Canonical Allele Identifier: CA1018909853
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs2089329092
gnomAD v3: 20-58891606-G-GGAGCC
gnomAD v4: 20-58891606-G-GGAGCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891612_58891616dup , CM000682.2:g.58891612_58891616dup GRCh38
NC_000020.10:g.57466667_57466671dup , CM000682.1:g.57466667_57466671dup GRCh37
NC_000020.9:g.56900062_56900066dup NCBI36
NG_016194.1:g.56873_56877dup
NG_016194.2:g.56873_56877dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-4000_2069-3996dup ENSP00000265621.6:n.2069-4000_2069-3996dup
ENST00000419558.7:c.*43-4000_*43-3996dup ENSP00000416234.2:n.*43-4000_*43-3996dup
ENST00000423897.7:c.2069-4000_2069-3996dup ENSP00000412356.2:n.2069-4000_2069-3996dup
ENST00000453292.7:c.781-4000_781-3996dup ENSP00000392000.2:n.781-4000_781-3996dup
ENST00000462499.6:c.-38-4000_-38-3996dup ENSP00000499758.2:n.-38-4000_-38-3996dup
ENST00000464624.7:c.2160-4000_2160-3996dup ENSP00000499607.2:n.2160-4000_2160-3996dup
ENST00000464788.6:c.-39+2399_-39+2403dup ENSP00000499239.2:n.-39+2399_-39+2403dup
ENST00000467227.6:c.-38-4000_-38-3996dup ENSP00000499681.2:n.-38-4000_-38-3996dup
ENST00000467321.6:c.-39+2566_-39+2570dup ENSP00000499523.2:n.-39+2566_-39+2570dup
ENST00000469431.6:c.-39+2206_-39+2210dup ENSP00000499654.2:n.-39+2206_-39+2210dup
ENST00000470512.6:c.-39+2259_-39+2263dup ENSP00000499552.2:n.-39+2259_-39+2263dup
ENST00000472183.6:c.-38-4000_-38-3996dup ENSP00000499673.2:n.-38-4000_-38-3996dup
ENST00000478585.6:c.-39+2259_-39+2263dup ENSP00000499762.2:n.-39+2259_-39+2263dup
ENST00000480232.6:c.-39+2063_-39+2067dup ENSP00000499545.2:n.-39+2063_-39+2067dup
ENST00000481039.6:c.-39+2704_-39+2708dup ENSP00000499767.2:n.-39+2704_-39+2708dup
ENST00000482112.6:c.-38-4000_-38-3996dup ENSP00000499794.2:n.-38-4000_-38-3996dup
ENST00000485673.6:c.-39+2063_-39+2067dup ENSP00000499334.2:n.-39+2063_-39+2067dup
ENST00000488546.6:c.-39+2794_-39+2798dup ENSP00000499332.2:n.-39+2794_-39+2798dup
ENST00000604005.6:c.-39+2280_-39+2284dup ENSP00000474219.2:n.-39+2280_-39+2284dup
ENST00000663479.2:c.-38-4000_-38-3996dup ENSP00000499353.2:n.-38-4000_-38-3996dup
ENST00000667293.2:c.-39+2708_-39+2712dup ENSP00000499293.2:n.-39+2708_-39+2712dup
ENST00000676826.2:c.2069-4000_2069-3996dup ENSP00000504675.2:n.2069-4000_2069-3996dup
ENST00000683015.1:c.909+823_909+827dup ENSP00000506815.1:n.909+823_909+827dup
ENST00000306090.12:c.44-4000_44-3996dup ENSP00000304472.12:n.44-4000_44-3996dup
ENST00000349036.8:c.2069-4000_2069-3996dup ENSP00000265621.5:n.2069-4000_2069-3996dup
ENST00000354359.12:c.-115_-111dup ENSP00000346328.7:n.-115_-111dup
ENST00000371085.8:c.-115_-111dup MANE Select ENSP00000360126.3:n.-115_-111dup
ENST00000371100.9:c.2069-4000_2069-3996dup MANE Plus Clinical ENSP00000360141.3:n.2069-4000_2069-3996dup
ENST00000419558.6:c.*43-4000_*43-3996dup ENSP00000416234.2:n.*43-4000_*43-3996dup
ENST00000423897.6:c.2069-4000_2069-3996dup ENSP00000412356.2:n.2069-4000_2069-3996dup
ENST00000453292.6:c.*43-4000_*43-3996dup ENSP00000392000.2:n.*43-4000_*43-3996dup
ENST00000461152.6:c.909+823_909+827dup ENSP00000499274.1:n.909+823_909+827dup
ENST00000481768.6:c.2227-4000_2227-3996dup ENSP00000499644.2:n.2227-4000_2227-3996dup
ENST00000490374.6:n.223-4000_223-3996dup
ENST00000657090.1:c.-38-4000_-38-3996dup ENSP00000499380.1:n.-38-4000_-38-3996dup
ENST00000663479.1:c.-38-4000_-38-3996dup ENSP00000499353.1:n.-38-4000_-38-3996dup
ENST00000667293.1:c.11-4000_11-3996dup ENSP00000499293.1:n.11-4000_11-3996dup
ENST00000676826.1:c.2069-4000_2069-3996dup ENSP00000504675.1:n.2069-4000_2069-3996dup
ENST00000265620.11:c.-115_-111dup ENSP00000265620.7:n.-115_-111dup
ENST00000313949.11:c.*43-4000_*43-3996dup ENSP00000323571.7:n.*43-4000_*43-3996dup
ENST00000349036.7:c.188-4000_188-3996dup ENSP00000265621.4:n.188-4000_188-3996dup
ENST00000354359.11:c.-115_-111dup ENSP00000346328.7:n.-115_-111dup
ENST00000371075.7:c.*43-4000_*43-3996dup MANE Plus Clinical ENSP00000360115.3:n.*43-4000_*43-3996dup
ENST00000371085.7:c.-115_-111dup ENSP00000360126.3:n.-115_-111dup
ENST00000371095.7:c.-115_-111dup ENSP00000360136.3:n.-115_-111dup
ENST00000371098.6:c.*43-4000_*43-3996dup ENSP00000360139.2:n.*43-4000_*43-3996dup
ENST00000371100.8:c.2069-4000_2069-3996dup ENSP00000360141.3:n.2069-4000_2069-3996dup
ENST00000371102.8:c.2069-4000_2069-3996dup ENSP00000360143.4:n.2069-4000_2069-3996dup
ENST00000419558.5:c.384-4000_384-3996dup
ENST00000423897.5:c.157-4000_157-3996dup
ENST00000450130.5:c.228-4000_228-3996dup
ENST00000453292.5:c.544-4000_544-3996dup ENSP00000392000.1:n.544-4000_544-3996dup
ENST00000461152.5:n.147+823_147+827dup
ENST00000462499.5:n.259-4000_259-3996dup
ENST00000464624.6:n.2102_2106dup
ENST00000464788.5:n.67+2399_67+2403dup
ENST00000464960.5:n.406+2794_406+2798dup
ENST00000467227.5:n.123-4000_123-3996dup
ENST00000467321.5:n.154+2566_154+2570dup
ENST00000468895.5:n.50+2704_50+2708dup
ENST00000469431.5:n.256+2206_256+2210dup
ENST00000470512.5:n.210+2259_210+2263dup
ENST00000472183.5:n.392-4000_392-3996dup
ENST00000477931.5:n.254+2259_254+2263dup
ENST00000478585.5:n.194+2259_194+2263dup
ENST00000480232.5:n.155+2063_155+2067dup
ENST00000480975.5:n.183+2259_183+2263dup
ENST00000481039.5:n.56+2708_56+2712dup
ENST00000481768.5:n.1324-4000_1324-3996dup
ENST00000482112.5:n.259-4000_259-3996dup
ENST00000484504.5:n.127+2259_127+2263dup
ENST00000485673.5:n.426+2063_426+2067dup
ENST00000488546.5:n.40+2794_40+2798dup
ENST00000490374.5:n.255-4000_255-3996dup
ENST00000491348.5:n.534-4000_534-3996dup
ENST00000493744.5:n.233-4000_233-3996dup
ENST00000604005.5:c.-39+2280_-39+2284dup ENSP00000474219.1:n.-39+2280_-39+2284dup
NM_000516.4:c.-115_-111dup NP_000507.1:n.-115_-111dup
NM_000516.5:c.-115_-111dup NP_000507.1:n.-115_-111dup
NM_001077488.2:c.-115_-111dup NP_001070956.1:n.-115_-111dup
NM_001077488.3:c.-115_-111dup NP_001070956.1:n.-115_-111dup
NM_001077489.2:c.-115_-111dup NP_001070957.1:n.-115_-111dup
NM_001077489.3:c.-115_-111dup NP_001070957.1:n.-115_-111dup
NM_001077490.1:c.*1-4000_*1-3996dup NP_001070958.1:n.*1-4000_*1-3996dup
NM_001077490.2:c.*1-4000_*1-3996dup NP_001070958.1:n.*1-4000_*1-3996dup
NM_001309840.1:c.-39+2259_-39+2263dup NP_001296769.1:n.-39+2259_-39+2263dup
NM_001309842.1:c.-115_-111dup NP_001296771.1:n.-115_-111dup
NM_001309861.1:c.-38-4000_-38-3996dup NP_001296790.1:n.-38-4000_-38-3996dup
NM_001309883.1:c.*159-4000_*159-3996dup NP_001296812.1:n.*159-4000_*159-3996dup
NM_016592.2:c.*43-4000_*43-3996dup NP_057676.1:n.*43-4000_*43-3996dup
NM_016592.3:c.*43-4000_*43-3996dup NP_057676.1:n.*43-4000_*43-3996dup
NM_080425.2:c.2069-4000_2069-3996dup NP_536350.2:n.2069-4000_2069-3996dup
NM_080425.3:c.2069-4000_2069-3996dup NP_536350.2:n.2069-4000_2069-3996dup
NM_080426.2:c.-115_-111dup NP_536351.1:n.-115_-111dup
NM_080426.3:c.-115_-111dup NP_536351.1:n.-115_-111dup
NR_003259.1:c.-4294967067+2259_-4294967067+2263dup
NR_132273.1:n.406+2794_406+2798dup
XM_017027812.2:c.2069-4000_2069-3996dup XP_016883301.1:n.2069-4000_2069-3996dup
XM_017027813.2:c.2069-4000_2069-3996dup XP_016883302.1:n.2069-4000_2069-3996dup
XM_017027814.2:c.2069-4000_2069-3996dup XP_016883303.1:n.2069-4000_2069-3996dup
XM_017027815.1:c.44-4000_44-3996dup XP_016883304.1:n.44-4000_44-3996dup
XM_017027816.1:c.-419_-415dup XP_016883305.1:n.-419_-415dup
XM_017027817.1:c.-39+2259_-39+2263dup XP_016883306.1:n.-39+2259_-39+2263dup
XM_017027819.1:c.-39+2280_-39+2284dup XP_016883308.1:n.-39+2280_-39+2284dup
XM_017027821.1:c.*43-4000_*43-3996dup XP_016883310.1:n.*43-4000_*43-3996dup
XM_017027822.1:c.*43-4000_*43-3996dup XP_016883311.1:n.*43-4000_*43-3996dup
XM_024451872.1:c.44-4000_44-3996dup XP_024307640.1:n.44-4000_44-3996dup
XM_024451875.1:c.-39+2280_-39+2284dup XP_024307643.1:n.-39+2280_-39+2284dup
XR_002958471.1:n.511_515dup
NM_000516.6:c.-115_-111dup NP_000507.1:n.-115_-111dup
NM_001077488.4:c.-115_-111dup NP_001070956.1:n.-115_-111dup
NM_001077489.4:c.-115_-111dup NP_001070957.1:n.-115_-111dup
NM_001309840.2:c.-39+2259_-39+2263dup NP_001296769.1:n.-39+2259_-39+2263dup
NM_001309842.2:c.-115_-111dup NP_001296771.1:n.-115_-111dup
NM_001309861.2:c.-38-4000_-38-3996dup NP_001296790.1:n.-38-4000_-38-3996dup
NM_016592.4:c.*43-4000_*43-3996dup NP_057676.1:n.*43-4000_*43-3996dup
NM_080426.4:c.-115_-111dup NP_536351.1:n.-115_-111dup
NM_000516.7:c.-115_-111dup MANE Select NP_000507.1:n.-115_-111dup
NM_001077488.5:c.-115_-111dup NP_001070956.1:n.-115_-111dup
NM_001077490.3:c.*1-4000_*1-3996dup NP_001070958.1:n.*1-4000_*1-3996dup
NM_016592.5:c.*43-4000_*43-3996dup MANE Plus Clinical NP_057676.1:n.*43-4000_*43-3996dup
NM_080425.4:c.2069-4000_2069-3996dup MANE Plus Clinical NP_536350.2:n.2069-4000_2069-3996dup
Search 100 bp 5'
Search 100 bp 3'