Canonical Allele Identifier: CA2653524727
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58899931-TTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58899932_58899933del , CM000682.2:g.58899932_58899933del GRCh38
NC_000020.10:g.57474987_57474988del , CM000682.1:g.57474987_57474988del GRCh37
NC_000020.9:g.56908382_56908383del NCBI36
NG_016194.1:g.65193_65194del
NG_016194.2:g.65193_65194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2142-3599_2142-3598del ENSP00000265621.6:n.2142-3599_2142-3598del
ENST00000419558.7:c.*116-3599_*116-3598del ENSP00000416234.2:n.*116-3599_*116-3598del
ENST00000423897.7:c.2187-17_2187-16del ENSP00000412356.2:n.2187-17_2187-16del
ENST00000453292.7:c.854-3596_854-3595del ENSP00000392000.2:n.854-3596_854-3595del
ENST00000462499.6:c.36-3596_36-3595del ENSP00000499758.2:n.36-3596_36-3595del
ENST00000464624.7:c.*99+947_*99+948del ENSP00000499607.2:n.*99+947_*99+948del
ENST00000464788.6:c.80+947_80+948del ENSP00000499239.2:n.80+947_80+948del
ENST00000467227.6:c.36-3596_36-3595del ENSP00000499681.2:n.36-3596_36-3595del
ENST00000467321.6:c.80+947_80+948del ENSP00000499523.2:n.80+947_80+948del
ENST00000468895.6:c.257+947_257+948del ENSP00000499551.2:n.257+947_257+948del
ENST00000469431.6:c.80+947_80+948del ENSP00000499654.2:n.80+947_80+948del
ENST00000470512.6:c.80+947_80+948del ENSP00000499552.2:n.80+947_80+948del
ENST00000472183.6:c.80+947_80+948del ENSP00000499673.2:n.80+947_80+948del
ENST00000476935.6:c.36-3599_36-3598del ENSP00000499409.2:n.36-3599_36-3598del
ENST00000478585.6:c.36-3596_36-3595del ENSP00000499762.2:n.36-3596_36-3595del
ENST00000480232.6:c.80+947_80+948del ENSP00000499545.2:n.80+947_80+948del
ENST00000481039.6:c.36-3596_36-3595del ENSP00000499767.2:n.36-3596_36-3595del
ENST00000482112.6:c.36-3599_36-3598del ENSP00000499794.2:n.36-3599_36-3598del
ENST00000483387.2:n.756-17_756-16del
ENST00000485673.6:c.36-3596_36-3595del ENSP00000499334.2:n.36-3596_36-3595del
ENST00000488546.6:c.36-3596_36-3595del ENSP00000499332.2:n.36-3596_36-3595del
ENST00000488652.6:c.80+947_80+948del ENSP00000499435.2:n.80+947_80+948del
ENST00000492907.6:c.36-3596_36-3595del ENSP00000499443.2:n.36-3596_36-3595del
ENST00000603546.2:c.80+947_80+948del ENSP00000474802.2:n.80+947_80+948del
ENST00000604005.6:c.80+947_80+948del ENSP00000474219.2:n.80+947_80+948del
ENST00000663479.2:c.80+947_80+948del ENSP00000499353.2:n.80+947_80+948del
ENST00000667293.2:c.80+947_80+948del ENSP00000499293.2:n.80+947_80+948del
ENST00000676826.2:c.2186+947_2186+948del ENSP00000504675.2:n.2186+947_2186+948del
ENST00000682134.1:n.2183+947_2183+948del
ENST00000682803.1:c.-71+770_-71+771del ENSP00000507069.1:n.-71+770_-71+771del
ENST00000682829.1:n.2586-3599_2586-3598del
ENST00000683015.1:c.1027+947_1027+948del ENSP00000506815.1:n.1027+947_1027+948del
ENST00000684284.1:n.2635+947_2635+948del
ENST00000306090.12:c.161+947_161+948del ENSP00000304472.12:n.161+947_161+948del
ENST00000338783.7:c.213-17_213-16del ENSP00000345971.7:n.213-17_213-16del
ENST00000349036.8:c.2142-3599_2142-3598del ENSP00000265621.5:n.2142-3599_2142-3598del
ENST00000354359.12:c.257+947_257+948del ENSP00000346328.7:n.257+947_257+948del
ENST00000371085.8:c.257+947_257+948del MANE Select ENSP00000360126.3:n.257+947_257+948del
ENST00000371100.9:c.2186+947_2186+948del MANE Plus Clinical ENSP00000360141.3:n.2186+947_2186+948del
ENST00000419558.6:c.*116-3599_*116-3598del ENSP00000416234.2:n.*116-3599_*116-3598del
ENST00000423897.6:c.2187-17_2187-16del ENSP00000412356.2:n.2187-17_2187-16del
ENST00000453292.6:c.*116-3596_*116-3595del ENSP00000392000.2:n.*116-3596_*116-3595del
ENST00000461152.6:c.983-3596_983-3595del ENSP00000499274.1:n.983-3596_983-3595del
ENST00000481768.6:c.*86-17_*86-16del ENSP00000499644.2:n.*86-17_*86-16del
ENST00000490374.6:n.341-17_341-16del
ENST00000657090.1:c.80+947_80+948del ENSP00000499380.1:n.80+947_80+948del
ENST00000663479.1:c.80+947_80+948del ENSP00000499353.1:n.80+947_80+948del
ENST00000667293.1:c.128+947_128+948del ENSP00000499293.1:n.128+947_128+948del
ENST00000676826.1:c.2186+947_2186+948del ENSP00000504675.1:n.2186+947_2186+948del
ENST00000265620.11:c.213-3599_213-3598del ENSP00000265620.7:n.213-3599_213-3598del
ENST00000306090.11:c.93+8113_93+8114del ENSP00000304472.11:n.93+8113_93+8114del
ENST00000313949.11:c.*160+947_*160+948del ENSP00000323571.7:n.*160+947_*160+948del
ENST00000338783.6:c.180-17_180-16del ENSP00000345971.6:n.180-17_180-16del
ENST00000349036.7:c.305+947_305+948del ENSP00000265621.4:n.305+947_305+948del
ENST00000354359.11:c.257+947_257+948del ENSP00000346328.7:n.257+947_257+948del
ENST00000371075.7:c.*160+947_*160+948del MANE Plus Clinical ENSP00000360115.3:n.*160+947_*160+948del
ENST00000371081.5:c.258-17_258-16del ENSP00000360122.1:n.258-17_258-16del
ENST00000371085.7:c.257+947_257+948del ENSP00000360126.3:n.257+947_257+948del
ENST00000371095.7:c.213-3596_213-3595del ENSP00000360136.3:n.213-3596_213-3595del
ENST00000371098.6:c.*161-17_*161-16del ENSP00000360139.2:n.*161-17_*161-16del
ENST00000371100.8:c.2186+947_2186+948del ENSP00000360141.3:n.2186+947_2186+948del
ENST00000371102.8:c.2142-3596_2142-3595del ENSP00000360143.4:n.2142-3596_2142-3595del
ENST00000419558.5:c.457-3599_457-3598del
ENST00000423897.5:c.275-17_275-16del
ENST00000450130.5:c.301-3599_301-3598del
ENST00000453292.5:c.617-3596_617-3595del ENSP00000392000.1:n.617-3596_617-3595del
ENST00000461152.5:n.221-3596_221-3595del
ENST00000462499.5:n.332-3596_332-3595del
ENST00000464624.6:n.2473+947_2473+948del
ENST00000464788.5:n.185+947_185+948del
ENST00000464960.5:n.525-17_525-16del
ENST00000467227.5:n.196-3596_196-3595del
ENST00000467321.5:n.272+947_272+948del
ENST00000468895.5:n.124-3596_124-3595del
ENST00000469431.5:n.374+947_374+948del
ENST00000470512.5:n.328+947_328+948del
ENST00000472183.5:n.509+947_509+948del
ENST00000476935.5:n.247-3599_247-3598del
ENST00000477931.5:n.372+947_372+948del
ENST00000478585.5:n.268-3596_268-3595del
ENST00000480232.5:n.273+947_273+948del
ENST00000480975.5:n.257-3599_257-3598del
ENST00000481039.5:n.174+947_174+948del
ENST00000481768.5:n.1442-17_1442-16del
ENST00000482112.5:n.332-3599_332-3598del
ENST00000483387.1:n.567+947_567+948del
ENST00000484504.5:n.201-17_201-16del
ENST00000485673.5:n.500-3596_500-3595del
ENST00000487862.5:n.489-3596_489-3595del
ENST00000488546.5:n.114-3596_114-3595del
ENST00000488652.5:n.347+947_347+948del
ENST00000490374.5:n.372+947_372+948del
ENST00000491348.5:n.607-17_607-16del
ENST00000492907.5:n.206-3596_206-3595del
ENST00000493744.5:n.351-17_351-16del
ENST00000496934.5:n.1546+947_1546+948del
ENST00000603546.1:c.80+947_80+948del ENSP00000474802.1:n.80+947_80+948del
ENST00000604005.5:c.80+947_80+948del ENSP00000474219.1:n.80+947_80+948del
NM_000516.4:c.257+947_257+948del NP_000507.1:n.257+947_257+948del
NM_000516.5:c.257+947_257+948del NP_000507.1:n.257+947_257+948del
NM_001077488.2:c.257+947_257+948del NP_001070956.1:n.257+947_257+948del
NM_001077488.3:c.257+947_257+948del NP_001070956.1:n.257+947_257+948del
NM_001077489.2:c.213-3599_213-3598del NP_001070957.1:n.213-3599_213-3598del
NM_001077489.3:c.213-3599_213-3598del NP_001070957.1:n.213-3599_213-3598del
NM_001077490.1:c.*118+947_*118+948del NP_001070958.1:n.*118+947_*118+948del
NM_001077490.2:c.*118+947_*118+948del NP_001070958.1:n.*118+947_*118+948del
NM_001309840.1:c.80+947_80+948del NP_001296769.1:n.80+947_80+948del
NM_001309842.1:c.258-17_258-16del NP_001296771.1:n.258-17_258-16del
NM_001309861.1:c.80+947_80+948del NP_001296790.1:n.80+947_80+948del
NM_001309883.1:c.*277-17_*277-16del NP_001296812.1:n.*277-17_*277-16del
NM_016592.2:c.*160+947_*160+948del NP_057676.1:n.*160+947_*160+948del
NM_016592.3:c.*160+947_*160+948del NP_057676.1:n.*160+947_*160+948del
NM_080425.2:c.2186+947_2186+948del NP_536350.2:n.2186+947_2186+948del
NM_080425.3:c.2186+947_2186+948del NP_536350.2:n.2186+947_2186+948del
NM_080426.2:c.213-3596_213-3595del NP_536351.1:n.213-3596_213-3595del
NM_080426.3:c.213-3596_213-3595del NP_536351.1:n.213-3596_213-3595del
NR_003259.1:c.-4294966949+947_-4294966949+948del
NR_132272.1:n.165-17_165-16del
NR_132273.1:n.525-17_525-16del
XM_017027812.2:c.2186+947_2186+948del XP_016883301.1:n.2186+947_2186+948del
XM_017027813.2:c.2142-3596_2142-3595del XP_016883302.1:n.2142-3596_2142-3595del
XM_017027814.2:c.2142-3599_2142-3598del XP_016883303.1:n.2142-3599_2142-3598del
XM_017027815.1:c.117-3599_117-3598del XP_016883304.1:n.117-3599_117-3598del
XM_017027816.1:c.-47-17_-47-16del XP_016883305.1:n.-47-17_-47-16del
XM_017027817.1:c.36-3599_36-3598del XP_016883306.1:n.36-3599_36-3598del
XM_017027818.2:c.36-3599_36-3598del XP_016883307.1:n.36-3599_36-3598del
XM_017027819.1:c.36-3599_36-3598del XP_016883308.1:n.36-3599_36-3598del
XM_017027820.1:c.-47-17_-47-16del XP_016883309.1:n.-47-17_-47-16del
XM_017027821.1:c.*160+947_*160+948del XP_016883310.1:n.*160+947_*160+948del
XM_017027822.1:c.*116-3599_*116-3598del XP_016883311.1:n.*116-3599_*116-3598del
XM_024451872.1:c.161+947_161+948del XP_024307640.1:n.161+947_161+948del
XM_024451873.1:c.80+947_80+948del XP_024307641.1:n.80+947_80+948del
XM_024451874.1:c.80+947_80+948del XP_024307642.1:n.80+947_80+948del
XM_024451875.1:c.80+947_80+948del XP_024307643.1:n.80+947_80+948del
XR_002958471.1:n.883-17_883-16del
NM_000516.6:c.257+947_257+948del NP_000507.1:n.257+947_257+948del
NM_001077488.4:c.257+947_257+948del NP_001070956.1:n.257+947_257+948del
NM_001077489.4:c.213-3599_213-3598del NP_001070957.1:n.213-3599_213-3598del
NM_001309840.2:c.80+947_80+948del NP_001296769.1:n.80+947_80+948del
NM_001309842.2:c.258-17_258-16del NP_001296771.1:n.258-17_258-16del
NM_001309861.2:c.80+947_80+948del NP_001296790.1:n.80+947_80+948del
NM_016592.4:c.*160+947_*160+948del NP_057676.1:n.*160+947_*160+948del
NM_080426.4:c.213-3596_213-3595del NP_536351.1:n.213-3596_213-3595del
NR_132272.2:n.166-17_166-16del
NM_000516.7:c.257+947_257+948del MANE Select NP_000507.1:n.257+947_257+948del
NM_001077488.5:c.257+947_257+948del NP_001070956.1:n.257+947_257+948del
NM_001077490.3:c.*118+947_*118+948del NP_001070958.1:n.*118+947_*118+948del
NM_016592.5:c.*160+947_*160+948del MANE Plus Clinical NP_057676.1:n.*160+947_*160+948del
NM_080425.4:c.2186+947_2186+948del MANE Plus Clinical NP_536350.2:n.2186+947_2186+948del
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