ENSP00000412356.2:n.2069-3727_2069-3722dup
ENST00000453292.7:c.781-3727_781-3722dup ENSP00000392000.2:n.781-3727_781-3722dup
ENST00000462499.6:c.-38-3727_-38-3722dup ENSP00000499758.2:n.-38-3727_-38-3722dup
ENST00000464624.7:c.2160-3727_2160-3722dup ENSP00000499607.2:n.2160-3727_2160-3722dup
ENST00000464788.6:c.-39+2672_-39+2677dup ENSP00000499239.2:n.-39+2672_-39+2677dup
ENST00000467227.6:c.-38-3727_-38-3722dup ENSP00000499681.2:n.-38-3727_-38-3722dup
ENST00000467321.6:c.-39+2839_-39+2844dup ENSP00000499523.2:n.-39+2839_-39+2844dup
ENST00000468895.6:c.139+20_139+25dup ENSP00000499551.2:n.139+20_139+25dup
ENST00000469431.6:c.-39+2479_-39+2484dup ENSP00000499654.2:n.-39+2479_-39+2484dup
ENST00000470512.6:c.-39+2532_-39+2537dup ENSP00000499552.2:n.-39+2532_-39+2537dup
ENST00000472183.6:c.-38-3727_-38-3722dup ENSP00000499673.2:n.-38-3727_-38-3722dup
ENST00000478585.6:c.-39+2532_-39+2537dup ENSP00000499762.2:n.-39+2532_-39+2537dup
ENST00000480232.6:c.-39+2336_-39+2341dup ENSP00000499545.2:n.-39+2336_-39+2341dup
ENST00000481039.6:c.-39+2977_-39+2982dup ENSP00000499767.2:n.-39+2977_-39+2982dup
ENST00000482112.6:c.-38-3727_-38-3722dup ENSP00000499794.2:n.-38-3727_-38-3722dup
ENST00000485673.6:c.-39+2336_-39+2341dup ENSP00000499334.2:n.-39+2336_-39+2341dup
ENST00000488546.6:c.-39+3067_-39+3072dup ENSP00000499332.2:n.-39+3067_-39+3072dup
ENST00000604005.6:c.-39+2553_-39+2558dup ENSP00000474219.2:n.-39+2553_-39+2558dup
ENST00000663479.2:c.-38-3727_-38-3722dup ENSP00000499353.2:n.-38-3727_-38-3722dup
ENST00000667293.2:c.-39+2981_-39+2986dup ENSP00000499293.2:n.-39+2981_-39+2986dup
ENST00000676826.2:c.2069-3727_2069-3722dup ENSP00000504675.2:n.2069-3727_2069-3722dup
ENST00000682803.1:c.-366+20_-366+25dup ENSP00000507069.1:n.-366+20_-366+25dup
ENST00000683015.1:c.909+1096_909+1101dup ENSP00000506815.1:n.909+1096_909+1101dup
ENST00000306090.12:c.44-3727_44-3722dup ENSP00000304472.12:n.44-3727_44-3722dup
ENST00000338783.7:c.139+20_139+25dup ENSP00000345971.7:n.139+20_139+25dup
ENST00000349036.8:c.2069-3727_2069-3722dup ENSP00000265621.5:n.2069-3727_2069-3722dup
ENST00000354359.12:c.139+20_139+25dup ENSP00000346328.7:n.139+20_139+25dup
ENST00000371085.8:c.139+20_139+25dup MANE Select ENSP00000360126.3:n.139+20_139+25dup
ENST00000371100.9:c.2069-3727_2069-3722dup MANE Plus Clinical ENSP00000360141.3:n.2069-3727_2069-3722dup
ENST00000419558.6:c.*43-3727_*43-3722dup ENSP00000416234.2:n.*43-3727_*43-3722dup
ENST00000423897.6:c.2069-3727_2069-3722dup ENSP00000412356.2:n.2069-3727_2069-3722dup
ENST00000453292.6:c.*43-3727_*43-3722dup ENSP00000392000.2:n.*43-3727_*43-3722dup
ENST00000461152.6:c.909+1096_909+1101dup ENSP00000499274.1:n.909+1096_909+1101dup
ENST00000481768.6:c.2227-3727_2227-3722dup ENSP00000499644.2:n.2227-3727_2227-3722dup
ENST00000490374.6:n.223-3727_223-3722dup
ENST00000657090.1:c.-38-3727_-38-3722dup ENSP00000499380.1:n.-38-3727_-38-3722dup
ENST00000663479.1:c.-38-3727_-38-3722dup ENSP00000499353.1:n.-38-3727_-38-3722dup
ENST00000667293.1:c.11-3727_11-3722dup ENSP00000499293.1:n.11-3727_11-3722dup
ENST00000676826.1:c.2069-3727_2069-3722dup ENSP00000504675.1:n.2069-3727_2069-3722dup
ENST00000265620.11:c.139+20_139+25dup ENSP00000265620.7:n.139+20_139+25dup
ENST00000306090.11:c.93+66_93+71dup ENSP00000304472.11:n.93+66_93+71dup
ENST00000313949.11:c.*43-3727_*43-3722dup ENSP00000323571.7:n.*43-3727_*43-3722dup
ENST00000338783.6:c.106+20_106+25dup ENSP00000345971.6:n.106+20_106+25dup
ENST00000349036.7:c.188-3727_188-3722dup ENSP00000265621.4:n.188-3727_188-3722dup
ENST00000354359.11:c.139+20_139+25dup ENSP00000346328.7:n.139+20_139+25dup
ENST00000371075.7:c.*43-3727_*43-3722dup MANE Plus Clinical ENSP00000360115.3:n.*43-3727_*43-3722dup
ENST00000371081.5:c.139+20_139+25dup ENSP00000360122.1:n.139+20_139+25dup
ENST00000371085.7:c.139+20_139+25dup ENSP00000360126.3:n.139+20_139+25dup
ENST00000371095.7:c.139+20_139+25dup ENSP00000360136.3:n.139+20_139+25dup
ENST00000371098.6:c.*43-3727_*43-3722dup ENSP00000360139.2:n.*43-3727_*43-3722dup
ENST00000371100.8:c.2069-3727_2069-3722dup ENSP00000360141.3:n.2069-3727_2069-3722dup
ENST00000371102.8:c.2069-3727_2069-3722dup ENSP00000360143.4:n.2069-3727_2069-3722dup
ENST00000419558.5:c.384-3727_384-3722dup
ENST00000423897.5:c.157-3727_157-3722dup
ENST00000450130.5:c.228-3727_228-3722dup
ENST00000453292.5:c.544-3727_544-3722dup ENSP00000392000.1:n.544-3727_544-3722dup
ENST00000461152.5:n.147+1096_147+1101dup
ENST00000462499.5:n.259-3727_259-3722dup
ENST00000464624.6:n.2355+20_2355+25dup
ENST00000464788.5:n.67+2672_67+2677dup
ENST00000464960.5:n.406+3067_406+3072dup
ENST00000467227.5:n.123-3727_123-3722dup
ENST00000467321.5:n.154+2839_154+2844dup
ENST00000468895.5:n.50+2977_50+2982dup
ENST00000469431.5:n.256+2479_256+2484dup
ENST00000470512.5:n.210+2532_210+2537dup
ENST00000472183.5:n.392-3727_392-3722dup
ENST00000477931.5:n.254+2532_254+2537dup
ENST00000478585.5:n.194+2532_194+2537dup
ENST00000480232.5:n.155+2336_155+2341dup
ENST00000480975.5:n.183+2532_183+2537dup
ENST00000481039.5:n.56+2981_56+2986dup
ENST00000481768.5:n.1324-3727_1324-3722dup
ENST00000482112.5:n.259-3727_259-3722dup
ENST00000484504.5:n.127+2532_127+2537dup
ENST00000485673.5:n.426+2336_426+2341dup
ENST00000488546.5:n.40+3067_40+3072dup
ENST00000490374.5:n.255-3727_255-3722dup
ENST00000491348.5:n.534-3727_534-3722dup
ENST00000493744.5:n.233-3727_233-3722dup
ENST00000604005.5:c.-39+2553_-39+2558dup ENSP00000474219.1:n.-39+2553_-39+2558dup
NM_000516.4:c.139+20_139+25dup NP_000507.1:n.139+20_139+25dup
NM_000516.5:c.139+20_139+25dup NP_000507.1:n.139+20_139+25dup
NM_001077488.2:c.139+20_139+25dup NP_001070956.1:n.139+20_139+25dup
NM_001077488.3:c.139+20_139+25dup NP_001070956.1:n.139+20_139+25dup
NM_001077489.2:c.139+20_139+25dup NP_001070957.1:n.139+20_139+25dup
NM_001077489.3:c.139+20_139+25dup NP_001070957.1:n.139+20_139+25dup
NM_001077490.1:c.*1-3727_*1-3722dup NP_001070958.1:n.*1-3727_*1-3722dup
NM_001077490.2:c.*1-3727_*1-3722dup NP_001070958.1:n.*1-3727_*1-3722dup
NM_001309840.1:c.-39+2532_-39+2537dup NP_001296769.1:n.-39+2532_-39+2537dup
NM_001309842.1:c.139+20_139+25dup NP_001296771.1:n.139+20_139+25dup
NM_001309861.1:c.-38-3727_-38-3722dup NP_001296790.1:n.-38-3727_-38-3722dup
NM_001309883.1:c.*159-3727_*159-3722dup NP_001296812.1:n.*159-3727_*159-3722dup
NM_016592.2:c.*43-3727_*43-3722dup NP_057676.1:n.*43-3727_*43-3722dup
NM_016592.3:c.*43-3727_*43-3722dup NP_057676.1:n.*43-3727_*43-3722dup
NM_080425.2:c.2069-3727_2069-3722dup NP_536350.2:n.2069-3727_2069-3722dup
NM_080425.3:c.2069-3727_2069-3722dup NP_536350.2:n.2069-3727_2069-3722dup
NM_080426.2:c.139+20_139+25dup NP_536351.1:n.139+20_139+25dup
NM_080426.3:c.139+20_139+25dup NP_536351.1:n.139+20_139+25dup
NR_003259.1:c.-4294967067+2532_-4294967067+2537dup
NR_132273.1:n.406+3067_406+3072dup
XM_017027812.2:c.2069-3727_2069-3722dup XP_016883301.1:n.2069-3727_2069-3722dup
XM_017027813.2:c.2069-3727_2069-3722dup XP_016883302.1:n.2069-3727_2069-3722dup
XM_017027814.2:c.2069-3727_2069-3722dup XP_016883303.1:n.2069-3727_2069-3722dup
XM_017027815.1:c.44-3727_44-3722dup XP_016883304.1:n.44-3727_44-3722dup
XM_017027816.1:c.-166+20_-166+25dup XP_016883305.1:n.-166+20_-166+25dup
XM_017027817.1:c.-39+2532_-39+2537dup XP_016883306.1:n.-39+2532_-39+2537dup
XM_017027819.1:c.-39+2553_-39+2558dup XP_016883308.1:n.-39+2553_-39+2558dup
XM_017027821.1:c.*43-3727_*43-3722dup XP_016883310.1:n.*43-3727_*43-3722dup
XM_017027822.1:c.*43-3727_*43-3722dup XP_016883311.1:n.*43-3727_*43-3722dup
XM_024451872.1:c.44-3727_44-3722dup XP_024307640.1:n.44-3727_44-3722dup
XM_024451875.1:c.-39+2553_-39+2558dup XP_024307643.1:n.-39+2553_-39+2558dup
XR_002958471.1:n.764+20_764+25dup
NM_000516.6:c.139+20_139+25dup NP_000507.1:n.139+20_139+25dup
NM_001077488.4:c.139+20_139+25dup NP_001070956.1:n.139+20_139+25dup
NM_001077489.4:c.139+20_139+25dup NP_001070957.1:n.139+20_139+25dup
NM_001309840.2:c.-39+2532_-39+2537dup NP_001296769.1:n.-39+2532_-39+2537dup
NM_001309842.2:c.139+20_139+25dup NP_001296771.1:n.139+20_139+25dup
NM_001309861.2:c.-38-3727_-38-3722dup NP_001296790.1:n.-38-3727_-38-3722dup
NM_016592.4:c.*43-3727_*43-3722dup NP_057676.1:n.*43-3727_*43-3722dup
NM_080426.4:c.139+20_139+25dup NP_536351.1:n.139+20_139+25dup
NM_000516.7:c.139+20_139+25dup MANE Select NP_000507.1:n.139+20_139+25dup
NM_001077488.5:c.139+20_139+25dup NP_001070956.1:n.139+20_139+25dup
NM_001077490.3:c.*1-3727_*1-3722dup NP_001070958.1:n.*1-3727_*1-3722dup
NM_016592.5:c.*43-3727_*43-3722dup MANE Plus Clinical NP_057676.1:n.*43-3727_*43-3722dup
NM_080425.4:c.2069-3727_2069-3722dup MANE Plus Clinical NP_536350.2:n.2069-3727_2069-3722dup
Search 100 bp 5'
Search 100 bp 3'