Canonical Allele Identifier: CA2372519242
Gene: GNAS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891616_58891625delinsCCGCGCCCGG , CM000682.2:g.58891616_58891625delinsCCGCGCCCGG GRCh38
NC_000020.10:g.57466671_57466680delinsCCGCGCCCGG , CM000682.1:g.57466671_57466680delinsCCGCGCCCGG GRCh37
NC_000020.9:g.56900066_56900075delinsCCGCGCCCGG NCBI36
NG_016194.1:g.56877_56886delinsCCGCGCCCGG
NG_016194.2:g.56877_56886delinsCCGCGCCCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3996_2069-3987delinsCCGCGCCCGG ENSP00000265621.6:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000419558.7:c.*43-3996_*43-3987delinsCCGCGCCCGG ENSP00000416234.2:n.*43-3996_*43-3987delinsCCGCGCCCGG
ENST00000423897.7:c.2069-3996_2069-3987delinsCCGCGCCCGG ENSP00000412356.2:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000453292.7:c.781-3996_781-3987delinsCCGCGCCCGG ENSP00000392000.2:n.781-3996_781-3987delinsCCGCGCCCGG
ENST00000462499.6:c.-38-3996_-38-3987delinsCCGCGCCCGG ENSP00000499758.2:n.-38-3996_-38-3987delinsCCGCGCCCGG
ENST00000464624.7:c.2160-3996_2160-3987delinsCCGCGCCCGG ENSP00000499607.2:n.2160-3996_2160-3987delinsCCGCGCCCGG
ENST00000464788.6:c.-39+2403_-39+2412delinsCCGCGCCCGG ENSP00000499239.2:n.-39+2403_-39+2412delinsCCGCGCCCGG
ENST00000467227.6:c.-38-3996_-38-3987delinsCCGCGCCCGG ENSP00000499681.2:n.-38-3996_-38-3987delinsCCGCGCCCGG
ENST00000467321.6:c.-39+2570_-39+2579delinsCCGCGCCCGG ENSP00000499523.2:n.-39+2570_-39+2579delinsCCGCGCCCGG
ENST00000469431.6:c.-39+2210_-39+2219delinsCCGCGCCCGG ENSP00000499654.2:n.-39+2210_-39+2219delinsCCGCGCCCGG
ENST00000470512.6:c.-39+2263_-39+2272delinsCCGCGCCCGG ENSP00000499552.2:n.-39+2263_-39+2272delinsCCGCGCCCGG
ENST00000472183.6:c.-38-3996_-38-3987delinsCCGCGCCCGG ENSP00000499673.2:n.-38-3996_-38-3987delinsCCGCGCCCGG
ENST00000478585.6:c.-39+2263_-39+2272delinsCCGCGCCCGG ENSP00000499762.2:n.-39+2263_-39+2272delinsCCGCGCCCGG
ENST00000480232.6:c.-39+2067_-39+2076delinsCCGCGCCCGG ENSP00000499545.2:n.-39+2067_-39+2076delinsCCGCGCCCGG
ENST00000481039.6:c.-39+2708_-39+2717delinsCCGCGCCCGG ENSP00000499767.2:n.-39+2708_-39+2717delinsCCGCGCCCGG
ENST00000482112.6:c.-38-3996_-38-3987delinsCCGCGCCCGG ENSP00000499794.2:n.-38-3996_-38-3987delinsCCGCGCCCGG
ENST00000485673.6:c.-39+2067_-39+2076delinsCCGCGCCCGG ENSP00000499334.2:n.-39+2067_-39+2076delinsCCGCGCCCGG
ENST00000488546.6:c.-39+2798_-39+2807delinsCCGCGCCCGG ENSP00000499332.2:n.-39+2798_-39+2807delinsCCGCGCCCGG
ENST00000604005.6:c.-39+2284_-39+2293delinsCCGCGCCCGG ENSP00000474219.2:n.-39+2284_-39+2293delinsCCGCGCCCGG
ENST00000663479.2:c.-38-3996_-38-3987delinsCCGCGCCCGG ENSP00000499353.2:n.-38-3996_-38-3987delinsCCGCGCCCGG
ENST00000667293.2:c.-39+2712_-39+2721delinsCCGCGCCCGG ENSP00000499293.2:n.-39+2712_-39+2721delinsCCGCGCCCGG
ENST00000676826.2:c.2069-3996_2069-3987delinsCCGCGCCCGG ENSP00000504675.2:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000683015.1:c.909+827_909+836delinsCCGCGCCCGG ENSP00000506815.1:n.909+827_909+836delinsCCGCGCCCGG
ENST00000306090.12:c.44-3996_44-3987delinsCCGCGCCCGG ENSP00000304472.12:n.44-3996_44-3987delinsCCGCGCCCGG
ENST00000349036.8:c.2069-3996_2069-3987delinsCCGCGCCCGG ENSP00000265621.5:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000354359.12:c.-111_-102delinsCCGCGCCCGG ENSP00000346328.7:n.-111_-102delinsCCGCGCCCGG
ENST00000371085.8:c.-111_-102delinsCCGCGCCCGG MANE Select ENSP00000360126.3:n.-111_-102delinsCCGCGCCCGG
ENST00000371100.9:c.2069-3996_2069-3987delinsCCGCGCCCGG MANE Plus Clinical ENSP00000360141.3:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000419558.6:c.*43-3996_*43-3987delinsCCGCGCCCGG ENSP00000416234.2:n.*43-3996_*43-3987delinsCCGCGCCCGG
ENST00000423897.6:c.2069-3996_2069-3987delinsCCGCGCCCGG ENSP00000412356.2:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000453292.6:c.*43-3996_*43-3987delinsCCGCGCCCGG ENSP00000392000.2:n.*43-3996_*43-3987delinsCCGCGCCCGG
ENST00000461152.6:c.909+827_909+836delinsCCGCGCCCGG ENSP00000499274.1:n.909+827_909+836delinsCCGCGCCCGG
ENST00000481768.6:c.2227-3996_2227-3987delinsCCGCGCCCGG ENSP00000499644.2:n.2227-3996_2227-3987delinsCCGCGCCCGG
ENST00000490374.6:n.223-3996_223-3987delinsCCGCGCCCGG
ENST00000657090.1:c.-38-3996_-38-3987delinsCCGCGCCCGG ENSP00000499380.1:n.-38-3996_-38-3987delinsCCGCGCCCGG
ENST00000663479.1:c.-38-3996_-38-3987delinsCCGCGCCCGG ENSP00000499353.1:n.-38-3996_-38-3987delinsCCGCGCCCGG
ENST00000667293.1:c.11-3996_11-3987delinsCCGCGCCCGG ENSP00000499293.1:n.11-3996_11-3987delinsCCGCGCCCGG
ENST00000676826.1:c.2069-3996_2069-3987delinsCCGCGCCCGG ENSP00000504675.1:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000265620.11:c.-111_-102delinsCCGCGCCCGG ENSP00000265620.7:n.-111_-102delinsCCGCGCCCGG
ENST00000313949.11:c.*43-3996_*43-3987delinsCCGCGCCCGG ENSP00000323571.7:n.*43-3996_*43-3987delinsCCGCGCCCGG
ENST00000349036.7:c.188-3996_188-3987delinsCCGCGCCCGG ENSP00000265621.4:n.188-3996_188-3987delinsCCGCGCCCGG
ENST00000354359.11:c.-111_-102delinsCCGCGCCCGG ENSP00000346328.7:n.-111_-102delinsCCGCGCCCGG
ENST00000371075.7:c.*43-3996_*43-3987delinsCCGCGCCCGG MANE Plus Clinical ENSP00000360115.3:n.*43-3996_*43-3987delinsCCGCGCCCGG
ENST00000371085.7:c.-111_-102delinsCCGCGCCCGG ENSP00000360126.3:n.-111_-102delinsCCGCGCCCGG
ENST00000371095.7:c.-111_-102delinsCCGCGCCCGG ENSP00000360136.3:n.-111_-102delinsCCGCGCCCGG
ENST00000371098.6:c.*43-3996_*43-3987delinsCCGCGCCCGG ENSP00000360139.2:n.*43-3996_*43-3987delinsCCGCGCCCGG
ENST00000371100.8:c.2069-3996_2069-3987delinsCCGCGCCCGG ENSP00000360141.3:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000371102.8:c.2069-3996_2069-3987delinsCCGCGCCCGG ENSP00000360143.4:n.2069-3996_2069-3987delinsCCGCGCCCGG
ENST00000419558.5:c.384-3996_384-3987delinsCCGCGCCCGG
ENST00000423897.5:c.157-3996_157-3987delinsCCGCGCCCGG
ENST00000450130.5:c.228-3996_228-3987delinsCCGCGCCCGG
ENST00000453292.5:c.544-3996_544-3987delinsCCGCGCCCGG ENSP00000392000.1:n.544-3996_544-3987delinsCCGCGCCCGG
ENST00000461152.5:n.147+827_147+836delinsCCGCGCCCGG
ENST00000462499.5:n.259-3996_259-3987delinsCCGCGCCCGG
ENST00000464624.6:n.2106_2115delinsCCGCGCCCGG
ENST00000464788.5:n.67+2403_67+2412delinsCCGCGCCCGG
ENST00000464960.5:n.406+2798_406+2807delinsCCGCGCCCGG
ENST00000467227.5:n.123-3996_123-3987delinsCCGCGCCCGG
ENST00000467321.5:n.154+2570_154+2579delinsCCGCGCCCGG
ENST00000468895.5:n.50+2708_50+2717delinsCCGCGCCCGG
ENST00000469431.5:n.256+2210_256+2219delinsCCGCGCCCGG
ENST00000470512.5:n.210+2263_210+2272delinsCCGCGCCCGG
ENST00000472183.5:n.392-3996_392-3987delinsCCGCGCCCGG
ENST00000477931.5:n.254+2263_254+2272delinsCCGCGCCCGG
ENST00000478585.5:n.194+2263_194+2272delinsCCGCGCCCGG
ENST00000480232.5:n.155+2067_155+2076delinsCCGCGCCCGG
ENST00000480975.5:n.183+2263_183+2272delinsCCGCGCCCGG
ENST00000481039.5:n.56+2712_56+2721delinsCCGCGCCCGG
ENST00000481768.5:n.1324-3996_1324-3987delinsCCGCGCCCGG
ENST00000482112.5:n.259-3996_259-3987delinsCCGCGCCCGG
ENST00000484504.5:n.127+2263_127+2272delinsCCGCGCCCGG
ENST00000485673.5:n.426+2067_426+2076delinsCCGCGCCCGG
ENST00000488546.5:n.40+2798_40+2807delinsCCGCGCCCGG
ENST00000490374.5:n.255-3996_255-3987delinsCCGCGCCCGG
ENST00000491348.5:n.534-3996_534-3987delinsCCGCGCCCGG
ENST00000493744.5:n.233-3996_233-3987delinsCCGCGCCCGG
ENST00000604005.5:c.-39+2284_-39+2293delinsCCGCGCCCGG ENSP00000474219.1:n.-39+2284_-39+2293delinsCCGCGCCCGG
NM_000516.4:c.-111_-102delinsCCGCGCCCGG NP_000507.1:n.-111_-102delinsCCGCGCCCGG
NM_000516.5:c.-111_-102delinsCCGCGCCCGG NP_000507.1:n.-111_-102delinsCCGCGCCCGG
NM_001077488.2:c.-111_-102delinsCCGCGCCCGG NP_001070956.1:n.-111_-102delinsCCGCGCCCGG
NM_001077488.3:c.-111_-102delinsCCGCGCCCGG NP_001070956.1:n.-111_-102delinsCCGCGCCCGG
NM_001077489.2:c.-111_-102delinsCCGCGCCCGG NP_001070957.1:n.-111_-102delinsCCGCGCCCGG
NM_001077489.3:c.-111_-102delinsCCGCGCCCGG NP_001070957.1:n.-111_-102delinsCCGCGCCCGG
NM_001077490.1:c.*1-3996_*1-3987delinsCCGCGCCCGG NP_001070958.1:n.*1-3996_*1-3987delinsCCGCGCCCGG
NM_001077490.2:c.*1-3996_*1-3987delinsCCGCGCCCGG NP_001070958.1:n.*1-3996_*1-3987delinsCCGCGCCCGG
NM_001309840.1:c.-39+2263_-39+2272delinsCCGCGCCCGG NP_001296769.1:n.-39+2263_-39+2272delinsCCGCGCCCGG
NM_001309842.1:c.-111_-102delinsCCGCGCCCGG NP_001296771.1:n.-111_-102delinsCCGCGCCCGG
NM_001309861.1:c.-38-3996_-38-3987delinsCCGCGCCCGG NP_001296790.1:n.-38-3996_-38-3987delinsCCGCGCCCGG
NM_001309883.1:c.*159-3996_*159-3987delinsCCGCGCCCGG NP_001296812.1:n.*159-3996_*159-3987delinsCCGCGCCCGG
NM_016592.2:c.*43-3996_*43-3987delinsCCGCGCCCGG NP_057676.1:n.*43-3996_*43-3987delinsCCGCGCCCGG
NM_016592.3:c.*43-3996_*43-3987delinsCCGCGCCCGG NP_057676.1:n.*43-3996_*43-3987delinsCCGCGCCCGG
NM_080425.2:c.2069-3996_2069-3987delinsCCGCGCCCGG NP_536350.2:n.2069-3996_2069-3987delinsCCGCGCCCGG
NM_080425.3:c.2069-3996_2069-3987delinsCCGCGCCCGG NP_536350.2:n.2069-3996_2069-3987delinsCCGCGCCCGG
NM_080426.2:c.-111_-102delinsCCGCGCCCGG NP_536351.1:n.-111_-102delinsCCGCGCCCGG
NM_080426.3:c.-111_-102delinsCCGCGCCCGG NP_536351.1:n.-111_-102delinsCCGCGCCCGG
NR_003259.1:c.-4294967067+2263_-4294967067+2272delinsCCGCGCCCGG
NR_132273.1:n.406+2798_406+2807delinsCCGCGCCCGG
XM_017027812.2:c.2069-3996_2069-3987delinsCCGCGCCCGG XP_016883301.1:n.2069-3996_2069-3987delinsCCGCGCCCGG
XM_017027813.2:c.2069-3996_2069-3987delinsCCGCGCCCGG XP_016883302.1:n.2069-3996_2069-3987delinsCCGCGCCCGG
XM_017027814.2:c.2069-3996_2069-3987delinsCCGCGCCCGG XP_016883303.1:n.2069-3996_2069-3987delinsCCGCGCCCGG
XM_017027815.1:c.44-3996_44-3987delinsCCGCGCCCGG XP_016883304.1:n.44-3996_44-3987delinsCCGCGCCCGG
XM_017027816.1:c.-415_-406delinsCCGCGCCCGG XP_016883305.1:n.-415_-406delinsCCGCGCCCGG
XM_017027817.1:c.-39+2263_-39+2272delinsCCGCGCCCGG XP_016883306.1:n.-39+2263_-39+2272delinsCCGCGCCCGG
XM_017027819.1:c.-39+2284_-39+2293delinsCCGCGCCCGG XP_016883308.1:n.-39+2284_-39+2293delinsCCGCGCCCGG
XM_017027821.1:c.*43-3996_*43-3987delinsCCGCGCCCGG XP_016883310.1:n.*43-3996_*43-3987delinsCCGCGCCCGG
XM_017027822.1:c.*43-3996_*43-3987delinsCCGCGCCCGG XP_016883311.1:n.*43-3996_*43-3987delinsCCGCGCCCGG
XM_024451872.1:c.44-3996_44-3987delinsCCGCGCCCGG XP_024307640.1:n.44-3996_44-3987delinsCCGCGCCCGG
XM_024451875.1:c.-39+2284_-39+2293delinsCCGCGCCCGG XP_024307643.1:n.-39+2284_-39+2293delinsCCGCGCCCGG
XR_002958471.1:n.515_524delinsCCGCGCCCGG
NM_000516.6:c.-111_-102delinsCCGCGCCCGG NP_000507.1:n.-111_-102delinsCCGCGCCCGG
NM_001077488.4:c.-111_-102delinsCCGCGCCCGG NP_001070956.1:n.-111_-102delinsCCGCGCCCGG
NM_001077489.4:c.-111_-102delinsCCGCGCCCGG NP_001070957.1:n.-111_-102delinsCCGCGCCCGG
NM_001309840.2:c.-39+2263_-39+2272delinsCCGCGCCCGG NP_001296769.1:n.-39+2263_-39+2272delinsCCGCGCCCGG
NM_001309842.2:c.-111_-102delinsCCGCGCCCGG NP_001296771.1:n.-111_-102delinsCCGCGCCCGG
NM_001309861.2:c.-38-3996_-38-3987delinsCCGCGCCCGG NP_001296790.1:n.-38-3996_-38-3987delinsCCGCGCCCGG
NM_016592.4:c.*43-3996_*43-3987delinsCCGCGCCCGG NP_057676.1:n.*43-3996_*43-3987delinsCCGCGCCCGG
NM_080426.4:c.-111_-102delinsCCGCGCCCGG NP_536351.1:n.-111_-102delinsCCGCGCCCGG
NM_000516.7:c.-111_-102delinsCCGCGCCCGG MANE Select NP_000507.1:n.-111_-102delinsCCGCGCCCGG
NM_001077488.5:c.-111_-102delinsCCGCGCCCGG NP_001070956.1:n.-111_-102delinsCCGCGCCCGG
NM_001077490.3:c.*1-3996_*1-3987delinsCCGCGCCCGG NP_001070958.1:n.*1-3996_*1-3987delinsCCGCGCCCGG
NM_016592.5:c.*43-3996_*43-3987delinsCCGCGCCCGG MANE Plus Clinical NP_057676.1:n.*43-3996_*43-3987delinsCCGCGCCCGG
NM_080425.4:c.2069-3996_2069-3987delinsCCGCGCCCGG MANE Plus Clinical NP_536350.2:n.2069-3996_2069-3987delinsCCGCGCCCGG
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