Canonical Allele Identifier: CA746050576
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs1197102231
gnomAD v3: 20-58900069-TGAGGGGG-T
gnomAD v4: 20-58900069-TGAGGGGG-T
MyVariant Identifiers: chr20:g.57475125_57475131del (hg19) chr20:g.58900070_58900076del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58900079_58900085del , CM000682.2:g.58900079_58900085del GRCh38
NC_000020.10:g.57475134_57475140del , CM000682.1:g.57475134_57475140del GRCh37
NC_000020.9:g.56908529_56908535del NCBI36
NG_016194.1:g.65340_65346del
NG_016194.2:g.65340_65346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2142-3452_2142-3446del ENSP00000265621.6:n.2142-3452_2142-3446del
ENST00000419558.7:c.*116-3452_*116-3446del ENSP00000416234.2:n.*116-3452_*116-3446del
ENST00000423897.7:c.2317_2323del ENSP00000412356.2:n.2317_2323del
ENST00000453292.7:c.854-3449_854-3443del ENSP00000392000.2:n.854-3449_854-3443del
ENST00000462499.6:c.36-3449_36-3443del ENSP00000499758.2:n.36-3449_36-3443del
ENST00000464624.7:c.*99+1094_*99+1100del ENSP00000499607.2:n.*99+1094_*99+1100del
ENST00000464788.6:c.80+1094_80+1100del ENSP00000499239.2:n.80+1094_80+1100del
ENST00000467227.6:c.36-3449_36-3443del ENSP00000499681.2:n.36-3449_36-3443del
ENST00000467321.6:c.80+1094_80+1100del ENSP00000499523.2:n.80+1094_80+1100del
ENST00000468895.6:c.257+1094_257+1100del ENSP00000499551.2:n.257+1094_257+1100del
ENST00000469431.6:c.80+1094_80+1100del ENSP00000499654.2:n.80+1094_80+1100del
ENST00000470512.6:c.80+1094_80+1100del ENSP00000499552.2:n.80+1094_80+1100del
ENST00000472183.6:c.80+1094_80+1100del ENSP00000499673.2:n.80+1094_80+1100del
ENST00000476935.6:c.36-3452_36-3446del ENSP00000499409.2:n.36-3452_36-3446del
ENST00000478585.6:c.36-3449_36-3443del ENSP00000499762.2:n.36-3449_36-3443del
ENST00000480232.6:c.80+1094_80+1100del ENSP00000499545.2:n.80+1094_80+1100del
ENST00000481039.6:c.36-3449_36-3443del ENSP00000499767.2:n.36-3449_36-3443del
ENST00000482112.6:c.36-3452_36-3446del ENSP00000499794.2:n.36-3452_36-3446del
ENST00000483387.2:n.886_892del
ENST00000485673.6:c.36-3449_36-3443del ENSP00000499334.2:n.36-3449_36-3443del
ENST00000488546.6:c.36-3449_36-3443del ENSP00000499332.2:n.36-3449_36-3443del
ENST00000488652.6:c.80+1094_80+1100del ENSP00000499435.2:n.80+1094_80+1100del
ENST00000492907.6:c.36-3449_36-3443del ENSP00000499443.2:n.36-3449_36-3443del
ENST00000603546.2:c.80+1094_80+1100del ENSP00000474802.2:n.80+1094_80+1100del
ENST00000604005.6:c.80+1094_80+1100del ENSP00000474219.2:n.80+1094_80+1100del
ENST00000663479.2:c.80+1094_80+1100del ENSP00000499353.2:n.80+1094_80+1100del
ENST00000667293.2:c.80+1094_80+1100del ENSP00000499293.2:n.80+1094_80+1100del
ENST00000676826.2:c.2186+1094_2186+1100del ENSP00000504675.2:n.2186+1094_2186+1100del
ENST00000682134.1:n.2183+1094_2183+1100del
ENST00000682803.1:c.-71+917_-71+923del ENSP00000507069.1:n.-71+917_-71+923del
ENST00000682829.1:n.2586-3452_2586-3446del
ENST00000683015.1:c.1027+1094_1027+1100del ENSP00000506815.1:n.1027+1094_1027+1100del
ENST00000684284.1:n.2635+1094_2635+1100del
ENST00000306090.12:c.161+1094_161+1100del ENSP00000304472.12:n.161+1094_161+1100del
ENST00000338783.7:c.343_349del ENSP00000345971.7:n.343_349del
ENST00000349036.8:c.2142-3452_2142-3446del ENSP00000265621.5:n.2142-3452_2142-3446del
ENST00000354359.12:c.257+1094_257+1100del ENSP00000346328.7:n.257+1094_257+1100del
ENST00000371085.8:c.257+1094_257+1100del MANE Select ENSP00000360126.3:n.257+1094_257+1100del
ENST00000371100.9:c.2186+1094_2186+1100del MANE Plus Clinical ENSP00000360141.3:n.2186+1094_2186+1100del
ENST00000419558.6:c.*116-3452_*116-3446del ENSP00000416234.2:n.*116-3452_*116-3446del
ENST00000423897.6:c.*124_*130del ENSP00000412356.2:n.*124_*130del
ENST00000453292.6:c.*116-3449_*116-3443del ENSP00000392000.2:n.*116-3449_*116-3443del
ENST00000461152.6:c.983-3449_983-3443del ENSP00000499274.1:n.983-3449_983-3443del
ENST00000481768.6:c.*216_*222del ENSP00000499644.2:n.*216_*222del
ENST00000490374.6:n.422+49_422+55del
ENST00000657090.1:c.80+1094_80+1100del ENSP00000499380.1:n.80+1094_80+1100del
ENST00000663479.1:c.80+1094_80+1100del ENSP00000499353.1:n.80+1094_80+1100del
ENST00000667293.1:c.128+1094_128+1100del ENSP00000499293.1:n.128+1094_128+1100del
ENST00000676826.1:c.2186+1094_2186+1100del ENSP00000504675.1:n.2186+1094_2186+1100del
ENST00000265620.11:c.213-3452_213-3446del ENSP00000265620.7:n.213-3452_213-3446del
ENST00000306090.11:c.93+8260_93+8266del ENSP00000304472.11:n.93+8260_93+8266del
ENST00000313949.11:c.*160+1094_*160+1100del ENSP00000323571.7:n.*160+1094_*160+1100del
ENST00000338783.6:c.310_316del ENSP00000345971.6:n.310_316del
ENST00000349036.7:c.305+1094_305+1100del ENSP00000265621.4:n.305+1094_305+1100del
ENST00000354359.11:c.257+1094_257+1100del ENSP00000346328.7:n.257+1094_257+1100del
ENST00000371075.7:c.*160+1094_*160+1100del MANE Plus Clinical ENSP00000360115.3:n.*160+1094_*160+1100del
ENST00000371081.5:c.*124_*130del ENSP00000360122.1:n.*124_*130del
ENST00000371085.7:c.257+1094_257+1100del ENSP00000360126.3:n.257+1094_257+1100del
ENST00000371095.7:c.213-3449_213-3443del ENSP00000360136.3:n.213-3449_213-3443del
ENST00000371098.6:c.*291_*297del ENSP00000360139.2:n.*291_*297del
ENST00000371100.8:c.2186+1094_2186+1100del ENSP00000360141.3:n.2186+1094_2186+1100del
ENST00000371102.8:c.2142-3449_2142-3443del ENSP00000360143.4:n.2142-3449_2142-3443del
ENST00000419558.5:c.457-3452_457-3446del
ENST00000423897.5:c.405_411del
ENST00000450130.5:c.301-3452_301-3446del
ENST00000453292.5:c.617-3449_617-3443del ENSP00000392000.1:n.617-3449_617-3443del
ENST00000461152.5:n.221-3449_221-3443del
ENST00000462499.5:n.332-3449_332-3443del
ENST00000464624.6:n.2473+1094_2473+1100del
ENST00000464788.5:n.185+1094_185+1100del
ENST00000464960.5:n.655_661del
ENST00000467227.5:n.196-3449_196-3443del
ENST00000467321.5:n.272+1094_272+1100del
ENST00000468895.5:n.124-3449_124-3443del
ENST00000469431.5:n.374+1094_374+1100del
ENST00000470512.5:n.328+1094_328+1100del
ENST00000472183.5:n.509+1094_509+1100del
ENST00000476935.5:n.247-3452_247-3446del
ENST00000477931.5:n.372+1094_372+1100del
ENST00000478585.5:n.268-3449_268-3443del
ENST00000480232.5:n.273+1094_273+1100del
ENST00000480975.5:n.257-3452_257-3446del
ENST00000481039.5:n.174+1094_174+1100del
ENST00000481768.5:n.1572_1578del
ENST00000482112.5:n.332-3452_332-3446del
ENST00000483387.1:n.567+1094_567+1100del
ENST00000484504.5:n.331_337del
ENST00000485673.5:n.500-3449_500-3443del
ENST00000487862.5:n.489-3449_489-3443del
ENST00000488546.5:n.114-3449_114-3443del
ENST00000488652.5:n.347+1094_347+1100del
ENST00000490374.5:n.372+1094_372+1100del
ENST00000491348.5:n.737_743del
ENST00000492907.5:n.206-3449_206-3443del
ENST00000493744.5:n.481_487del
ENST00000496934.5:n.1546+1094_1546+1100del
ENST00000603546.1:c.80+1094_80+1100del ENSP00000474802.1:n.80+1094_80+1100del
ENST00000604005.5:c.80+1094_80+1100del ENSP00000474219.1:n.80+1094_80+1100del
NM_000516.4:c.257+1094_257+1100del NP_000507.1:n.257+1094_257+1100del
NM_000516.5:c.257+1094_257+1100del NP_000507.1:n.257+1094_257+1100del
NM_001077488.2:c.257+1094_257+1100del NP_001070956.1:n.257+1094_257+1100del
NM_001077488.3:c.257+1094_257+1100del NP_001070956.1:n.257+1094_257+1100del
NM_001077489.2:c.213-3452_213-3446del NP_001070957.1:n.213-3452_213-3446del
NM_001077489.3:c.213-3452_213-3446del NP_001070957.1:n.213-3452_213-3446del
NM_001077490.1:c.*118+1094_*118+1100del NP_001070958.1:n.*118+1094_*118+1100del
NM_001077490.2:c.*118+1094_*118+1100del NP_001070958.1:n.*118+1094_*118+1100del
NM_001309840.1:c.80+1094_80+1100del NP_001296769.1:n.80+1094_80+1100del
NM_001309842.1:c.*124_*130del NP_001296771.1:n.*124_*130del
NM_001309861.1:c.80+1094_80+1100del NP_001296790.1:n.80+1094_80+1100del
NM_001309883.1:c.*407_*413del NP_001296812.1:n.*407_*413del
NM_016592.2:c.*160+1094_*160+1100del NP_057676.1:n.*160+1094_*160+1100del
NM_016592.3:c.*160+1094_*160+1100del NP_057676.1:n.*160+1094_*160+1100del
NM_080425.2:c.2186+1094_2186+1100del NP_536350.2:n.2186+1094_2186+1100del
NM_080425.3:c.2186+1094_2186+1100del NP_536350.2:n.2186+1094_2186+1100del
NM_080426.2:c.213-3449_213-3443del NP_536351.1:n.213-3449_213-3443del
NM_080426.3:c.213-3449_213-3443del NP_536351.1:n.213-3449_213-3443del
NR_003259.1:c.-4294966949+1094_-4294966949+1100del
NR_132272.1:n.295_301del
NR_132273.1:n.655_661del
XM_017027812.2:c.2186+1094_2186+1100del XP_016883301.1:n.2186+1094_2186+1100del
XM_017027813.2:c.2142-3449_2142-3443del XP_016883302.1:n.2142-3449_2142-3443del
XM_017027814.2:c.2142-3452_2142-3446del XP_016883303.1:n.2142-3452_2142-3446del
XM_017027815.1:c.117-3452_117-3446del XP_016883304.1:n.117-3452_117-3446del
XM_017027816.1:c.35+49_35+55del XP_016883305.1:n.35+49_35+55del
XM_017027817.1:c.36-3452_36-3446del XP_016883306.1:n.36-3452_36-3446del
XM_017027818.2:c.36-3452_36-3446del XP_016883307.1:n.36-3452_36-3446del
XM_017027819.1:c.36-3452_36-3446del XP_016883308.1:n.36-3452_36-3446del
XM_017027820.1:c.35+49_35+55del XP_016883309.1:n.35+49_35+55del
XM_017027821.1:c.*160+1094_*160+1100del XP_016883310.1:n.*160+1094_*160+1100del
XM_017027822.1:c.*116-3452_*116-3446del XP_016883311.1:n.*116-3452_*116-3446del
XM_024451872.1:c.161+1094_161+1100del XP_024307640.1:n.161+1094_161+1100del
XM_024451873.1:c.80+1094_80+1100del XP_024307641.1:n.80+1094_80+1100del
XM_024451874.1:c.80+1094_80+1100del XP_024307642.1:n.80+1094_80+1100del
XM_024451875.1:c.80+1094_80+1100del XP_024307643.1:n.80+1094_80+1100del
XR_002958471.1:n.964+49_964+55del
NM_000516.6:c.257+1094_257+1100del NP_000507.1:n.257+1094_257+1100del
NM_001077488.4:c.257+1094_257+1100del NP_001070956.1:n.257+1094_257+1100del
NM_001077489.4:c.213-3452_213-3446del NP_001070957.1:n.213-3452_213-3446del
NM_001309840.2:c.80+1094_80+1100del NP_001296769.1:n.80+1094_80+1100del
NM_001309842.2:c.*124_*130del NP_001296771.1:n.*124_*130del
NM_001309861.2:c.80+1094_80+1100del NP_001296790.1:n.80+1094_80+1100del
NM_016592.4:c.*160+1094_*160+1100del NP_057676.1:n.*160+1094_*160+1100del
NM_080426.4:c.213-3449_213-3443del NP_536351.1:n.213-3449_213-3443del
NR_132272.2:n.296_302del
NM_000516.7:c.257+1094_257+1100del MANE Select NP_000507.1:n.257+1094_257+1100del
NM_001077488.5:c.257+1094_257+1100del NP_001070956.1:n.257+1094_257+1100del
NM_001077490.3:c.*118+1094_*118+1100del NP_001070958.1:n.*118+1094_*118+1100del
NM_016592.5:c.*160+1094_*160+1100del MANE Plus Clinical NP_057676.1:n.*160+1094_*160+1100del
NM_080425.4:c.2186+1094_2186+1100del MANE Plus Clinical NP_536350.2:n.2186+1094_2186+1100del
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