Canonical Allele Identifier: CA2653524610
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58899831-T-TCTGGATG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58899831_58899832insCTGGATG , CM000682.2:g.58899831_58899832insCTGGATG GRCh38
NC_000020.10:g.57474886_57474887insCTGGATG , CM000682.1:g.57474886_57474887insCTGGATG GRCh37
NC_000020.9:g.56908281_56908282insCTGGATG NCBI36
NG_016194.1:g.65092_65093insCTGGATG
NG_016194.2:g.65092_65093insCTGGATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2142-3700_2142-3699insCTGGATG ENSP00000265621.6:n.2142-3700_2142-3699insCTGGATG
ENST00000419558.7:c.*116-3700_*116-3699insCTGGATG ENSP00000416234.2:n.*116-3700_*116-3699insCTGGATG
ENST00000423897.7:c.2187-118_2187-117insCTGGATG ENSP00000412356.2:n.2187-118_2187-117insCTGGATG
ENST00000453292.7:c.854-3697_854-3696insCTGGATG ENSP00000392000.2:n.854-3697_854-3696insCTGGATG
ENST00000462499.6:c.36-3697_36-3696insCTGGATG ENSP00000499758.2:n.36-3697_36-3696insCTGGATG
ENST00000464624.7:c.*99+846_*99+847insCTGGATG ENSP00000499607.2:n.*99+846_*99+847insCTGGATG
ENST00000464788.6:c.80+846_80+847insCTGGATG ENSP00000499239.2:n.80+846_80+847insCTGGATG
ENST00000467227.6:c.36-3697_36-3696insCTGGATG ENSP00000499681.2:n.36-3697_36-3696insCTGGATG
ENST00000467321.6:c.80+846_80+847insCTGGATG ENSP00000499523.2:n.80+846_80+847insCTGGATG
ENST00000468895.6:c.257+846_257+847insCTGGATG ENSP00000499551.2:n.257+846_257+847insCTGGATG
ENST00000469431.6:c.80+846_80+847insCTGGATG ENSP00000499654.2:n.80+846_80+847insCTGGATG
ENST00000470512.6:c.80+846_80+847insCTGGATG ENSP00000499552.2:n.80+846_80+847insCTGGATG
ENST00000472183.6:c.80+846_80+847insCTGGATG ENSP00000499673.2:n.80+846_80+847insCTGGATG
ENST00000476935.6:c.36-3700_36-3699insCTGGATG ENSP00000499409.2:n.36-3700_36-3699insCTGGATG
ENST00000478585.6:c.36-3697_36-3696insCTGGATG ENSP00000499762.2:n.36-3697_36-3696insCTGGATG
ENST00000480232.6:c.80+846_80+847insCTGGATG ENSP00000499545.2:n.80+846_80+847insCTGGATG
ENST00000481039.6:c.36-3697_36-3696insCTGGATG ENSP00000499767.2:n.36-3697_36-3696insCTGGATG
ENST00000482112.6:c.36-3700_36-3699insCTGGATG ENSP00000499794.2:n.36-3700_36-3699insCTGGATG
ENST00000483387.2:n.756-118_756-117insCTGGATG
ENST00000485673.6:c.36-3697_36-3696insCTGGATG ENSP00000499334.2:n.36-3697_36-3696insCTGGATG
ENST00000488546.6:c.36-3697_36-3696insCTGGATG ENSP00000499332.2:n.36-3697_36-3696insCTGGATG
ENST00000488652.6:c.80+846_80+847insCTGGATG ENSP00000499435.2:n.80+846_80+847insCTGGATG
ENST00000492907.6:c.36-3697_36-3696insCTGGATG ENSP00000499443.2:n.36-3697_36-3696insCTGGATG
ENST00000603546.2:c.80+846_80+847insCTGGATG ENSP00000474802.2:n.80+846_80+847insCTGGATG
ENST00000604005.6:c.80+846_80+847insCTGGATG ENSP00000474219.2:n.80+846_80+847insCTGGATG
ENST00000663479.2:c.80+846_80+847insCTGGATG ENSP00000499353.2:n.80+846_80+847insCTGGATG
ENST00000667293.2:c.80+846_80+847insCTGGATG ENSP00000499293.2:n.80+846_80+847insCTGGATG
ENST00000676826.2:c.2186+846_2186+847insCTGGATG ENSP00000504675.2:n.2186+846_2186+847insCTGGATG
ENST00000682134.1:n.2183+846_2183+847insCTGGATG
ENST00000682803.1:c.-71+669_-71+670insCTGGATG ENSP00000507069.1:n.-71+669_-71+670insCTGGATG
ENST00000682829.1:n.2586-3700_2586-3699insCTGGATG
ENST00000683015.1:c.1027+846_1027+847insCTGGATG ENSP00000506815.1:n.1027+846_1027+847insCTGGATG
ENST00000684284.1:n.2635+846_2635+847insCTGGATG
ENST00000306090.12:c.161+846_161+847insCTGGATG ENSP00000304472.12:n.161+846_161+847insCTGGATG
ENST00000338783.7:c.213-118_213-117insCTGGATG ENSP00000345971.7:n.213-118_213-117insCTGGATG
ENST00000349036.8:c.2142-3700_2142-3699insCTGGATG ENSP00000265621.5:n.2142-3700_2142-3699insCTGGATG
ENST00000354359.12:c.257+846_257+847insCTGGATG ENSP00000346328.7:n.257+846_257+847insCTGGATG
ENST00000371085.8:c.257+846_257+847insCTGGATG MANE Select ENSP00000360126.3:n.257+846_257+847insCTGGATG
ENST00000371100.9:c.2186+846_2186+847insCTGGATG MANE Plus Clinical ENSP00000360141.3:n.2186+846_2186+847insCTGGATG
ENST00000419558.6:c.*116-3700_*116-3699insCTGGATG ENSP00000416234.2:n.*116-3700_*116-3699insCTGGATG
ENST00000423897.6:c.2187-118_2187-117insCTGGATG ENSP00000412356.2:n.2187-118_2187-117insCTGGATG
ENST00000453292.6:c.*116-3697_*116-3696insCTGGATG ENSP00000392000.2:n.*116-3697_*116-3696insCTGGATG
ENST00000461152.6:c.983-3697_983-3696insCTGGATG ENSP00000499274.1:n.983-3697_983-3696insCTGGATG
ENST00000481768.6:c.*86-118_*86-117insCTGGATG ENSP00000499644.2:n.*86-118_*86-117insCTGGATG
ENST00000490374.6:n.341-118_341-117insCTGGATG
ENST00000657090.1:c.80+846_80+847insCTGGATG ENSP00000499380.1:n.80+846_80+847insCTGGATG
ENST00000663479.1:c.80+846_80+847insCTGGATG ENSP00000499353.1:n.80+846_80+847insCTGGATG
ENST00000667293.1:c.128+846_128+847insCTGGATG ENSP00000499293.1:n.128+846_128+847insCTGGATG
ENST00000676826.1:c.2186+846_2186+847insCTGGATG ENSP00000504675.1:n.2186+846_2186+847insCTGGATG
ENST00000265620.11:c.213-3700_213-3699insCTGGATG ENSP00000265620.7:n.213-3700_213-3699insCTGGATG
ENST00000306090.11:c.93+8012_93+8013insCTGGATG ENSP00000304472.11:n.93+8012_93+8013insCTGGATG
ENST00000313949.11:c.*160+846_*160+847insCTGGATG ENSP00000323571.7:n.*160+846_*160+847insCTGGATG
ENST00000338783.6:c.180-118_180-117insCTGGATG ENSP00000345971.6:n.180-118_180-117insCTGGATG
ENST00000349036.7:c.305+846_305+847insCTGGATG ENSP00000265621.4:n.305+846_305+847insCTGGATG
ENST00000354359.11:c.257+846_257+847insCTGGATG ENSP00000346328.7:n.257+846_257+847insCTGGATG
ENST00000371075.7:c.*160+846_*160+847insCTGGATG MANE Plus Clinical ENSP00000360115.3:n.*160+846_*160+847insCTGGATG
ENST00000371081.5:c.258-118_258-117insCTGGATG ENSP00000360122.1:n.258-118_258-117insCTGGATG
ENST00000371085.7:c.257+846_257+847insCTGGATG ENSP00000360126.3:n.257+846_257+847insCTGGATG
ENST00000371095.7:c.213-3697_213-3696insCTGGATG ENSP00000360136.3:n.213-3697_213-3696insCTGGATG
ENST00000371098.6:c.*161-118_*161-117insCTGGATG ENSP00000360139.2:n.*161-118_*161-117insCTGGATG
ENST00000371100.8:c.2186+846_2186+847insCTGGATG ENSP00000360141.3:n.2186+846_2186+847insCTGGATG
ENST00000371102.8:c.2142-3697_2142-3696insCTGGATG ENSP00000360143.4:n.2142-3697_2142-3696insCTGGATG
ENST00000419558.5:c.457-3700_457-3699insCTGGATG
ENST00000423897.5:c.275-118_275-117insCTGGATG
ENST00000450130.5:c.301-3700_301-3699insCTGGATG
ENST00000453292.5:c.617-3697_617-3696insCTGGATG ENSP00000392000.1:n.617-3697_617-3696insCTGGATG
ENST00000461152.5:n.221-3697_221-3696insCTGGATG
ENST00000462499.5:n.332-3697_332-3696insCTGGATG
ENST00000464624.6:n.2473+846_2473+847insCTGGATG
ENST00000464788.5:n.185+846_185+847insCTGGATG
ENST00000464960.5:n.525-118_525-117insCTGGATG
ENST00000467227.5:n.196-3697_196-3696insCTGGATG
ENST00000467321.5:n.272+846_272+847insCTGGATG
ENST00000468895.5:n.124-3697_124-3696insCTGGATG
ENST00000469431.5:n.374+846_374+847insCTGGATG
ENST00000470512.5:n.328+846_328+847insCTGGATG
ENST00000472183.5:n.509+846_509+847insCTGGATG
ENST00000476935.5:n.247-3700_247-3699insCTGGATG
ENST00000477931.5:n.372+846_372+847insCTGGATG
ENST00000478585.5:n.268-3697_268-3696insCTGGATG
ENST00000480232.5:n.273+846_273+847insCTGGATG
ENST00000480975.5:n.257-3700_257-3699insCTGGATG
ENST00000481039.5:n.174+846_174+847insCTGGATG
ENST00000481768.5:n.1442-118_1442-117insCTGGATG
ENST00000482112.5:n.332-3700_332-3699insCTGGATG
ENST00000483387.1:n.567+846_567+847insCTGGATG
ENST00000484504.5:n.201-118_201-117insCTGGATG
ENST00000485673.5:n.500-3697_500-3696insCTGGATG
ENST00000487862.5:n.489-3697_489-3696insCTGGATG
ENST00000488546.5:n.114-3697_114-3696insCTGGATG
ENST00000488652.5:n.347+846_347+847insCTGGATG
ENST00000490374.5:n.372+846_372+847insCTGGATG
ENST00000491348.5:n.607-118_607-117insCTGGATG
ENST00000492907.5:n.206-3697_206-3696insCTGGATG
ENST00000493744.5:n.351-118_351-117insCTGGATG
ENST00000496934.5:n.1546+846_1546+847insCTGGATG
ENST00000603546.1:c.80+846_80+847insCTGGATG ENSP00000474802.1:n.80+846_80+847insCTGGATG
ENST00000604005.5:c.80+846_80+847insCTGGATG ENSP00000474219.1:n.80+846_80+847insCTGGATG
NM_000516.4:c.257+846_257+847insCTGGATG NP_000507.1:n.257+846_257+847insCTGGATG
NM_000516.5:c.257+846_257+847insCTGGATG NP_000507.1:n.257+846_257+847insCTGGATG
NM_001077488.2:c.257+846_257+847insCTGGATG NP_001070956.1:n.257+846_257+847insCTGGATG
NM_001077488.3:c.257+846_257+847insCTGGATG NP_001070956.1:n.257+846_257+847insCTGGATG
NM_001077489.2:c.213-3700_213-3699insCTGGATG NP_001070957.1:n.213-3700_213-3699insCTGGATG
NM_001077489.3:c.213-3700_213-3699insCTGGATG NP_001070957.1:n.213-3700_213-3699insCTGGATG
NM_001077490.1:c.*118+846_*118+847insCTGGATG NP_001070958.1:n.*118+846_*118+847insCTGGATG
NM_001077490.2:c.*118+846_*118+847insCTGGATG NP_001070958.1:n.*118+846_*118+847insCTGGATG
NM_001309840.1:c.80+846_80+847insCTGGATG NP_001296769.1:n.80+846_80+847insCTGGATG
NM_001309842.1:c.258-118_258-117insCTGGATG NP_001296771.1:n.258-118_258-117insCTGGATG
NM_001309861.1:c.80+846_80+847insCTGGATG NP_001296790.1:n.80+846_80+847insCTGGATG
NM_001309883.1:c.*277-118_*277-117insCTGGATG NP_001296812.1:n.*277-118_*277-117insCTGGATG
NM_016592.2:c.*160+846_*160+847insCTGGATG NP_057676.1:n.*160+846_*160+847insCTGGATG
NM_016592.3:c.*160+846_*160+847insCTGGATG NP_057676.1:n.*160+846_*160+847insCTGGATG
NM_080425.2:c.2186+846_2186+847insCTGGATG NP_536350.2:n.2186+846_2186+847insCTGGATG
NM_080425.3:c.2186+846_2186+847insCTGGATG NP_536350.2:n.2186+846_2186+847insCTGGATG
NM_080426.2:c.213-3697_213-3696insCTGGATG NP_536351.1:n.213-3697_213-3696insCTGGATG
NM_080426.3:c.213-3697_213-3696insCTGGATG NP_536351.1:n.213-3697_213-3696insCTGGATG
NR_003259.1:c.-4294966949+846_-4294966949+847insCTGGATG
NR_132272.1:n.165-118_165-117insCTGGATG
NR_132273.1:n.525-118_525-117insCTGGATG
XM_017027812.2:c.2186+846_2186+847insCTGGATG XP_016883301.1:n.2186+846_2186+847insCTGGATG
XM_017027813.2:c.2142-3697_2142-3696insCTGGATG XP_016883302.1:n.2142-3697_2142-3696insCTGGATG
XM_017027814.2:c.2142-3700_2142-3699insCTGGATG XP_016883303.1:n.2142-3700_2142-3699insCTGGATG
XM_017027815.1:c.117-3700_117-3699insCTGGATG XP_016883304.1:n.117-3700_117-3699insCTGGATG
XM_017027816.1:c.-47-118_-47-117insCTGGATG XP_016883305.1:n.-47-118_-47-117insCTGGATG
XM_017027817.1:c.36-3700_36-3699insCTGGATG XP_016883306.1:n.36-3700_36-3699insCTGGATG
XM_017027818.2:c.36-3700_36-3699insCTGGATG XP_016883307.1:n.36-3700_36-3699insCTGGATG
XM_017027819.1:c.36-3700_36-3699insCTGGATG XP_016883308.1:n.36-3700_36-3699insCTGGATG
XM_017027820.1:c.-47-118_-47-117insCTGGATG XP_016883309.1:n.-47-118_-47-117insCTGGATG
XM_017027821.1:c.*160+846_*160+847insCTGGATG XP_016883310.1:n.*160+846_*160+847insCTGGATG
XM_017027822.1:c.*116-3700_*116-3699insCTGGATG XP_016883311.1:n.*116-3700_*116-3699insCTGGATG
XM_024451872.1:c.161+846_161+847insCTGGATG XP_024307640.1:n.161+846_161+847insCTGGATG
XM_024451873.1:c.80+846_80+847insCTGGATG XP_024307641.1:n.80+846_80+847insCTGGATG
XM_024451874.1:c.80+846_80+847insCTGGATG XP_024307642.1:n.80+846_80+847insCTGGATG
XM_024451875.1:c.80+846_80+847insCTGGATG XP_024307643.1:n.80+846_80+847insCTGGATG
XR_002958471.1:n.883-118_883-117insCTGGATG
NM_000516.6:c.257+846_257+847insCTGGATG NP_000507.1:n.257+846_257+847insCTGGATG
NM_001077488.4:c.257+846_257+847insCTGGATG NP_001070956.1:n.257+846_257+847insCTGGATG
NM_001077489.4:c.213-3700_213-3699insCTGGATG NP_001070957.1:n.213-3700_213-3699insCTGGATG
NM_001309840.2:c.80+846_80+847insCTGGATG NP_001296769.1:n.80+846_80+847insCTGGATG
NM_001309842.2:c.258-118_258-117insCTGGATG NP_001296771.1:n.258-118_258-117insCTGGATG
NM_001309861.2:c.80+846_80+847insCTGGATG NP_001296790.1:n.80+846_80+847insCTGGATG
NM_016592.4:c.*160+846_*160+847insCTGGATG NP_057676.1:n.*160+846_*160+847insCTGGATG
NM_080426.4:c.213-3697_213-3696insCTGGATG NP_536351.1:n.213-3697_213-3696insCTGGATG
NR_132272.2:n.166-118_166-117insCTGGATG
NM_000516.7:c.257+846_257+847insCTGGATG MANE Select NP_000507.1:n.257+846_257+847insCTGGATG
NM_001077488.5:c.257+846_257+847insCTGGATG NP_001070956.1:n.257+846_257+847insCTGGATG
NM_001077490.3:c.*118+846_*118+847insCTGGATG NP_001070958.1:n.*118+846_*118+847insCTGGATG
NM_016592.5:c.*160+846_*160+847insCTGGATG MANE Plus Clinical NP_057676.1:n.*160+846_*160+847insCTGGATG
NM_080425.4:c.2186+846_2186+847insCTGGATG MANE Plus Clinical NP_536350.2:n.2186+846_2186+847insCTGGATG
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