Canonical Allele Identifier: CA636225226
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs534284475
gnomAD v2: 20-57467273-TGGGGAG-T
gnomAD v3: 20-58892218-TGGGGAG-T
gnomAD v4: 20-58892218-TGGGGAG-T
MyVariant Identifiers: chr20:g.57467274_57467279del (hg19) chr20:g.58892219_58892224del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58892231_58892236del , CM000682.2:g.58892231_58892236del GRCh38
NC_000020.10:g.57467286_57467291del , CM000682.1:g.57467286_57467291del GRCh37
NC_000020.9:g.56900681_56900686del NCBI36
NG_016194.1:g.57492_57497del
NG_016194.2:g.57492_57497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3381_2069-3376del ENSP00000265621.6:n.2069-3381_2069-3376del
ENST00000419558.7:c.*43-3381_*43-3376del ENSP00000416234.2:n.*43-3381_*43-3376del
ENST00000423897.7:c.2069-3381_2069-3376del ENSP00000412356.2:n.2069-3381_2069-3376del
ENST00000453292.7:c.781-3381_781-3376del ENSP00000392000.2:n.781-3381_781-3376del
ENST00000462499.6:c.-38-3381_-38-3376del ENSP00000499758.2:n.-38-3381_-38-3376del
ENST00000464624.7:c.2160-3381_2160-3376del ENSP00000499607.2:n.2160-3381_2160-3376del
ENST00000464788.6:c.-39+3018_-39+3023del ENSP00000499239.2:n.-39+3018_-39+3023del
ENST00000467227.6:c.-38-3381_-38-3376del ENSP00000499681.2:n.-38-3381_-38-3376del
ENST00000467321.6:c.-39+3185_-39+3190del ENSP00000499523.2:n.-39+3185_-39+3190del
ENST00000468895.6:c.139+366_139+371del ENSP00000499551.2:n.139+366_139+371del
ENST00000469431.6:c.-39+2825_-39+2830del ENSP00000499654.2:n.-39+2825_-39+2830del
ENST00000470512.6:c.-39+2878_-39+2883del ENSP00000499552.2:n.-39+2878_-39+2883del
ENST00000472183.6:c.-38-3381_-38-3376del ENSP00000499673.2:n.-38-3381_-38-3376del
ENST00000476935.6:c.-39+22_-39+27del ENSP00000499409.2:n.-39+22_-39+27del
ENST00000478585.6:c.-39+2878_-39+2883del ENSP00000499762.2:n.-39+2878_-39+2883del
ENST00000480232.6:c.-39+2682_-39+2687del ENSP00000499545.2:n.-39+2682_-39+2687del
ENST00000481039.6:c.-39+3323_-39+3328del ENSP00000499767.2:n.-39+3323_-39+3328del
ENST00000482112.6:c.-38-3381_-38-3376del ENSP00000499794.2:n.-38-3381_-38-3376del
ENST00000485673.6:c.-39+2682_-39+2687del ENSP00000499334.2:n.-39+2682_-39+2687del
ENST00000488546.6:c.-38-3381_-38-3376del ENSP00000499332.2:n.-38-3381_-38-3376del
ENST00000488652.6:c.-39+22_-39+27del ENSP00000499435.2:n.-39+22_-39+27del
ENST00000492907.6:c.-39+22_-39+27del ENSP00000499443.2:n.-39+22_-39+27del
ENST00000604005.6:c.-39+2899_-39+2904del ENSP00000474219.2:n.-39+2899_-39+2904del
ENST00000663479.2:c.-38-3381_-38-3376del ENSP00000499353.2:n.-38-3381_-38-3376del
ENST00000667293.2:c.-39+3327_-39+3332del ENSP00000499293.2:n.-39+3327_-39+3332del
ENST00000676826.2:c.2069-3381_2069-3376del ENSP00000504675.2:n.2069-3381_2069-3376del
ENST00000682803.1:c.-366+366_-366+371del ENSP00000507069.1:n.-366+366_-366+371del
ENST00000683015.1:c.909+1442_909+1447del ENSP00000506815.1:n.909+1442_909+1447del
ENST00000306090.12:c.44-3381_44-3376del ENSP00000304472.12:n.44-3381_44-3376del
ENST00000338783.7:c.139+366_139+371del ENSP00000345971.7:n.139+366_139+371del
ENST00000349036.8:c.2069-3381_2069-3376del ENSP00000265621.5:n.2069-3381_2069-3376del
ENST00000354359.12:c.139+366_139+371del ENSP00000346328.7:n.139+366_139+371del
ENST00000371085.8:c.139+366_139+371del MANE Select ENSP00000360126.3:n.139+366_139+371del
ENST00000371100.9:c.2069-3381_2069-3376del MANE Plus Clinical ENSP00000360141.3:n.2069-3381_2069-3376del
ENST00000419558.6:c.*43-3381_*43-3376del ENSP00000416234.2:n.*43-3381_*43-3376del
ENST00000423897.6:c.2069-3381_2069-3376del ENSP00000412356.2:n.2069-3381_2069-3376del
ENST00000453292.6:c.*43-3381_*43-3376del ENSP00000392000.2:n.*43-3381_*43-3376del
ENST00000461152.6:c.909+1442_909+1447del ENSP00000499274.1:n.909+1442_909+1447del
ENST00000481768.6:c.2227-3381_2227-3376del ENSP00000499644.2:n.2227-3381_2227-3376del
ENST00000490374.6:n.223-3381_223-3376del
ENST00000657090.1:c.-38-3381_-38-3376del ENSP00000499380.1:n.-38-3381_-38-3376del
ENST00000663479.1:c.-38-3381_-38-3376del ENSP00000499353.1:n.-38-3381_-38-3376del
ENST00000667293.1:c.11-3381_11-3376del ENSP00000499293.1:n.11-3381_11-3376del
ENST00000676826.1:c.2069-3381_2069-3376del ENSP00000504675.1:n.2069-3381_2069-3376del
ENST00000265620.11:c.139+366_139+371del ENSP00000265620.7:n.139+366_139+371del
ENST00000306090.11:c.93+412_93+417del ENSP00000304472.11:n.93+412_93+417del
ENST00000313949.11:c.*43-3381_*43-3376del ENSP00000323571.7:n.*43-3381_*43-3376del
ENST00000338783.6:c.106+366_106+371del ENSP00000345971.6:n.106+366_106+371del
ENST00000349036.7:c.188-3381_188-3376del ENSP00000265621.4:n.188-3381_188-3376del
ENST00000354359.11:c.139+366_139+371del ENSP00000346328.7:n.139+366_139+371del
ENST00000371075.7:c.*43-3381_*43-3376del MANE Plus Clinical ENSP00000360115.3:n.*43-3381_*43-3376del
ENST00000371081.5:c.139+366_139+371del ENSP00000360122.1:n.139+366_139+371del
ENST00000371085.7:c.139+366_139+371del ENSP00000360126.3:n.139+366_139+371del
ENST00000371095.7:c.139+366_139+371del ENSP00000360136.3:n.139+366_139+371del
ENST00000371098.6:c.*43-3381_*43-3376del ENSP00000360139.2:n.*43-3381_*43-3376del
ENST00000371100.8:c.2069-3381_2069-3376del ENSP00000360141.3:n.2069-3381_2069-3376del
ENST00000371102.8:c.2069-3381_2069-3376del ENSP00000360143.4:n.2069-3381_2069-3376del
ENST00000419558.5:c.384-3381_384-3376del
ENST00000423897.5:c.157-3381_157-3376del
ENST00000450130.5:c.228-3381_228-3376del
ENST00000453292.5:c.544-3381_544-3376del ENSP00000392000.1:n.544-3381_544-3376del
ENST00000461152.5:n.147+1442_147+1447del
ENST00000462499.5:n.259-3381_259-3376del
ENST00000464624.6:n.2355+366_2355+371del
ENST00000464788.5:n.67+3018_67+3023del
ENST00000464960.5:n.407-3381_407-3376del
ENST00000467227.5:n.123-3381_123-3376del
ENST00000467321.5:n.154+3185_154+3190del
ENST00000468895.5:n.50+3323_50+3328del
ENST00000469431.5:n.256+2825_256+2830del
ENST00000470512.5:n.210+2878_210+2883del
ENST00000472183.5:n.392-3381_392-3376del
ENST00000476935.5:n.173+22_173+27del
ENST00000477931.5:n.254+2878_254+2883del
ENST00000478585.5:n.194+2878_194+2883del
ENST00000480232.5:n.155+2682_155+2687del
ENST00000480975.5:n.183+2878_183+2883del
ENST00000481039.5:n.56+3327_56+3332del
ENST00000481768.5:n.1324-3381_1324-3376del
ENST00000482112.5:n.259-3381_259-3376del
ENST00000484504.5:n.127+2878_127+2883del
ENST00000485673.5:n.426+2682_426+2687del
ENST00000488546.5:n.41-3381_41-3376del
ENST00000488652.5:n.229+22_229+27del
ENST00000490374.5:n.255-3381_255-3376del
ENST00000491348.5:n.534-3381_534-3376del
ENST00000492907.5:n.132+22_132+27del
ENST00000493744.5:n.233-3381_233-3376del
ENST00000604005.5:c.-39+2899_-39+2904del ENSP00000474219.1:n.-39+2899_-39+2904del
NM_000516.4:c.139+366_139+371del NP_000507.1:n.139+366_139+371del
NM_000516.5:c.139+366_139+371del NP_000507.1:n.139+366_139+371del
NM_001077488.2:c.139+366_139+371del NP_001070956.1:n.139+366_139+371del
NM_001077488.3:c.139+366_139+371del NP_001070956.1:n.139+366_139+371del
NM_001077489.2:c.139+366_139+371del NP_001070957.1:n.139+366_139+371del
NM_001077489.3:c.139+366_139+371del NP_001070957.1:n.139+366_139+371del
NM_001077490.1:c.*1-3381_*1-3376del NP_001070958.1:n.*1-3381_*1-3376del
NM_001077490.2:c.*1-3381_*1-3376del NP_001070958.1:n.*1-3381_*1-3376del
NM_001309840.1:c.-39+2878_-39+2883del NP_001296769.1:n.-39+2878_-39+2883del
NM_001309842.1:c.139+366_139+371del NP_001296771.1:n.139+366_139+371del
NM_001309861.1:c.-38-3381_-38-3376del NP_001296790.1:n.-38-3381_-38-3376del
NM_001309883.1:c.*159-3381_*159-3376del NP_001296812.1:n.*159-3381_*159-3376del
NM_016592.2:c.*43-3381_*43-3376del NP_057676.1:n.*43-3381_*43-3376del
NM_016592.3:c.*43-3381_*43-3376del NP_057676.1:n.*43-3381_*43-3376del
NM_080425.2:c.2069-3381_2069-3376del NP_536350.2:n.2069-3381_2069-3376del
NM_080425.3:c.2069-3381_2069-3376del NP_536350.2:n.2069-3381_2069-3376del
NM_080426.2:c.139+366_139+371del NP_536351.1:n.139+366_139+371del
NM_080426.3:c.139+366_139+371del NP_536351.1:n.139+366_139+371del
NR_003259.1:c.-4294967067+2878_-4294967067+2883del
NR_132272.1:n.46+22_46+27del
NR_132273.1:n.407-3381_407-3376del
XM_017027812.2:c.2069-3381_2069-3376del XP_016883301.1:n.2069-3381_2069-3376del
XM_017027813.2:c.2069-3381_2069-3376del XP_016883302.1:n.2069-3381_2069-3376del
XM_017027814.2:c.2069-3381_2069-3376del XP_016883303.1:n.2069-3381_2069-3376del
XM_017027815.1:c.44-3381_44-3376del XP_016883304.1:n.44-3381_44-3376del
XM_017027816.1:c.-166+366_-166+371del XP_016883305.1:n.-166+366_-166+371del
XM_017027817.1:c.-39+2878_-39+2883del XP_016883306.1:n.-39+2878_-39+2883del
XM_017027818.2:c.-39+22_-39+27del XP_016883307.1:n.-39+22_-39+27del
XM_017027819.1:c.-39+2899_-39+2904del XP_016883308.1:n.-39+2899_-39+2904del
XM_017027821.1:c.*43-3381_*43-3376del XP_016883310.1:n.*43-3381_*43-3376del
XM_017027822.1:c.*43-3381_*43-3376del XP_016883311.1:n.*43-3381_*43-3376del
XM_024451872.1:c.44-3381_44-3376del XP_024307640.1:n.44-3381_44-3376del
XM_024451873.1:c.-39+22_-39+27del XP_024307641.1:n.-39+22_-39+27del
XM_024451875.1:c.-39+2899_-39+2904del XP_024307643.1:n.-39+2899_-39+2904del
XR_002958471.1:n.764+366_764+371del
NM_000516.6:c.139+366_139+371del NP_000507.1:n.139+366_139+371del
NM_001077488.4:c.139+366_139+371del NP_001070956.1:n.139+366_139+371del
NM_001077489.4:c.139+366_139+371del NP_001070957.1:n.139+366_139+371del
NM_001309840.2:c.-39+2878_-39+2883del NP_001296769.1:n.-39+2878_-39+2883del
NM_001309842.2:c.139+366_139+371del NP_001296771.1:n.139+366_139+371del
NM_001309861.2:c.-38-3381_-38-3376del NP_001296790.1:n.-38-3381_-38-3376del
NM_016592.4:c.*43-3381_*43-3376del NP_057676.1:n.*43-3381_*43-3376del
NM_080426.4:c.139+366_139+371del NP_536351.1:n.139+366_139+371del
NR_132272.2:n.47+22_47+27del
NM_000516.7:c.139+366_139+371del MANE Select NP_000507.1:n.139+366_139+371del
NM_001077488.5:c.139+366_139+371del NP_001070956.1:n.139+366_139+371del
NM_001077490.3:c.*1-3381_*1-3376del NP_001070958.1:n.*1-3381_*1-3376del
NM_016592.5:c.*43-3381_*43-3376del MANE Plus Clinical NP_057676.1:n.*43-3381_*43-3376del
NM_080425.4:c.2069-3381_2069-3376del MANE Plus Clinical NP_536350.2:n.2069-3381_2069-3376del
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