Canonical Allele Identifier: CA2372524421
Gene: GNAS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58899872_58899877delinsCGGGGA , CM000682.2:g.58899872_58899877delinsCGGGGA GRCh38
NC_000020.10:g.57474927_57474932delinsCGGGGA , CM000682.1:g.57474927_57474932delinsCGGGGA GRCh37
NC_000020.9:g.56908322_56908327delinsCGGGGA NCBI36
NG_016194.1:g.65133_65138delinsCGGGGA
NG_016194.2:g.65133_65138delinsCGGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2142-3659_2142-3654delinsCGGGGA ENSP00000265621.6:n.2142-3659_2142-3654delinsCGGGGA
ENST00000419558.7:c.*116-3659_*116-3654delinsCGGGGA ENSP00000416234.2:n.*116-3659_*116-3654delinsCGGGGA
ENST00000423897.7:c.2187-77_2187-72delinsCGGGGA ENSP00000412356.2:n.2187-77_2187-72delinsCGGGGA
ENST00000453292.7:c.854-3656_854-3651delinsCGGGGA ENSP00000392000.2:n.854-3656_854-3651delinsCGGGGA
ENST00000462499.6:c.36-3656_36-3651delinsCGGGGA ENSP00000499758.2:n.36-3656_36-3651delinsCGGGGA
ENST00000464624.7:c.*99+887_*99+892delinsCGGGGA ENSP00000499607.2:n.*99+887_*99+892delinsCGGGGA
ENST00000464788.6:c.80+887_80+892delinsCGGGGA ENSP00000499239.2:n.80+887_80+892delinsCGGGGA
ENST00000467227.6:c.36-3656_36-3651delinsCGGGGA ENSP00000499681.2:n.36-3656_36-3651delinsCGGGGA
ENST00000467321.6:c.80+887_80+892delinsCGGGGA ENSP00000499523.2:n.80+887_80+892delinsCGGGGA
ENST00000468895.6:c.257+887_257+892delinsCGGGGA ENSP00000499551.2:n.257+887_257+892delinsCGGGGA
ENST00000469431.6:c.80+887_80+892delinsCGGGGA ENSP00000499654.2:n.80+887_80+892delinsCGGGGA
ENST00000470512.6:c.80+887_80+892delinsCGGGGA ENSP00000499552.2:n.80+887_80+892delinsCGGGGA
ENST00000472183.6:c.80+887_80+892delinsCGGGGA ENSP00000499673.2:n.80+887_80+892delinsCGGGGA
ENST00000476935.6:c.36-3659_36-3654delinsCGGGGA ENSP00000499409.2:n.36-3659_36-3654delinsCGGGGA
ENST00000478585.6:c.36-3656_36-3651delinsCGGGGA ENSP00000499762.2:n.36-3656_36-3651delinsCGGGGA
ENST00000480232.6:c.80+887_80+892delinsCGGGGA ENSP00000499545.2:n.80+887_80+892delinsCGGGGA
ENST00000481039.6:c.36-3656_36-3651delinsCGGGGA ENSP00000499767.2:n.36-3656_36-3651delinsCGGGGA
ENST00000482112.6:c.36-3659_36-3654delinsCGGGGA ENSP00000499794.2:n.36-3659_36-3654delinsCGGGGA
ENST00000483387.2:n.756-77_756-72delinsCGGGGA
ENST00000485673.6:c.36-3656_36-3651delinsCGGGGA ENSP00000499334.2:n.36-3656_36-3651delinsCGGGGA
ENST00000488546.6:c.36-3656_36-3651delinsCGGGGA ENSP00000499332.2:n.36-3656_36-3651delinsCGGGGA
ENST00000488652.6:c.80+887_80+892delinsCGGGGA ENSP00000499435.2:n.80+887_80+892delinsCGGGGA
ENST00000492907.6:c.36-3656_36-3651delinsCGGGGA ENSP00000499443.2:n.36-3656_36-3651delinsCGGGGA
ENST00000603546.2:c.80+887_80+892delinsCGGGGA ENSP00000474802.2:n.80+887_80+892delinsCGGGGA
ENST00000604005.6:c.80+887_80+892delinsCGGGGA ENSP00000474219.2:n.80+887_80+892delinsCGGGGA
ENST00000663479.2:c.80+887_80+892delinsCGGGGA ENSP00000499353.2:n.80+887_80+892delinsCGGGGA
ENST00000667293.2:c.80+887_80+892delinsCGGGGA ENSP00000499293.2:n.80+887_80+892delinsCGGGGA
ENST00000676826.2:c.2186+887_2186+892delinsCGGGGA ENSP00000504675.2:n.2186+887_2186+892delinsCGGGGA
ENST00000682134.1:n.2183+887_2183+892delinsCGGGGA
ENST00000682803.1:c.-71+710_-71+715delinsCGGGGA ENSP00000507069.1:n.-71+710_-71+715delinsCGGGGA
ENST00000682829.1:n.2586-3659_2586-3654delinsCGGGGA
ENST00000683015.1:c.1027+887_1027+892delinsCGGGGA ENSP00000506815.1:n.1027+887_1027+892delinsCGGGGA
ENST00000684284.1:n.2635+887_2635+892delinsCGGGGA
ENST00000306090.12:c.161+887_161+892delinsCGGGGA ENSP00000304472.12:n.161+887_161+892delinsCGGGGA
ENST00000338783.7:c.213-77_213-72delinsCGGGGA ENSP00000345971.7:n.213-77_213-72delinsCGGGGA
ENST00000349036.8:c.2142-3659_2142-3654delinsCGGGGA ENSP00000265621.5:n.2142-3659_2142-3654delinsCGGGGA
ENST00000354359.12:c.257+887_257+892delinsCGGGGA ENSP00000346328.7:n.257+887_257+892delinsCGGGGA
ENST00000371085.8:c.257+887_257+892delinsCGGGGA MANE Select ENSP00000360126.3:n.257+887_257+892delinsCGGGGA
ENST00000371100.9:c.2186+887_2186+892delinsCGGGGA MANE Plus Clinical ENSP00000360141.3:n.2186+887_2186+892delinsCGGGGA
ENST00000419558.6:c.*116-3659_*116-3654delinsCGGGGA ENSP00000416234.2:n.*116-3659_*116-3654delinsCGGGGA
ENST00000423897.6:c.2187-77_2187-72delinsCGGGGA ENSP00000412356.2:n.2187-77_2187-72delinsCGGGGA
ENST00000453292.6:c.*116-3656_*116-3651delinsCGGGGA ENSP00000392000.2:n.*116-3656_*116-3651delinsCGGGGA
ENST00000461152.6:c.983-3656_983-3651delinsCGGGGA ENSP00000499274.1:n.983-3656_983-3651delinsCGGGGA
ENST00000481768.6:c.*86-77_*86-72delinsCGGGGA ENSP00000499644.2:n.*86-77_*86-72delinsCGGGGA
ENST00000490374.6:n.341-77_341-72delinsCGGGGA
ENST00000657090.1:c.80+887_80+892delinsCGGGGA ENSP00000499380.1:n.80+887_80+892delinsCGGGGA
ENST00000663479.1:c.80+887_80+892delinsCGGGGA ENSP00000499353.1:n.80+887_80+892delinsCGGGGA
ENST00000667293.1:c.128+887_128+892delinsCGGGGA ENSP00000499293.1:n.128+887_128+892delinsCGGGGA
ENST00000676826.1:c.2186+887_2186+892delinsCGGGGA ENSP00000504675.1:n.2186+887_2186+892delinsCGGGGA
ENST00000265620.11:c.213-3659_213-3654delinsCGGGGA ENSP00000265620.7:n.213-3659_213-3654delinsCGGGGA
ENST00000306090.11:c.93+8053_93+8058delinsCGGGGA ENSP00000304472.11:n.93+8053_93+8058delinsCGGGGA
ENST00000313949.11:c.*160+887_*160+892delinsCGGGGA ENSP00000323571.7:n.*160+887_*160+892delinsCGGGGA
ENST00000338783.6:c.180-77_180-72delinsCGGGGA ENSP00000345971.6:n.180-77_180-72delinsCGGGGA
ENST00000349036.7:c.305+887_305+892delinsCGGGGA ENSP00000265621.4:n.305+887_305+892delinsCGGGGA
ENST00000354359.11:c.257+887_257+892delinsCGGGGA ENSP00000346328.7:n.257+887_257+892delinsCGGGGA
ENST00000371075.7:c.*160+887_*160+892delinsCGGGGA MANE Plus Clinical ENSP00000360115.3:n.*160+887_*160+892delinsCGGGGA
ENST00000371081.5:c.258-77_258-72delinsCGGGGA ENSP00000360122.1:n.258-77_258-72delinsCGGGGA
ENST00000371085.7:c.257+887_257+892delinsCGGGGA ENSP00000360126.3:n.257+887_257+892delinsCGGGGA
ENST00000371095.7:c.213-3656_213-3651delinsCGGGGA ENSP00000360136.3:n.213-3656_213-3651delinsCGGGGA
ENST00000371098.6:c.*161-77_*161-72delinsCGGGGA ENSP00000360139.2:n.*161-77_*161-72delinsCGGGGA
ENST00000371100.8:c.2186+887_2186+892delinsCGGGGA ENSP00000360141.3:n.2186+887_2186+892delinsCGGGGA
ENST00000371102.8:c.2142-3656_2142-3651delinsCGGGGA ENSP00000360143.4:n.2142-3656_2142-3651delinsCGGGGA
ENST00000419558.5:c.457-3659_457-3654delinsCGGGGA
ENST00000423897.5:c.275-77_275-72delinsCGGGGA
ENST00000450130.5:c.301-3659_301-3654delinsCGGGGA
ENST00000453292.5:c.617-3656_617-3651delinsCGGGGA ENSP00000392000.1:n.617-3656_617-3651delinsCGGGGA
ENST00000461152.5:n.221-3656_221-3651delinsCGGGGA
ENST00000462499.5:n.332-3656_332-3651delinsCGGGGA
ENST00000464624.6:n.2473+887_2473+892delinsCGGGGA
ENST00000464788.5:n.185+887_185+892delinsCGGGGA
ENST00000464960.5:n.525-77_525-72delinsCGGGGA
ENST00000467227.5:n.196-3656_196-3651delinsCGGGGA
ENST00000467321.5:n.272+887_272+892delinsCGGGGA
ENST00000468895.5:n.124-3656_124-3651delinsCGGGGA
ENST00000469431.5:n.374+887_374+892delinsCGGGGA
ENST00000470512.5:n.328+887_328+892delinsCGGGGA
ENST00000472183.5:n.509+887_509+892delinsCGGGGA
ENST00000476935.5:n.247-3659_247-3654delinsCGGGGA
ENST00000477931.5:n.372+887_372+892delinsCGGGGA
ENST00000478585.5:n.268-3656_268-3651delinsCGGGGA
ENST00000480232.5:n.273+887_273+892delinsCGGGGA
ENST00000480975.5:n.257-3659_257-3654delinsCGGGGA
ENST00000481039.5:n.174+887_174+892delinsCGGGGA
ENST00000481768.5:n.1442-77_1442-72delinsCGGGGA
ENST00000482112.5:n.332-3659_332-3654delinsCGGGGA
ENST00000483387.1:n.567+887_567+892delinsCGGGGA
ENST00000484504.5:n.201-77_201-72delinsCGGGGA
ENST00000485673.5:n.500-3656_500-3651delinsCGGGGA
ENST00000487862.5:n.489-3656_489-3651delinsCGGGGA
ENST00000488546.5:n.114-3656_114-3651delinsCGGGGA
ENST00000488652.5:n.347+887_347+892delinsCGGGGA
ENST00000490374.5:n.372+887_372+892delinsCGGGGA
ENST00000491348.5:n.607-77_607-72delinsCGGGGA
ENST00000492907.5:n.206-3656_206-3651delinsCGGGGA
ENST00000493744.5:n.351-77_351-72delinsCGGGGA
ENST00000496934.5:n.1546+887_1546+892delinsCGGGGA
ENST00000603546.1:c.80+887_80+892delinsCGGGGA ENSP00000474802.1:n.80+887_80+892delinsCGGGGA
ENST00000604005.5:c.80+887_80+892delinsCGGGGA ENSP00000474219.1:n.80+887_80+892delinsCGGGGA
NM_000516.4:c.257+887_257+892delinsCGGGGA NP_000507.1:n.257+887_257+892delinsCGGGGA
NM_000516.5:c.257+887_257+892delinsCGGGGA NP_000507.1:n.257+887_257+892delinsCGGGGA
NM_001077488.2:c.257+887_257+892delinsCGGGGA NP_001070956.1:n.257+887_257+892delinsCGGGGA
NM_001077488.3:c.257+887_257+892delinsCGGGGA NP_001070956.1:n.257+887_257+892delinsCGGGGA
NM_001077489.2:c.213-3659_213-3654delinsCGGGGA NP_001070957.1:n.213-3659_213-3654delinsCGGGGA
NM_001077489.3:c.213-3659_213-3654delinsCGGGGA NP_001070957.1:n.213-3659_213-3654delinsCGGGGA
NM_001077490.1:c.*118+887_*118+892delinsCGGGGA NP_001070958.1:n.*118+887_*118+892delinsCGGGGA
NM_001077490.2:c.*118+887_*118+892delinsCGGGGA NP_001070958.1:n.*118+887_*118+892delinsCGGGGA
NM_001309840.1:c.80+887_80+892delinsCGGGGA NP_001296769.1:n.80+887_80+892delinsCGGGGA
NM_001309842.1:c.258-77_258-72delinsCGGGGA NP_001296771.1:n.258-77_258-72delinsCGGGGA
NM_001309861.1:c.80+887_80+892delinsCGGGGA NP_001296790.1:n.80+887_80+892delinsCGGGGA
NM_001309883.1:c.*277-77_*277-72delinsCGGGGA NP_001296812.1:n.*277-77_*277-72delinsCGGGGA
NM_016592.2:c.*160+887_*160+892delinsCGGGGA NP_057676.1:n.*160+887_*160+892delinsCGGGGA
NM_016592.3:c.*160+887_*160+892delinsCGGGGA NP_057676.1:n.*160+887_*160+892delinsCGGGGA
NM_080425.2:c.2186+887_2186+892delinsCGGGGA NP_536350.2:n.2186+887_2186+892delinsCGGGGA
NM_080425.3:c.2186+887_2186+892delinsCGGGGA NP_536350.2:n.2186+887_2186+892delinsCGGGGA
NM_080426.2:c.213-3656_213-3651delinsCGGGGA NP_536351.1:n.213-3656_213-3651delinsCGGGGA
NM_080426.3:c.213-3656_213-3651delinsCGGGGA NP_536351.1:n.213-3656_213-3651delinsCGGGGA
NR_003259.1:c.-4294966949+887_-4294966949+892delinsCGGGGA
NR_132272.1:n.165-77_165-72delinsCGGGGA
NR_132273.1:n.525-77_525-72delinsCGGGGA
XM_017027812.2:c.2186+887_2186+892delinsCGGGGA XP_016883301.1:n.2186+887_2186+892delinsCGGGGA
XM_017027813.2:c.2142-3656_2142-3651delinsCGGGGA XP_016883302.1:n.2142-3656_2142-3651delinsCGGGGA
XM_017027814.2:c.2142-3659_2142-3654delinsCGGGGA XP_016883303.1:n.2142-3659_2142-3654delinsCGGGGA
XM_017027815.1:c.117-3659_117-3654delinsCGGGGA XP_016883304.1:n.117-3659_117-3654delinsCGGGGA
XM_017027816.1:c.-47-77_-47-72delinsCGGGGA XP_016883305.1:n.-47-77_-47-72delinsCGGGGA
XM_017027817.1:c.36-3659_36-3654delinsCGGGGA XP_016883306.1:n.36-3659_36-3654delinsCGGGGA
XM_017027818.2:c.36-3659_36-3654delinsCGGGGA XP_016883307.1:n.36-3659_36-3654delinsCGGGGA
XM_017027819.1:c.36-3659_36-3654delinsCGGGGA XP_016883308.1:n.36-3659_36-3654delinsCGGGGA
XM_017027820.1:c.-47-77_-47-72delinsCGGGGA XP_016883309.1:n.-47-77_-47-72delinsCGGGGA
XM_017027821.1:c.*160+887_*160+892delinsCGGGGA XP_016883310.1:n.*160+887_*160+892delinsCGGGGA
XM_017027822.1:c.*116-3659_*116-3654delinsCGGGGA XP_016883311.1:n.*116-3659_*116-3654delinsCGGGGA
XM_024451872.1:c.161+887_161+892delinsCGGGGA XP_024307640.1:n.161+887_161+892delinsCGGGGA
XM_024451873.1:c.80+887_80+892delinsCGGGGA XP_024307641.1:n.80+887_80+892delinsCGGGGA
XM_024451874.1:c.80+887_80+892delinsCGGGGA XP_024307642.1:n.80+887_80+892delinsCGGGGA
XM_024451875.1:c.80+887_80+892delinsCGGGGA XP_024307643.1:n.80+887_80+892delinsCGGGGA
XR_002958471.1:n.883-77_883-72delinsCGGGGA
NM_000516.6:c.257+887_257+892delinsCGGGGA NP_000507.1:n.257+887_257+892delinsCGGGGA
NM_001077488.4:c.257+887_257+892delinsCGGGGA NP_001070956.1:n.257+887_257+892delinsCGGGGA
NM_001077489.4:c.213-3659_213-3654delinsCGGGGA NP_001070957.1:n.213-3659_213-3654delinsCGGGGA
NM_001309840.2:c.80+887_80+892delinsCGGGGA NP_001296769.1:n.80+887_80+892delinsCGGGGA
NM_001309842.2:c.258-77_258-72delinsCGGGGA NP_001296771.1:n.258-77_258-72delinsCGGGGA
NM_001309861.2:c.80+887_80+892delinsCGGGGA NP_001296790.1:n.80+887_80+892delinsCGGGGA
NM_016592.4:c.*160+887_*160+892delinsCGGGGA NP_057676.1:n.*160+887_*160+892delinsCGGGGA
NM_080426.4:c.213-3656_213-3651delinsCGGGGA NP_536351.1:n.213-3656_213-3651delinsCGGGGA
NR_132272.2:n.166-77_166-72delinsCGGGGA
NM_000516.7:c.257+887_257+892delinsCGGGGA MANE Select NP_000507.1:n.257+887_257+892delinsCGGGGA
NM_001077488.5:c.257+887_257+892delinsCGGGGA NP_001070956.1:n.257+887_257+892delinsCGGGGA
NM_001077490.3:c.*118+887_*118+892delinsCGGGGA NP_001070958.1:n.*118+887_*118+892delinsCGGGGA
NM_016592.5:c.*160+887_*160+892delinsCGGGGA MANE Plus Clinical NP_057676.1:n.*160+887_*160+892delinsCGGGGA
NM_080425.4:c.2186+887_2186+892delinsCGGGGA MANE Plus Clinical NP_536350.2:n.2186+887_2186+892delinsCGGGGA
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