Canonical Allele Identifier: CA9926853
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs746747045
ExAC: 20:57466748 AGCCCGGCCGCGCCCCGCCGCCGCCGCC / A
gnomAD v2: 20-57466748-AGCCCGGCCGCGCCCCGCCGCCGCCGCC-A
gnomAD v3: 20-58891693-AGCCCGGCCGCGCCCCGCCGCCGCCGCC-A
gnomAD v4: 20-58891693-AGCCCGGCCGCGCCCCGCCGCCGCCGCC-A
MyVariant Identifiers: chr20:g.57466749_57466775del (hg19) chr20:g.58891694_58891720del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891697_58891723del , CM000682.2:g.58891697_58891723del GRCh38
NC_000020.10:g.57466752_57466778del , CM000682.1:g.57466752_57466778del GRCh37
NC_000020.9:g.56900147_56900173del NCBI36
NG_016194.1:g.56958_56984del
NG_016194.2:g.56958_56984del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3915_2069-3889del ENSP00000265621.6:n.2069-3915_2069-3889del
ENST00000419558.7:c.*43-3915_*43-3889del ENSP00000416234.2:n.*43-3915_*43-3889del
ENST00000423897.7:c.2069-3915_2069-3889del ENSP00000412356.2:n.2069-3915_2069-3889del
ENST00000453292.7:c.781-3915_781-3889del ENSP00000392000.2:n.781-3915_781-3889del
ENST00000462499.6:c.-38-3915_-38-3889del ENSP00000499758.2:n.-38-3915_-38-3889del
ENST00000464624.7:c.2160-3915_2160-3889del ENSP00000499607.2:n.2160-3915_2160-3889del
ENST00000464788.6:c.-39+2484_-39+2510del ENSP00000499239.2:n.-39+2484_-39+2510del
ENST00000467227.6:c.-38-3915_-38-3889del ENSP00000499681.2:n.-38-3915_-38-3889del
ENST00000467321.6:c.-39+2651_-39+2677del ENSP00000499523.2:n.-39+2651_-39+2677del
ENST00000468895.6:c.-30_-4del ENSP00000499551.2:n.-30_-4del
ENST00000469431.6:c.-39+2291_-39+2317del ENSP00000499654.2:n.-39+2291_-39+2317del
ENST00000470512.6:c.-39+2344_-39+2370del ENSP00000499552.2:n.-39+2344_-39+2370del
ENST00000472183.6:c.-38-3915_-38-3889del ENSP00000499673.2:n.-38-3915_-38-3889del
ENST00000478585.6:c.-39+2344_-39+2370del ENSP00000499762.2:n.-39+2344_-39+2370del
ENST00000480232.6:c.-39+2148_-39+2174del ENSP00000499545.2:n.-39+2148_-39+2174del
ENST00000481039.6:c.-39+2789_-39+2815del ENSP00000499767.2:n.-39+2789_-39+2815del
ENST00000482112.6:c.-38-3915_-38-3889del ENSP00000499794.2:n.-38-3915_-38-3889del
ENST00000485673.6:c.-39+2148_-39+2174del ENSP00000499334.2:n.-39+2148_-39+2174del
ENST00000488546.6:c.-39+2879_-39+2905del ENSP00000499332.2:n.-39+2879_-39+2905del
ENST00000604005.6:c.-39+2365_-39+2391del ENSP00000474219.2:n.-39+2365_-39+2391del
ENST00000663479.2:c.-38-3915_-38-3889del ENSP00000499353.2:n.-38-3915_-38-3889del
ENST00000667293.2:c.-39+2793_-39+2819del ENSP00000499293.2:n.-39+2793_-39+2819del
ENST00000676826.2:c.2069-3915_2069-3889del ENSP00000504675.2:n.2069-3915_2069-3889del
ENST00000683015.1:c.909+908_909+934del ENSP00000506815.1:n.909+908_909+934del
ENST00000306090.12:c.44-3915_44-3889del ENSP00000304472.12:n.44-3915_44-3889del
ENST00000349036.8:c.2069-3915_2069-3889del ENSP00000265621.5:n.2069-3915_2069-3889del
ENST00000354359.12:c.-30_-4del ENSP00000346328.7:n.-30_-4del
ENST00000371085.8:c.-30_-4del MANE Select ENSP00000360126.3:n.-30_-4del
ENST00000371100.9:c.2069-3915_2069-3889del MANE Plus Clinical ENSP00000360141.3:n.2069-3915_2069-3889del
ENST00000419558.6:c.*43-3915_*43-3889del ENSP00000416234.2:n.*43-3915_*43-3889del
ENST00000423897.6:c.2069-3915_2069-3889del ENSP00000412356.2:n.2069-3915_2069-3889del
ENST00000453292.6:c.*43-3915_*43-3889del ENSP00000392000.2:n.*43-3915_*43-3889del
ENST00000461152.6:c.909+908_909+934del ENSP00000499274.1:n.909+908_909+934del
ENST00000481768.6:c.2227-3915_2227-3889del ENSP00000499644.2:n.2227-3915_2227-3889del
ENST00000490374.6:n.223-3915_223-3889del
ENST00000657090.1:c.-38-3915_-38-3889del ENSP00000499380.1:n.-38-3915_-38-3889del
ENST00000663479.1:c.-38-3915_-38-3889del ENSP00000499353.1:n.-38-3915_-38-3889del
ENST00000667293.1:c.11-3915_11-3889del ENSP00000499293.1:n.11-3915_11-3889del
ENST00000676826.1:c.2069-3915_2069-3889del ENSP00000504675.1:n.2069-3915_2069-3889del
ENST00000265620.11:c.-30_-4del ENSP00000265620.7:n.-30_-4del
ENST00000313949.11:c.*43-3915_*43-3889del ENSP00000323571.7:n.*43-3915_*43-3889del
ENST00000349036.7:c.188-3915_188-3889del ENSP00000265621.4:n.188-3915_188-3889del
ENST00000354359.11:c.-30_-4del ENSP00000346328.7:n.-30_-4del
ENST00000371075.7:c.*43-3915_*43-3889del MANE Plus Clinical ENSP00000360115.3:n.*43-3915_*43-3889del
ENST00000371085.7:c.-30_-4del ENSP00000360126.3:n.-30_-4del
ENST00000371095.7:c.-30_-4del ENSP00000360136.3:n.-30_-4del
ENST00000371098.6:c.*43-3915_*43-3889del ENSP00000360139.2:n.*43-3915_*43-3889del
ENST00000371100.8:c.2069-3915_2069-3889del ENSP00000360141.3:n.2069-3915_2069-3889del
ENST00000371102.8:c.2069-3915_2069-3889del ENSP00000360143.4:n.2069-3915_2069-3889del
ENST00000419558.5:c.384-3915_384-3889del
ENST00000423897.5:c.157-3915_157-3889del
ENST00000450130.5:c.228-3915_228-3889del
ENST00000453292.5:c.544-3915_544-3889del ENSP00000392000.1:n.544-3915_544-3889del
ENST00000461152.5:n.147+908_147+934del
ENST00000462499.5:n.259-3915_259-3889del
ENST00000464624.6:n.2187_2213del
ENST00000464788.5:n.67+2484_67+2510del
ENST00000464960.5:n.406+2879_406+2905del
ENST00000467227.5:n.123-3915_123-3889del
ENST00000467321.5:n.154+2651_154+2677del
ENST00000468895.5:n.50+2789_50+2815del
ENST00000469431.5:n.256+2291_256+2317del
ENST00000470512.5:n.210+2344_210+2370del
ENST00000472183.5:n.392-3915_392-3889del
ENST00000477931.5:n.254+2344_254+2370del
ENST00000478585.5:n.194+2344_194+2370del
ENST00000480232.5:n.155+2148_155+2174del
ENST00000480975.5:n.183+2344_183+2370del
ENST00000481039.5:n.56+2793_56+2819del
ENST00000481768.5:n.1324-3915_1324-3889del
ENST00000482112.5:n.259-3915_259-3889del
ENST00000484504.5:n.127+2344_127+2370del
ENST00000485673.5:n.426+2148_426+2174del
ENST00000488546.5:n.40+2879_40+2905del
ENST00000490374.5:n.255-3915_255-3889del
ENST00000491348.5:n.534-3915_534-3889del
ENST00000493744.5:n.233-3915_233-3889del
ENST00000604005.5:c.-39+2365_-39+2391del ENSP00000474219.1:n.-39+2365_-39+2391del
NM_000516.4:c.-30_-4del NP_000507.1:n.-30_-4del
NM_000516.5:c.-30_-4del NP_000507.1:n.-30_-4del
NM_001077488.2:c.-30_-4del NP_001070956.1:n.-30_-4del
NM_001077488.3:c.-30_-4del NP_001070956.1:n.-30_-4del
NM_001077489.2:c.-30_-4del NP_001070957.1:n.-30_-4del
NM_001077489.3:c.-30_-4del NP_001070957.1:n.-30_-4del
NM_001077490.1:c.*1-3915_*1-3889del NP_001070958.1:n.*1-3915_*1-3889del
NM_001077490.2:c.*1-3915_*1-3889del NP_001070958.1:n.*1-3915_*1-3889del
NM_001309840.1:c.-39+2344_-39+2370del NP_001296769.1:n.-39+2344_-39+2370del
NM_001309842.1:c.-30_-4del NP_001296771.1:n.-30_-4del
NM_001309861.1:c.-38-3915_-38-3889del NP_001296790.1:n.-38-3915_-38-3889del
NM_001309883.1:c.*159-3915_*159-3889del NP_001296812.1:n.*159-3915_*159-3889del
NM_016592.2:c.*43-3915_*43-3889del NP_057676.1:n.*43-3915_*43-3889del
NM_016592.3:c.*43-3915_*43-3889del NP_057676.1:n.*43-3915_*43-3889del
NM_080425.2:c.2069-3915_2069-3889del NP_536350.2:n.2069-3915_2069-3889del
NM_080425.3:c.2069-3915_2069-3889del NP_536350.2:n.2069-3915_2069-3889del
NM_080426.2:c.-30_-4del NP_536351.1:n.-30_-4del
NM_080426.3:c.-30_-4del NP_536351.1:n.-30_-4del
NR_003259.1:c.-4294967067+2344_-4294967067+2370del
NR_132273.1:n.406+2879_406+2905del
XM_017027812.2:c.2069-3915_2069-3889del XP_016883301.1:n.2069-3915_2069-3889del
XM_017027813.2:c.2069-3915_2069-3889del XP_016883302.1:n.2069-3915_2069-3889del
XM_017027814.2:c.2069-3915_2069-3889del XP_016883303.1:n.2069-3915_2069-3889del
XM_017027815.1:c.44-3915_44-3889del XP_016883304.1:n.44-3915_44-3889del
XM_017027816.1:c.-334_-308del XP_016883305.1:n.-334_-308del
XM_017027817.1:c.-39+2344_-39+2370del XP_016883306.1:n.-39+2344_-39+2370del
XM_017027819.1:c.-39+2365_-39+2391del XP_016883308.1:n.-39+2365_-39+2391del
XM_017027821.1:c.*43-3915_*43-3889del XP_016883310.1:n.*43-3915_*43-3889del
XM_017027822.1:c.*43-3915_*43-3889del XP_016883311.1:n.*43-3915_*43-3889del
XM_024451872.1:c.44-3915_44-3889del XP_024307640.1:n.44-3915_44-3889del
XM_024451875.1:c.-39+2365_-39+2391del XP_024307643.1:n.-39+2365_-39+2391del
XR_002958471.1:n.596_622del
NM_000516.6:c.-30_-4del NP_000507.1:n.-30_-4del
NM_001077488.4:c.-30_-4del NP_001070956.1:n.-30_-4del
NM_001077489.4:c.-30_-4del NP_001070957.1:n.-30_-4del
NM_001309840.2:c.-39+2344_-39+2370del NP_001296769.1:n.-39+2344_-39+2370del
NM_001309842.2:c.-30_-4del NP_001296771.1:n.-30_-4del
NM_001309861.2:c.-38-3915_-38-3889del NP_001296790.1:n.-38-3915_-38-3889del
NM_016592.4:c.*43-3915_*43-3889del NP_057676.1:n.*43-3915_*43-3889del
NM_080426.4:c.-30_-4del NP_536351.1:n.-30_-4del
NM_000516.7:c.-30_-4del MANE Select NP_000507.1:n.-30_-4del
NM_001077488.5:c.-30_-4del NP_001070956.1:n.-30_-4del
NM_001077490.3:c.*1-3915_*1-3889del NP_001070958.1:n.*1-3915_*1-3889del
NM_016592.5:c.*43-3915_*43-3889del MANE Plus Clinical NP_057676.1:n.*43-3915_*43-3889del
NM_080425.4:c.2069-3915_2069-3889del MANE Plus Clinical NP_536350.2:n.2069-3915_2069-3889del
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