Canonical Allele Identifier: CA2372524511
Gene: GNAS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58900077_58900078delinsGA , CM000682.2:g.58900077_58900078delinsGA GRCh38
NC_000020.10:g.57475132_57475133delinsGA , CM000682.1:g.57475132_57475133delinsGA GRCh37
NC_000020.9:g.56908527_56908528delinsGA NCBI36
NG_016194.1:g.65338_65339delinsGA
NG_016194.2:g.65338_65339delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2142-3454_2142-3453delinsGA ENSP00000265621.6:n.2142-3454_2142-3453delinsGA
ENST00000419558.7:c.*116-3454_*116-3453delinsGA ENSP00000416234.2:n.*116-3454_*116-3453delinsGA
ENST00000423897.7:c.2315_2316delinsGA ENSP00000412356.2:n.2315_2316delinsGA
ENST00000453292.7:c.854-3451_854-3450delinsGA ENSP00000392000.2:n.854-3451_854-3450delinsGA
ENST00000462499.6:c.36-3451_36-3450delinsGA ENSP00000499758.2:n.36-3451_36-3450delinsGA
ENST00000464624.7:c.*99+1092_*99+1093delinsGA ENSP00000499607.2:n.*99+1092_*99+1093delinsGA
ENST00000464788.6:c.80+1092_80+1093delinsGA ENSP00000499239.2:n.80+1092_80+1093delinsGA
ENST00000467227.6:c.36-3451_36-3450delinsGA ENSP00000499681.2:n.36-3451_36-3450delinsGA
ENST00000467321.6:c.80+1092_80+1093delinsGA ENSP00000499523.2:n.80+1092_80+1093delinsGA
ENST00000468895.6:c.257+1092_257+1093delinsGA ENSP00000499551.2:n.257+1092_257+1093delinsGA
ENST00000469431.6:c.80+1092_80+1093delinsGA ENSP00000499654.2:n.80+1092_80+1093delinsGA
ENST00000470512.6:c.80+1092_80+1093delinsGA ENSP00000499552.2:n.80+1092_80+1093delinsGA
ENST00000472183.6:c.80+1092_80+1093delinsGA ENSP00000499673.2:n.80+1092_80+1093delinsGA
ENST00000476935.6:c.36-3454_36-3453delinsGA ENSP00000499409.2:n.36-3454_36-3453delinsGA
ENST00000478585.6:c.36-3451_36-3450delinsGA ENSP00000499762.2:n.36-3451_36-3450delinsGA
ENST00000480232.6:c.80+1092_80+1093delinsGA ENSP00000499545.2:n.80+1092_80+1093delinsGA
ENST00000481039.6:c.36-3451_36-3450delinsGA ENSP00000499767.2:n.36-3451_36-3450delinsGA
ENST00000482112.6:c.36-3454_36-3453delinsGA ENSP00000499794.2:n.36-3454_36-3453delinsGA
ENST00000483387.2:n.884_885delinsGA
ENST00000485673.6:c.36-3451_36-3450delinsGA ENSP00000499334.2:n.36-3451_36-3450delinsGA
ENST00000488546.6:c.36-3451_36-3450delinsGA ENSP00000499332.2:n.36-3451_36-3450delinsGA
ENST00000488652.6:c.80+1092_80+1093delinsGA ENSP00000499435.2:n.80+1092_80+1093delinsGA
ENST00000492907.6:c.36-3451_36-3450delinsGA ENSP00000499443.2:n.36-3451_36-3450delinsGA
ENST00000603546.2:c.80+1092_80+1093delinsGA ENSP00000474802.2:n.80+1092_80+1093delinsGA
ENST00000604005.6:c.80+1092_80+1093delinsGA ENSP00000474219.2:n.80+1092_80+1093delinsGA
ENST00000663479.2:c.80+1092_80+1093delinsGA ENSP00000499353.2:n.80+1092_80+1093delinsGA
ENST00000667293.2:c.80+1092_80+1093delinsGA ENSP00000499293.2:n.80+1092_80+1093delinsGA
ENST00000676826.2:c.2186+1092_2186+1093delinsGA ENSP00000504675.2:n.2186+1092_2186+1093delinsGA
ENST00000682134.1:n.2183+1092_2183+1093delinsGA
ENST00000682803.1:c.-71+915_-71+916delinsGA ENSP00000507069.1:n.-71+915_-71+916delinsGA
ENST00000682829.1:n.2586-3454_2586-3453delinsGA
ENST00000683015.1:c.1027+1092_1027+1093delinsGA ENSP00000506815.1:n.1027+1092_1027+1093delinsGA
ENST00000684284.1:n.2635+1092_2635+1093delinsGA
ENST00000306090.12:c.161+1092_161+1093delinsGA ENSP00000304472.12:n.161+1092_161+1093delinsGA
ENST00000338783.7:c.341_342delinsGA ENSP00000345971.7:n.341_342delinsGA
ENST00000349036.8:c.2142-3454_2142-3453delinsGA ENSP00000265621.5:n.2142-3454_2142-3453delinsGA
ENST00000354359.12:c.257+1092_257+1093delinsGA ENSP00000346328.7:n.257+1092_257+1093delinsGA
ENST00000371085.8:c.257+1092_257+1093delinsGA MANE Select ENSP00000360126.3:n.257+1092_257+1093delinsGA
ENST00000371100.9:c.2186+1092_2186+1093delinsGA MANE Plus Clinical ENSP00000360141.3:n.2186+1092_2186+1093delinsGA
ENST00000419558.6:c.*116-3454_*116-3453delinsGA ENSP00000416234.2:n.*116-3454_*116-3453delinsGA
ENST00000423897.6:c.*122_*123delinsGA ENSP00000412356.2:n.*122_*123delinsGA
ENST00000453292.6:c.*116-3451_*116-3450delinsGA ENSP00000392000.2:n.*116-3451_*116-3450delinsGA
ENST00000461152.6:c.983-3451_983-3450delinsGA ENSP00000499274.1:n.983-3451_983-3450delinsGA
ENST00000481768.6:c.*214_*215delinsGA ENSP00000499644.2:n.*214_*215delinsGA
ENST00000490374.6:n.422+47_422+48delinsGA
ENST00000657090.1:c.80+1092_80+1093delinsGA ENSP00000499380.1:n.80+1092_80+1093delinsGA
ENST00000663479.1:c.80+1092_80+1093delinsGA ENSP00000499353.1:n.80+1092_80+1093delinsGA
ENST00000667293.1:c.128+1092_128+1093delinsGA ENSP00000499293.1:n.128+1092_128+1093delinsGA
ENST00000676826.1:c.2186+1092_2186+1093delinsGA ENSP00000504675.1:n.2186+1092_2186+1093delinsGA
ENST00000265620.11:c.213-3454_213-3453delinsGA ENSP00000265620.7:n.213-3454_213-3453delinsGA
ENST00000306090.11:c.93+8258_93+8259delinsGA ENSP00000304472.11:n.93+8258_93+8259delinsGA
ENST00000313949.11:c.*160+1092_*160+1093delinsGA ENSP00000323571.7:n.*160+1092_*160+1093delinsGA
ENST00000338783.6:c.308_309delinsGA ENSP00000345971.6:n.308_309delinsGA
ENST00000349036.7:c.305+1092_305+1093delinsGA ENSP00000265621.4:n.305+1092_305+1093delinsGA
ENST00000354359.11:c.257+1092_257+1093delinsGA ENSP00000346328.7:n.257+1092_257+1093delinsGA
ENST00000371075.7:c.*160+1092_*160+1093delinsGA MANE Plus Clinical ENSP00000360115.3:n.*160+1092_*160+1093delinsGA
ENST00000371081.5:c.*122_*123delinsGA ENSP00000360122.1:n.*122_*123delinsGA
ENST00000371085.7:c.257+1092_257+1093delinsGA ENSP00000360126.3:n.257+1092_257+1093delinsGA
ENST00000371095.7:c.213-3451_213-3450delinsGA ENSP00000360136.3:n.213-3451_213-3450delinsGA
ENST00000371098.6:c.*289_*290delinsGA ENSP00000360139.2:n.*289_*290delinsGA
ENST00000371100.8:c.2186+1092_2186+1093delinsGA ENSP00000360141.3:n.2186+1092_2186+1093delinsGA
ENST00000371102.8:c.2142-3451_2142-3450delinsGA ENSP00000360143.4:n.2142-3451_2142-3450delinsGA
ENST00000419558.5:c.457-3454_457-3453delinsGA
ENST00000423897.5:c.403_404delinsGA
ENST00000450130.5:c.301-3454_301-3453delinsGA
ENST00000453292.5:c.617-3451_617-3450delinsGA ENSP00000392000.1:n.617-3451_617-3450delinsGA
ENST00000461152.5:n.221-3451_221-3450delinsGA
ENST00000462499.5:n.332-3451_332-3450delinsGA
ENST00000464624.6:n.2473+1092_2473+1093delinsGA
ENST00000464788.5:n.185+1092_185+1093delinsGA
ENST00000464960.5:n.653_654delinsGA
ENST00000467227.5:n.196-3451_196-3450delinsGA
ENST00000467321.5:n.272+1092_272+1093delinsGA
ENST00000468895.5:n.124-3451_124-3450delinsGA
ENST00000469431.5:n.374+1092_374+1093delinsGA
ENST00000470512.5:n.328+1092_328+1093delinsGA
ENST00000472183.5:n.509+1092_509+1093delinsGA
ENST00000476935.5:n.247-3454_247-3453delinsGA
ENST00000477931.5:n.372+1092_372+1093delinsGA
ENST00000478585.5:n.268-3451_268-3450delinsGA
ENST00000480232.5:n.273+1092_273+1093delinsGA
ENST00000480975.5:n.257-3454_257-3453delinsGA
ENST00000481039.5:n.174+1092_174+1093delinsGA
ENST00000481768.5:n.1570_1571delinsGA
ENST00000482112.5:n.332-3454_332-3453delinsGA
ENST00000483387.1:n.567+1092_567+1093delinsGA
ENST00000484504.5:n.329_330delinsGA
ENST00000485673.5:n.500-3451_500-3450delinsGA
ENST00000487862.5:n.489-3451_489-3450delinsGA
ENST00000488546.5:n.114-3451_114-3450delinsGA
ENST00000488652.5:n.347+1092_347+1093delinsGA
ENST00000490374.5:n.372+1092_372+1093delinsGA
ENST00000491348.5:n.735_736delinsGA
ENST00000492907.5:n.206-3451_206-3450delinsGA
ENST00000493744.5:n.479_480delinsGA
ENST00000496934.5:n.1546+1092_1546+1093delinsGA
ENST00000603546.1:c.80+1092_80+1093delinsGA ENSP00000474802.1:n.80+1092_80+1093delinsGA
ENST00000604005.5:c.80+1092_80+1093delinsGA ENSP00000474219.1:n.80+1092_80+1093delinsGA
NM_000516.4:c.257+1092_257+1093delinsGA NP_000507.1:n.257+1092_257+1093delinsGA
NM_000516.5:c.257+1092_257+1093delinsGA NP_000507.1:n.257+1092_257+1093delinsGA
NM_001077488.2:c.257+1092_257+1093delinsGA NP_001070956.1:n.257+1092_257+1093delinsGA
NM_001077488.3:c.257+1092_257+1093delinsGA NP_001070956.1:n.257+1092_257+1093delinsGA
NM_001077489.2:c.213-3454_213-3453delinsGA NP_001070957.1:n.213-3454_213-3453delinsGA
NM_001077489.3:c.213-3454_213-3453delinsGA NP_001070957.1:n.213-3454_213-3453delinsGA
NM_001077490.1:c.*118+1092_*118+1093delinsGA NP_001070958.1:n.*118+1092_*118+1093delinsGA
NM_001077490.2:c.*118+1092_*118+1093delinsGA NP_001070958.1:n.*118+1092_*118+1093delinsGA
NM_001309840.1:c.80+1092_80+1093delinsGA NP_001296769.1:n.80+1092_80+1093delinsGA
NM_001309842.1:c.*122_*123delinsGA NP_001296771.1:n.*122_*123delinsGA
NM_001309861.1:c.80+1092_80+1093delinsGA NP_001296790.1:n.80+1092_80+1093delinsGA
NM_001309883.1:c.*405_*406delinsGA NP_001296812.1:n.*405_*406delinsGA
NM_016592.2:c.*160+1092_*160+1093delinsGA NP_057676.1:n.*160+1092_*160+1093delinsGA
NM_016592.3:c.*160+1092_*160+1093delinsGA NP_057676.1:n.*160+1092_*160+1093delinsGA
NM_080425.2:c.2186+1092_2186+1093delinsGA NP_536350.2:n.2186+1092_2186+1093delinsGA
NM_080425.3:c.2186+1092_2186+1093delinsGA NP_536350.2:n.2186+1092_2186+1093delinsGA
NM_080426.2:c.213-3451_213-3450delinsGA NP_536351.1:n.213-3451_213-3450delinsGA
NM_080426.3:c.213-3451_213-3450delinsGA NP_536351.1:n.213-3451_213-3450delinsGA
NR_003259.1:c.-4294966949+1092_-4294966949+1093delinsGA
NR_132272.1:n.293_294delinsGA
NR_132273.1:n.653_654delinsGA
XM_017027812.2:c.2186+1092_2186+1093delinsGA XP_016883301.1:n.2186+1092_2186+1093delinsGA
XM_017027813.2:c.2142-3451_2142-3450delinsGA XP_016883302.1:n.2142-3451_2142-3450delinsGA
XM_017027814.2:c.2142-3454_2142-3453delinsGA XP_016883303.1:n.2142-3454_2142-3453delinsGA
XM_017027815.1:c.117-3454_117-3453delinsGA XP_016883304.1:n.117-3454_117-3453delinsGA
XM_017027816.1:c.35+47_35+48delinsGA XP_016883305.1:n.35+47_35+48delinsGA
XM_017027817.1:c.36-3454_36-3453delinsGA XP_016883306.1:n.36-3454_36-3453delinsGA
XM_017027818.2:c.36-3454_36-3453delinsGA XP_016883307.1:n.36-3454_36-3453delinsGA
XM_017027819.1:c.36-3454_36-3453delinsGA XP_016883308.1:n.36-3454_36-3453delinsGA
XM_017027820.1:c.35+47_35+48delinsGA XP_016883309.1:n.35+47_35+48delinsGA
XM_017027821.1:c.*160+1092_*160+1093delinsGA XP_016883310.1:n.*160+1092_*160+1093delinsGA
XM_017027822.1:c.*116-3454_*116-3453delinsGA XP_016883311.1:n.*116-3454_*116-3453delinsGA
XM_024451872.1:c.161+1092_161+1093delinsGA XP_024307640.1:n.161+1092_161+1093delinsGA
XM_024451873.1:c.80+1092_80+1093delinsGA XP_024307641.1:n.80+1092_80+1093delinsGA
XM_024451874.1:c.80+1092_80+1093delinsGA XP_024307642.1:n.80+1092_80+1093delinsGA
XM_024451875.1:c.80+1092_80+1093delinsGA XP_024307643.1:n.80+1092_80+1093delinsGA
XR_002958471.1:n.964+47_964+48delinsGA
NM_000516.6:c.257+1092_257+1093delinsGA NP_000507.1:n.257+1092_257+1093delinsGA
NM_001077488.4:c.257+1092_257+1093delinsGA NP_001070956.1:n.257+1092_257+1093delinsGA
NM_001077489.4:c.213-3454_213-3453delinsGA NP_001070957.1:n.213-3454_213-3453delinsGA
NM_001309840.2:c.80+1092_80+1093delinsGA NP_001296769.1:n.80+1092_80+1093delinsGA
NM_001309842.2:c.*122_*123delinsGA NP_001296771.1:n.*122_*123delinsGA
NM_001309861.2:c.80+1092_80+1093delinsGA NP_001296790.1:n.80+1092_80+1093delinsGA
NM_016592.4:c.*160+1092_*160+1093delinsGA NP_057676.1:n.*160+1092_*160+1093delinsGA
NM_080426.4:c.213-3451_213-3450delinsGA NP_536351.1:n.213-3451_213-3450delinsGA
NR_132272.2:n.294_295delinsGA
NM_000516.7:c.257+1092_257+1093delinsGA MANE Select NP_000507.1:n.257+1092_257+1093delinsGA
NM_001077488.5:c.257+1092_257+1093delinsGA NP_001070956.1:n.257+1092_257+1093delinsGA
NM_001077490.3:c.*118+1092_*118+1093delinsGA NP_001070958.1:n.*118+1092_*118+1093delinsGA
NM_016592.5:c.*160+1092_*160+1093delinsGA MANE Plus Clinical NP_057676.1:n.*160+1092_*160+1093delinsGA
NM_080425.4:c.2186+1092_2186+1093delinsGA MANE Plus Clinical NP_536350.2:n.2186+1092_2186+1093delinsGA
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