Canonical Allele Identifier: CA9926851
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs758306402
ExAC: 20:57466734 CCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCG / C
gnomAD v2: 20-57466734-CCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCG-C
gnomAD v3: 20-58891679-CCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCG-C
gnomAD v4: 20-58891679-CCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCG-C
MyVariant Identifiers: chr20:g.57466738_57466773del (hg19) chr20:g.57466735_57466770del (hg19) chr20:g.58891680_58891715del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891691_58891726del , CM000682.2:g.58891691_58891726del GRCh38
NC_000020.10:g.57466746_57466781del , CM000682.1:g.57466746_57466781del GRCh37
NC_000020.9:g.56900141_56900176del NCBI36
NG_016194.1:g.56952_56987del
NG_016194.2:g.56952_56987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3921_2069-3886del ENSP00000265621.6:n.2069-3921_2069-3886del
ENST00000419558.7:c.*43-3921_*43-3886del ENSP00000416234.2:n.*43-3921_*43-3886del
ENST00000423897.7:c.2069-3921_2069-3886del ENSP00000412356.2:n.2069-3921_2069-3886del
ENST00000453292.7:c.781-3921_781-3886del ENSP00000392000.2:n.781-3921_781-3886del
ENST00000462499.6:c.-38-3921_-38-3886del ENSP00000499758.2:n.-38-3921_-38-3886del
ENST00000464624.7:c.2160-3921_2160-3886del ENSP00000499607.2:n.2160-3921_2160-3886del
ENST00000464788.6:c.-39+2478_-39+2513del ENSP00000499239.2:n.-39+2478_-39+2513del
ENST00000467227.6:c.-38-3921_-38-3886del ENSP00000499681.2:n.-38-3921_-38-3886del
ENST00000467321.6:c.-39+2645_-39+2680del ENSP00000499523.2:n.-39+2645_-39+2680del
ENST00000469431.6:c.-39+2285_-39+2320del ENSP00000499654.2:n.-39+2285_-39+2320del
ENST00000470512.6:c.-39+2338_-39+2373del ENSP00000499552.2:n.-39+2338_-39+2373del
ENST00000472183.6:c.-38-3921_-38-3886del ENSP00000499673.2:n.-38-3921_-38-3886del
ENST00000478585.6:c.-39+2338_-39+2373del ENSP00000499762.2:n.-39+2338_-39+2373del
ENST00000480232.6:c.-39+2142_-39+2177del ENSP00000499545.2:n.-39+2142_-39+2177del
ENST00000481039.6:c.-39+2783_-39+2818del ENSP00000499767.2:n.-39+2783_-39+2818del
ENST00000482112.6:c.-38-3921_-38-3886del ENSP00000499794.2:n.-38-3921_-38-3886del
ENST00000485673.6:c.-39+2142_-39+2177del ENSP00000499334.2:n.-39+2142_-39+2177del
ENST00000488546.6:c.-39+2873_-39+2908del ENSP00000499332.2:n.-39+2873_-39+2908del
ENST00000604005.6:c.-39+2359_-39+2394del ENSP00000474219.2:n.-39+2359_-39+2394del
ENST00000663479.2:c.-38-3921_-38-3886del ENSP00000499353.2:n.-38-3921_-38-3886del
ENST00000667293.2:c.-39+2787_-39+2822del ENSP00000499293.2:n.-39+2787_-39+2822del
ENST00000676826.2:c.2069-3921_2069-3886del ENSP00000504675.2:n.2069-3921_2069-3886del
ENST00000683015.1:c.909+902_909+937del ENSP00000506815.1:n.909+902_909+937del
ENST00000306090.12:c.44-3921_44-3886del ENSP00000304472.12:n.44-3921_44-3886del
ENST00000349036.8:c.2069-3921_2069-3886del ENSP00000265621.5:n.2069-3921_2069-3886del
ENST00000354359.12:c.-36_-1del ENSP00000346328.7:n.-36_-1del
ENST00000371085.8:c.-36_-1del MANE Select ENSP00000360126.3:n.-36_-1del
ENST00000371100.9:c.2069-3921_2069-3886del MANE Plus Clinical ENSP00000360141.3:n.2069-3921_2069-3886del
ENST00000419558.6:c.*43-3921_*43-3886del ENSP00000416234.2:n.*43-3921_*43-3886del
ENST00000423897.6:c.2069-3921_2069-3886del ENSP00000412356.2:n.2069-3921_2069-3886del
ENST00000453292.6:c.*43-3921_*43-3886del ENSP00000392000.2:n.*43-3921_*43-3886del
ENST00000461152.6:c.909+902_909+937del ENSP00000499274.1:n.909+902_909+937del
ENST00000481768.6:c.2227-3921_2227-3886del ENSP00000499644.2:n.2227-3921_2227-3886del
ENST00000490374.6:n.223-3921_223-3886del
ENST00000657090.1:c.-38-3921_-38-3886del ENSP00000499380.1:n.-38-3921_-38-3886del
ENST00000663479.1:c.-38-3921_-38-3886del ENSP00000499353.1:n.-38-3921_-38-3886del
ENST00000667293.1:c.11-3921_11-3886del ENSP00000499293.1:n.11-3921_11-3886del
ENST00000676826.1:c.2069-3921_2069-3886del ENSP00000504675.1:n.2069-3921_2069-3886del
ENST00000265620.11:c.-36_-1del ENSP00000265620.7:n.-36_-1del
ENST00000313949.11:c.*43-3921_*43-3886del ENSP00000323571.7:n.*43-3921_*43-3886del
ENST00000349036.7:c.188-3921_188-3886del ENSP00000265621.4:n.188-3921_188-3886del
ENST00000354359.11:c.-36_-1del ENSP00000346328.7:n.-36_-1del
ENST00000371075.7:c.*43-3921_*43-3886del MANE Plus Clinical ENSP00000360115.3:n.*43-3921_*43-3886del
ENST00000371085.7:c.-36_-1del ENSP00000360126.3:n.-36_-1del
ENST00000371095.7:c.-36_-1del ENSP00000360136.3:n.-36_-1del
ENST00000371098.6:c.*43-3921_*43-3886del ENSP00000360139.2:n.*43-3921_*43-3886del
ENST00000371100.8:c.2069-3921_2069-3886del ENSP00000360141.3:n.2069-3921_2069-3886del
ENST00000371102.8:c.2069-3921_2069-3886del ENSP00000360143.4:n.2069-3921_2069-3886del
ENST00000419558.5:c.384-3921_384-3886del
ENST00000423897.5:c.157-3921_157-3886del
ENST00000450130.5:c.228-3921_228-3886del
ENST00000453292.5:c.544-3921_544-3886del ENSP00000392000.1:n.544-3921_544-3886del
ENST00000461152.5:n.147+902_147+937del
ENST00000462499.5:n.259-3921_259-3886del
ENST00000464624.6:n.2181_2216del
ENST00000464788.5:n.67+2478_67+2513del
ENST00000464960.5:n.406+2873_406+2908del
ENST00000467227.5:n.123-3921_123-3886del
ENST00000467321.5:n.154+2645_154+2680del
ENST00000468895.5:n.50+2783_50+2818del
ENST00000469431.5:n.256+2285_256+2320del
ENST00000470512.5:n.210+2338_210+2373del
ENST00000472183.5:n.392-3921_392-3886del
ENST00000477931.5:n.254+2338_254+2373del
ENST00000478585.5:n.194+2338_194+2373del
ENST00000480232.5:n.155+2142_155+2177del
ENST00000480975.5:n.183+2338_183+2373del
ENST00000481039.5:n.56+2787_56+2822del
ENST00000481768.5:n.1324-3921_1324-3886del
ENST00000482112.5:n.259-3921_259-3886del
ENST00000484504.5:n.127+2338_127+2373del
ENST00000485673.5:n.426+2142_426+2177del
ENST00000488546.5:n.40+2873_40+2908del
ENST00000490374.5:n.255-3921_255-3886del
ENST00000491348.5:n.534-3921_534-3886del
ENST00000493744.5:n.233-3921_233-3886del
ENST00000604005.5:c.-39+2359_-39+2394del ENSP00000474219.1:n.-39+2359_-39+2394del
NM_000516.4:c.-36_-1del NP_000507.1:n.-36_-1del
NM_000516.5:c.-36_-1del NP_000507.1:n.-36_-1del
NM_001077488.2:c.-36_-1del NP_001070956.1:n.-36_-1del
NM_001077488.3:c.-36_-1del NP_001070956.1:n.-36_-1del
NM_001077489.2:c.-36_-1del NP_001070957.1:n.-36_-1del
NM_001077489.3:c.-36_-1del NP_001070957.1:n.-36_-1del
NM_001077490.1:c.*1-3921_*1-3886del NP_001070958.1:n.*1-3921_*1-3886del
NM_001077490.2:c.*1-3921_*1-3886del NP_001070958.1:n.*1-3921_*1-3886del
NM_001309840.1:c.-39+2338_-39+2373del NP_001296769.1:n.-39+2338_-39+2373del
NM_001309842.1:c.-36_-1del NP_001296771.1:n.-36_-1del
NM_001309861.1:c.-38-3921_-38-3886del NP_001296790.1:n.-38-3921_-38-3886del
NM_001309883.1:c.*159-3921_*159-3886del NP_001296812.1:n.*159-3921_*159-3886del
NM_016592.2:c.*43-3921_*43-3886del NP_057676.1:n.*43-3921_*43-3886del
NM_016592.3:c.*43-3921_*43-3886del NP_057676.1:n.*43-3921_*43-3886del
NM_080425.2:c.2069-3921_2069-3886del NP_536350.2:n.2069-3921_2069-3886del
NM_080425.3:c.2069-3921_2069-3886del NP_536350.2:n.2069-3921_2069-3886del
NM_080426.2:c.-36_-1del NP_536351.1:n.-36_-1del
NM_080426.3:c.-36_-1del NP_536351.1:n.-36_-1del
NR_003259.1:c.-4294967067+2338_-4294967067+2373del
NR_132273.1:n.406+2873_406+2908del
XM_017027812.2:c.2069-3921_2069-3886del XP_016883301.1:n.2069-3921_2069-3886del
XM_017027813.2:c.2069-3921_2069-3886del XP_016883302.1:n.2069-3921_2069-3886del
XM_017027814.2:c.2069-3921_2069-3886del XP_016883303.1:n.2069-3921_2069-3886del
XM_017027815.1:c.44-3921_44-3886del XP_016883304.1:n.44-3921_44-3886del
XM_017027816.1:c.-340_-305del XP_016883305.1:n.-340_-305del
XM_017027817.1:c.-39+2338_-39+2373del XP_016883306.1:n.-39+2338_-39+2373del
XM_017027819.1:c.-39+2359_-39+2394del XP_016883308.1:n.-39+2359_-39+2394del
XM_017027821.1:c.*43-3921_*43-3886del XP_016883310.1:n.*43-3921_*43-3886del
XM_017027822.1:c.*43-3921_*43-3886del XP_016883311.1:n.*43-3921_*43-3886del
XM_024451872.1:c.44-3921_44-3886del XP_024307640.1:n.44-3921_44-3886del
XM_024451875.1:c.-39+2359_-39+2394del XP_024307643.1:n.-39+2359_-39+2394del
XR_002958471.1:n.590_625del
NM_000516.6:c.-36_-1del NP_000507.1:n.-36_-1del
NM_001077488.4:c.-36_-1del NP_001070956.1:n.-36_-1del
NM_001077489.4:c.-36_-1del NP_001070957.1:n.-36_-1del
NM_001309840.2:c.-39+2338_-39+2373del NP_001296769.1:n.-39+2338_-39+2373del
NM_001309842.2:c.-36_-1del NP_001296771.1:n.-36_-1del
NM_001309861.2:c.-38-3921_-38-3886del NP_001296790.1:n.-38-3921_-38-3886del
NM_016592.4:c.*43-3921_*43-3886del NP_057676.1:n.*43-3921_*43-3886del
NM_080426.4:c.-36_-1del NP_536351.1:n.-36_-1del
NM_000516.7:c.-36_-1del MANE Select NP_000507.1:n.-36_-1del
NM_001077488.5:c.-36_-1del NP_001070956.1:n.-36_-1del
NM_001077490.3:c.*1-3921_*1-3886del NP_001070958.1:n.*1-3921_*1-3886del
NM_016592.5:c.*43-3921_*43-3886del MANE Plus Clinical NP_057676.1:n.*43-3921_*43-3886del
NM_080425.4:c.2069-3921_2069-3886del MANE Plus Clinical NP_536350.2:n.2069-3921_2069-3886del
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