Canonical Allele Identifier: CA2372519328
Gene: GNAS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891679_58891685delinsCCCGCCG , CM000682.2:g.58891679_58891685delinsCCCGCCG GRCh38
NC_000020.10:g.57466734_57466740delinsCCCGCCG , CM000682.1:g.57466734_57466740delinsCCCGCCG GRCh37
NC_000020.9:g.56900129_56900135delinsCCCGCCG NCBI36
NG_016194.1:g.56940_56946delinsCCCGCCG
NG_016194.2:g.56940_56946delinsCCCGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3933_2069-3927delinsCCCGCCG ENSP00000265621.6:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000419558.7:c.*43-3933_*43-3927delinsCCCGCCG ENSP00000416234.2:n.*43-3933_*43-3927delinsCCCGCCG
ENST00000423897.7:c.2069-3933_2069-3927delinsCCCGCCG ENSP00000412356.2:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000453292.7:c.781-3933_781-3927delinsCCCGCCG ENSP00000392000.2:n.781-3933_781-3927delinsCCCGCCG
ENST00000462499.6:c.-38-3933_-38-3927delinsCCCGCCG ENSP00000499758.2:n.-38-3933_-38-3927delinsCCCGCCG
ENST00000464624.7:c.2160-3933_2160-3927delinsCCCGCCG ENSP00000499607.2:n.2160-3933_2160-3927delinsCCCGCCG
ENST00000464788.6:c.-39+2466_-39+2472delinsCCCGCCG ENSP00000499239.2:n.-39+2466_-39+2472delinsCCCGCCG
ENST00000467227.6:c.-38-3933_-38-3927delinsCCCGCCG ENSP00000499681.2:n.-38-3933_-38-3927delinsCCCGCCG
ENST00000467321.6:c.-39+2633_-39+2639delinsCCCGCCG ENSP00000499523.2:n.-39+2633_-39+2639delinsCCCGCCG
ENST00000469431.6:c.-39+2273_-39+2279delinsCCCGCCG ENSP00000499654.2:n.-39+2273_-39+2279delinsCCCGCCG
ENST00000470512.6:c.-39+2326_-39+2332delinsCCCGCCG ENSP00000499552.2:n.-39+2326_-39+2332delinsCCCGCCG
ENST00000472183.6:c.-38-3933_-38-3927delinsCCCGCCG ENSP00000499673.2:n.-38-3933_-38-3927delinsCCCGCCG
ENST00000478585.6:c.-39+2326_-39+2332delinsCCCGCCG ENSP00000499762.2:n.-39+2326_-39+2332delinsCCCGCCG
ENST00000480232.6:c.-39+2130_-39+2136delinsCCCGCCG ENSP00000499545.2:n.-39+2130_-39+2136delinsCCCGCCG
ENST00000481039.6:c.-39+2771_-39+2777delinsCCCGCCG ENSP00000499767.2:n.-39+2771_-39+2777delinsCCCGCCG
ENST00000482112.6:c.-38-3933_-38-3927delinsCCCGCCG ENSP00000499794.2:n.-38-3933_-38-3927delinsCCCGCCG
ENST00000485673.6:c.-39+2130_-39+2136delinsCCCGCCG ENSP00000499334.2:n.-39+2130_-39+2136delinsCCCGCCG
ENST00000488546.6:c.-39+2861_-39+2867delinsCCCGCCG ENSP00000499332.2:n.-39+2861_-39+2867delinsCCCGCCG
ENST00000604005.6:c.-39+2347_-39+2353delinsCCCGCCG ENSP00000474219.2:n.-39+2347_-39+2353delinsCCCGCCG
ENST00000663479.2:c.-38-3933_-38-3927delinsCCCGCCG ENSP00000499353.2:n.-38-3933_-38-3927delinsCCCGCCG
ENST00000667293.2:c.-39+2775_-39+2781delinsCCCGCCG ENSP00000499293.2:n.-39+2775_-39+2781delinsCCCGCCG
ENST00000676826.2:c.2069-3933_2069-3927delinsCCCGCCG ENSP00000504675.2:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000683015.1:c.909+890_909+896delinsCCCGCCG ENSP00000506815.1:n.909+890_909+896delinsCCCGCCG
ENST00000306090.12:c.44-3933_44-3927delinsCCCGCCG ENSP00000304472.12:n.44-3933_44-3927delinsCCCGCCG
ENST00000349036.8:c.2069-3933_2069-3927delinsCCCGCCG ENSP00000265621.5:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000354359.12:c.-48_-42delinsCCCGCCG ENSP00000346328.7:n.-48_-42delinsCCCGCCG
ENST00000371085.8:c.-48_-42delinsCCCGCCG MANE Select ENSP00000360126.3:n.-48_-42delinsCCCGCCG
ENST00000371100.9:c.2069-3933_2069-3927delinsCCCGCCG MANE Plus Clinical ENSP00000360141.3:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000419558.6:c.*43-3933_*43-3927delinsCCCGCCG ENSP00000416234.2:n.*43-3933_*43-3927delinsCCCGCCG
ENST00000423897.6:c.2069-3933_2069-3927delinsCCCGCCG ENSP00000412356.2:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000453292.6:c.*43-3933_*43-3927delinsCCCGCCG ENSP00000392000.2:n.*43-3933_*43-3927delinsCCCGCCG
ENST00000461152.6:c.909+890_909+896delinsCCCGCCG ENSP00000499274.1:n.909+890_909+896delinsCCCGCCG
ENST00000481768.6:c.2227-3933_2227-3927delinsCCCGCCG ENSP00000499644.2:n.2227-3933_2227-3927delinsCCCGCCG
ENST00000490374.6:n.223-3933_223-3927delinsCCCGCCG
ENST00000657090.1:c.-38-3933_-38-3927delinsCCCGCCG ENSP00000499380.1:n.-38-3933_-38-3927delinsCCCGCCG
ENST00000663479.1:c.-38-3933_-38-3927delinsCCCGCCG ENSP00000499353.1:n.-38-3933_-38-3927delinsCCCGCCG
ENST00000667293.1:c.11-3933_11-3927delinsCCCGCCG ENSP00000499293.1:n.11-3933_11-3927delinsCCCGCCG
ENST00000676826.1:c.2069-3933_2069-3927delinsCCCGCCG ENSP00000504675.1:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000265620.11:c.-48_-42delinsCCCGCCG ENSP00000265620.7:n.-48_-42delinsCCCGCCG
ENST00000313949.11:c.*43-3933_*43-3927delinsCCCGCCG ENSP00000323571.7:n.*43-3933_*43-3927delinsCCCGCCG
ENST00000349036.7:c.188-3933_188-3927delinsCCCGCCG ENSP00000265621.4:n.188-3933_188-3927delinsCCCGCCG
ENST00000354359.11:c.-48_-42delinsCCCGCCG ENSP00000346328.7:n.-48_-42delinsCCCGCCG
ENST00000371075.7:c.*43-3933_*43-3927delinsCCCGCCG MANE Plus Clinical ENSP00000360115.3:n.*43-3933_*43-3927delinsCCCGCCG
ENST00000371085.7:c.-48_-42delinsCCCGCCG ENSP00000360126.3:n.-48_-42delinsCCCGCCG
ENST00000371095.7:c.-48_-42delinsCCCGCCG ENSP00000360136.3:n.-48_-42delinsCCCGCCG
ENST00000371098.6:c.*43-3933_*43-3927delinsCCCGCCG ENSP00000360139.2:n.*43-3933_*43-3927delinsCCCGCCG
ENST00000371100.8:c.2069-3933_2069-3927delinsCCCGCCG ENSP00000360141.3:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000371102.8:c.2069-3933_2069-3927delinsCCCGCCG ENSP00000360143.4:n.2069-3933_2069-3927delinsCCCGCCG
ENST00000419558.5:c.384-3933_384-3927delinsCCCGCCG
ENST00000423897.5:c.157-3933_157-3927delinsCCCGCCG
ENST00000450130.5:c.228-3933_228-3927delinsCCCGCCG
ENST00000453292.5:c.544-3933_544-3927delinsCCCGCCG ENSP00000392000.1:n.544-3933_544-3927delinsCCCGCCG
ENST00000461152.5:n.147+890_147+896delinsCCCGCCG
ENST00000462499.5:n.259-3933_259-3927delinsCCCGCCG
ENST00000464624.6:n.2169_2175delinsCCCGCCG
ENST00000464788.5:n.67+2466_67+2472delinsCCCGCCG
ENST00000464960.5:n.406+2861_406+2867delinsCCCGCCG
ENST00000467227.5:n.123-3933_123-3927delinsCCCGCCG
ENST00000467321.5:n.154+2633_154+2639delinsCCCGCCG
ENST00000468895.5:n.50+2771_50+2777delinsCCCGCCG
ENST00000469431.5:n.256+2273_256+2279delinsCCCGCCG
ENST00000470512.5:n.210+2326_210+2332delinsCCCGCCG
ENST00000472183.5:n.392-3933_392-3927delinsCCCGCCG
ENST00000477931.5:n.254+2326_254+2332delinsCCCGCCG
ENST00000478585.5:n.194+2326_194+2332delinsCCCGCCG
ENST00000480232.5:n.155+2130_155+2136delinsCCCGCCG
ENST00000480975.5:n.183+2326_183+2332delinsCCCGCCG
ENST00000481039.5:n.56+2775_56+2781delinsCCCGCCG
ENST00000481768.5:n.1324-3933_1324-3927delinsCCCGCCG
ENST00000482112.5:n.259-3933_259-3927delinsCCCGCCG
ENST00000484504.5:n.127+2326_127+2332delinsCCCGCCG
ENST00000485673.5:n.426+2130_426+2136delinsCCCGCCG
ENST00000488546.5:n.40+2861_40+2867delinsCCCGCCG
ENST00000490374.5:n.255-3933_255-3927delinsCCCGCCG
ENST00000491348.5:n.534-3933_534-3927delinsCCCGCCG
ENST00000493744.5:n.233-3933_233-3927delinsCCCGCCG
ENST00000604005.5:c.-39+2347_-39+2353delinsCCCGCCG ENSP00000474219.1:n.-39+2347_-39+2353delinsCCCGCCG
NM_000516.4:c.-48_-42delinsCCCGCCG NP_000507.1:n.-48_-42delinsCCCGCCG
NM_000516.5:c.-48_-42delinsCCCGCCG NP_000507.1:n.-48_-42delinsCCCGCCG
NM_001077488.2:c.-48_-42delinsCCCGCCG NP_001070956.1:n.-48_-42delinsCCCGCCG
NM_001077488.3:c.-48_-42delinsCCCGCCG NP_001070956.1:n.-48_-42delinsCCCGCCG
NM_001077489.2:c.-48_-42delinsCCCGCCG NP_001070957.1:n.-48_-42delinsCCCGCCG
NM_001077489.3:c.-48_-42delinsCCCGCCG NP_001070957.1:n.-48_-42delinsCCCGCCG
NM_001077490.1:c.*1-3933_*1-3927delinsCCCGCCG NP_001070958.1:n.*1-3933_*1-3927delinsCCCGCCG
NM_001077490.2:c.*1-3933_*1-3927delinsCCCGCCG NP_001070958.1:n.*1-3933_*1-3927delinsCCCGCCG
NM_001309840.1:c.-39+2326_-39+2332delinsCCCGCCG NP_001296769.1:n.-39+2326_-39+2332delinsCCCGCCG
NM_001309842.1:c.-48_-42delinsCCCGCCG NP_001296771.1:n.-48_-42delinsCCCGCCG
NM_001309861.1:c.-38-3933_-38-3927delinsCCCGCCG NP_001296790.1:n.-38-3933_-38-3927delinsCCCGCCG
NM_001309883.1:c.*159-3933_*159-3927delinsCCCGCCG NP_001296812.1:n.*159-3933_*159-3927delinsCCCGCCG
NM_016592.2:c.*43-3933_*43-3927delinsCCCGCCG NP_057676.1:n.*43-3933_*43-3927delinsCCCGCCG
NM_016592.3:c.*43-3933_*43-3927delinsCCCGCCG NP_057676.1:n.*43-3933_*43-3927delinsCCCGCCG
NM_080425.2:c.2069-3933_2069-3927delinsCCCGCCG NP_536350.2:n.2069-3933_2069-3927delinsCCCGCCG
NM_080425.3:c.2069-3933_2069-3927delinsCCCGCCG NP_536350.2:n.2069-3933_2069-3927delinsCCCGCCG
NM_080426.2:c.-48_-42delinsCCCGCCG NP_536351.1:n.-48_-42delinsCCCGCCG
NM_080426.3:c.-48_-42delinsCCCGCCG NP_536351.1:n.-48_-42delinsCCCGCCG
NR_003259.1:c.-4294967067+2326_-4294967067+2332delinsCCCGCCG
NR_132273.1:n.406+2861_406+2867delinsCCCGCCG
XM_017027812.2:c.2069-3933_2069-3927delinsCCCGCCG XP_016883301.1:n.2069-3933_2069-3927delinsCCCGCCG
XM_017027813.2:c.2069-3933_2069-3927delinsCCCGCCG XP_016883302.1:n.2069-3933_2069-3927delinsCCCGCCG
XM_017027814.2:c.2069-3933_2069-3927delinsCCCGCCG XP_016883303.1:n.2069-3933_2069-3927delinsCCCGCCG
XM_017027815.1:c.44-3933_44-3927delinsCCCGCCG XP_016883304.1:n.44-3933_44-3927delinsCCCGCCG
XM_017027816.1:c.-352_-346delinsCCCGCCG XP_016883305.1:n.-352_-346delinsCCCGCCG
XM_017027817.1:c.-39+2326_-39+2332delinsCCCGCCG XP_016883306.1:n.-39+2326_-39+2332delinsCCCGCCG
XM_017027819.1:c.-39+2347_-39+2353delinsCCCGCCG XP_016883308.1:n.-39+2347_-39+2353delinsCCCGCCG
XM_017027821.1:c.*43-3933_*43-3927delinsCCCGCCG XP_016883310.1:n.*43-3933_*43-3927delinsCCCGCCG
XM_017027822.1:c.*43-3933_*43-3927delinsCCCGCCG XP_016883311.1:n.*43-3933_*43-3927delinsCCCGCCG
XM_024451872.1:c.44-3933_44-3927delinsCCCGCCG XP_024307640.1:n.44-3933_44-3927delinsCCCGCCG
XM_024451875.1:c.-39+2347_-39+2353delinsCCCGCCG XP_024307643.1:n.-39+2347_-39+2353delinsCCCGCCG
XR_002958471.1:n.578_584delinsCCCGCCG
NM_000516.6:c.-48_-42delinsCCCGCCG NP_000507.1:n.-48_-42delinsCCCGCCG
NM_001077488.4:c.-48_-42delinsCCCGCCG NP_001070956.1:n.-48_-42delinsCCCGCCG
NM_001077489.4:c.-48_-42delinsCCCGCCG NP_001070957.1:n.-48_-42delinsCCCGCCG
NM_001309840.2:c.-39+2326_-39+2332delinsCCCGCCG NP_001296769.1:n.-39+2326_-39+2332delinsCCCGCCG
NM_001309842.2:c.-48_-42delinsCCCGCCG NP_001296771.1:n.-48_-42delinsCCCGCCG
NM_001309861.2:c.-38-3933_-38-3927delinsCCCGCCG NP_001296790.1:n.-38-3933_-38-3927delinsCCCGCCG
NM_016592.4:c.*43-3933_*43-3927delinsCCCGCCG NP_057676.1:n.*43-3933_*43-3927delinsCCCGCCG
NM_080426.4:c.-48_-42delinsCCCGCCG NP_536351.1:n.-48_-42delinsCCCGCCG
NM_000516.7:c.-48_-42delinsCCCGCCG MANE Select NP_000507.1:n.-48_-42delinsCCCGCCG
NM_001077488.5:c.-48_-42delinsCCCGCCG NP_001070956.1:n.-48_-42delinsCCCGCCG
NM_001077490.3:c.*1-3933_*1-3927delinsCCCGCCG NP_001070958.1:n.*1-3933_*1-3927delinsCCCGCCG
NM_016592.5:c.*43-3933_*43-3927delinsCCCGCCG MANE Plus Clinical NP_057676.1:n.*43-3933_*43-3927delinsCCCGCCG
NM_080425.4:c.2069-3933_2069-3927delinsCCCGCCG MANE Plus Clinical NP_536350.2:n.2069-3933_2069-3927delinsCCCGCCG
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