Canonical Allele Identifier: CA636225144
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs1303609722
gnomAD v2: 20-57466997-CGCCCCCCGCCCCGGGCGCGCGCTCCCGA-C
gnomAD v3: 20-58891942-CGCCCCCCGCCCCGGGCGCGCGCTCCCGA-C
gnomAD v4: 20-58891942-CGCCCCCCGCCCCGGGCGCGCGCTCCCGA-C
MyVariant Identifiers: chr20:g.57466998_57467025del (hg19) chr20:g.58891943_58891970del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891954_58891981del , CM000682.2:g.58891954_58891981del GRCh38
NC_000020.10:g.57467009_57467036del , CM000682.1:g.57467009_57467036del GRCh37
NC_000020.9:g.56900404_56900431del NCBI36
NG_016194.1:g.57215_57242del
NG_016194.2:g.57215_57242del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3658_2069-3631del ENSP00000265621.6:n.2069-3658_2069-3631del
ENST00000419558.7:c.*43-3658_*43-3631del ENSP00000416234.2:n.*43-3658_*43-3631del
ENST00000423897.7:c.2069-3658_2069-3631del ENSP00000412356.2:n.2069-3658_2069-3631del
ENST00000453292.7:c.781-3658_781-3631del ENSP00000392000.2:n.781-3658_781-3631del
ENST00000462499.6:c.-38-3658_-38-3631del ENSP00000499758.2:n.-38-3658_-38-3631del
ENST00000464624.7:c.2160-3658_2160-3631del ENSP00000499607.2:n.2160-3658_2160-3631del
ENST00000464788.6:c.-39+2741_-39+2768del ENSP00000499239.2:n.-39+2741_-39+2768del
ENST00000467227.6:c.-38-3658_-38-3631del ENSP00000499681.2:n.-38-3658_-38-3631del
ENST00000467321.6:c.-39+2908_-39+2935del ENSP00000499523.2:n.-39+2908_-39+2935del
ENST00000468895.6:c.139+89_139+116del ENSP00000499551.2:n.139+89_139+116del
ENST00000469431.6:c.-39+2548_-39+2575del ENSP00000499654.2:n.-39+2548_-39+2575del
ENST00000470512.6:c.-39+2601_-39+2628del ENSP00000499552.2:n.-39+2601_-39+2628del
ENST00000472183.6:c.-38-3658_-38-3631del ENSP00000499673.2:n.-38-3658_-38-3631del
ENST00000478585.6:c.-39+2601_-39+2628del ENSP00000499762.2:n.-39+2601_-39+2628del
ENST00000480232.6:c.-39+2405_-39+2432del ENSP00000499545.2:n.-39+2405_-39+2432del
ENST00000481039.6:c.-39+3046_-39+3073del ENSP00000499767.2:n.-39+3046_-39+3073del
ENST00000482112.6:c.-38-3658_-38-3631del ENSP00000499794.2:n.-38-3658_-38-3631del
ENST00000485673.6:c.-39+2405_-39+2432del ENSP00000499334.2:n.-39+2405_-39+2432del
ENST00000488546.6:c.-39+3136_-39+3163del ENSP00000499332.2:n.-39+3136_-39+3163del
ENST00000604005.6:c.-39+2622_-39+2649del ENSP00000474219.2:n.-39+2622_-39+2649del
ENST00000663479.2:c.-38-3658_-38-3631del ENSP00000499353.2:n.-38-3658_-38-3631del
ENST00000667293.2:c.-39+3050_-39+3077del ENSP00000499293.2:n.-39+3050_-39+3077del
ENST00000676826.2:c.2069-3658_2069-3631del ENSP00000504675.2:n.2069-3658_2069-3631del
ENST00000682803.1:c.-366+89_-366+116del ENSP00000507069.1:n.-366+89_-366+116del
ENST00000683015.1:c.909+1165_909+1192del ENSP00000506815.1:n.909+1165_909+1192del
ENST00000306090.12:c.44-3658_44-3631del ENSP00000304472.12:n.44-3658_44-3631del
ENST00000338783.7:c.139+89_139+116del ENSP00000345971.7:n.139+89_139+116del
ENST00000349036.8:c.2069-3658_2069-3631del ENSP00000265621.5:n.2069-3658_2069-3631del
ENST00000354359.12:c.139+89_139+116del ENSP00000346328.7:n.139+89_139+116del
ENST00000371085.8:c.139+89_139+116del MANE Select ENSP00000360126.3:n.139+89_139+116del
ENST00000371100.9:c.2069-3658_2069-3631del MANE Plus Clinical ENSP00000360141.3:n.2069-3658_2069-3631del
ENST00000419558.6:c.*43-3658_*43-3631del ENSP00000416234.2:n.*43-3658_*43-3631del
ENST00000423897.6:c.2069-3658_2069-3631del ENSP00000412356.2:n.2069-3658_2069-3631del
ENST00000453292.6:c.*43-3658_*43-3631del ENSP00000392000.2:n.*43-3658_*43-3631del
ENST00000461152.6:c.909+1165_909+1192del ENSP00000499274.1:n.909+1165_909+1192del
ENST00000481768.6:c.2227-3658_2227-3631del ENSP00000499644.2:n.2227-3658_2227-3631del
ENST00000490374.6:n.223-3658_223-3631del
ENST00000657090.1:c.-38-3658_-38-3631del ENSP00000499380.1:n.-38-3658_-38-3631del
ENST00000663479.1:c.-38-3658_-38-3631del ENSP00000499353.1:n.-38-3658_-38-3631del
ENST00000667293.1:c.11-3658_11-3631del ENSP00000499293.1:n.11-3658_11-3631del
ENST00000676826.1:c.2069-3658_2069-3631del ENSP00000504675.1:n.2069-3658_2069-3631del
ENST00000265620.11:c.139+89_139+116del ENSP00000265620.7:n.139+89_139+116del
ENST00000306090.11:c.93+135_93+162del ENSP00000304472.11:n.93+135_93+162del
ENST00000313949.11:c.*43-3658_*43-3631del ENSP00000323571.7:n.*43-3658_*43-3631del
ENST00000338783.6:c.106+89_106+116del ENSP00000345971.6:n.106+89_106+116del
ENST00000349036.7:c.188-3658_188-3631del ENSP00000265621.4:n.188-3658_188-3631del
ENST00000354359.11:c.139+89_139+116del ENSP00000346328.7:n.139+89_139+116del
ENST00000371075.7:c.*43-3658_*43-3631del MANE Plus Clinical ENSP00000360115.3:n.*43-3658_*43-3631del
ENST00000371081.5:c.139+89_139+116del ENSP00000360122.1:n.139+89_139+116del
ENST00000371085.7:c.139+89_139+116del ENSP00000360126.3:n.139+89_139+116del
ENST00000371095.7:c.139+89_139+116del ENSP00000360136.3:n.139+89_139+116del
ENST00000371098.6:c.*43-3658_*43-3631del ENSP00000360139.2:n.*43-3658_*43-3631del
ENST00000371100.8:c.2069-3658_2069-3631del ENSP00000360141.3:n.2069-3658_2069-3631del
ENST00000371102.8:c.2069-3658_2069-3631del ENSP00000360143.4:n.2069-3658_2069-3631del
ENST00000419558.5:c.384-3658_384-3631del
ENST00000423897.5:c.157-3658_157-3631del
ENST00000450130.5:c.228-3658_228-3631del
ENST00000453292.5:c.544-3658_544-3631del ENSP00000392000.1:n.544-3658_544-3631del
ENST00000461152.5:n.147+1165_147+1192del
ENST00000462499.5:n.259-3658_259-3631del
ENST00000464624.6:n.2355+89_2355+116del
ENST00000464788.5:n.67+2741_67+2768del
ENST00000464960.5:n.406+3136_406+3163del
ENST00000467227.5:n.123-3658_123-3631del
ENST00000467321.5:n.154+2908_154+2935del
ENST00000468895.5:n.50+3046_50+3073del
ENST00000469431.5:n.256+2548_256+2575del
ENST00000470512.5:n.210+2601_210+2628del
ENST00000472183.5:n.392-3658_392-3631del
ENST00000477931.5:n.254+2601_254+2628del
ENST00000478585.5:n.194+2601_194+2628del
ENST00000480232.5:n.155+2405_155+2432del
ENST00000480975.5:n.183+2601_183+2628del
ENST00000481039.5:n.56+3050_56+3077del
ENST00000481768.5:n.1324-3658_1324-3631del
ENST00000482112.5:n.259-3658_259-3631del
ENST00000484504.5:n.127+2601_127+2628del
ENST00000485673.5:n.426+2405_426+2432del
ENST00000488546.5:n.40+3136_40+3163del
ENST00000490374.5:n.255-3658_255-3631del
ENST00000491348.5:n.534-3658_534-3631del
ENST00000493744.5:n.233-3658_233-3631del
ENST00000604005.5:c.-39+2622_-39+2649del ENSP00000474219.1:n.-39+2622_-39+2649del
NM_000516.4:c.139+89_139+116del NP_000507.1:n.139+89_139+116del
NM_000516.5:c.139+89_139+116del NP_000507.1:n.139+89_139+116del
NM_001077488.2:c.139+89_139+116del NP_001070956.1:n.139+89_139+116del
NM_001077488.3:c.139+89_139+116del NP_001070956.1:n.139+89_139+116del
NM_001077489.2:c.139+89_139+116del NP_001070957.1:n.139+89_139+116del
NM_001077489.3:c.139+89_139+116del NP_001070957.1:n.139+89_139+116del
NM_001077490.1:c.*1-3658_*1-3631del NP_001070958.1:n.*1-3658_*1-3631del
NM_001077490.2:c.*1-3658_*1-3631del NP_001070958.1:n.*1-3658_*1-3631del
NM_001309840.1:c.-39+2601_-39+2628del NP_001296769.1:n.-39+2601_-39+2628del
NM_001309842.1:c.139+89_139+116del NP_001296771.1:n.139+89_139+116del
NM_001309861.1:c.-38-3658_-38-3631del NP_001296790.1:n.-38-3658_-38-3631del
NM_001309883.1:c.*159-3658_*159-3631del NP_001296812.1:n.*159-3658_*159-3631del
NM_016592.2:c.*43-3658_*43-3631del NP_057676.1:n.*43-3658_*43-3631del
NM_016592.3:c.*43-3658_*43-3631del NP_057676.1:n.*43-3658_*43-3631del
NM_080425.2:c.2069-3658_2069-3631del NP_536350.2:n.2069-3658_2069-3631del
NM_080425.3:c.2069-3658_2069-3631del NP_536350.2:n.2069-3658_2069-3631del
NM_080426.2:c.139+89_139+116del NP_536351.1:n.139+89_139+116del
NM_080426.3:c.139+89_139+116del NP_536351.1:n.139+89_139+116del
NR_003259.1:c.-4294967067+2601_-4294967067+2628del
NR_132273.1:n.406+3136_406+3163del
XM_017027812.2:c.2069-3658_2069-3631del XP_016883301.1:n.2069-3658_2069-3631del
XM_017027813.2:c.2069-3658_2069-3631del XP_016883302.1:n.2069-3658_2069-3631del
XM_017027814.2:c.2069-3658_2069-3631del XP_016883303.1:n.2069-3658_2069-3631del
XM_017027815.1:c.44-3658_44-3631del XP_016883304.1:n.44-3658_44-3631del
XM_017027816.1:c.-166+89_-166+116del XP_016883305.1:n.-166+89_-166+116del
XM_017027817.1:c.-39+2601_-39+2628del XP_016883306.1:n.-39+2601_-39+2628del
XM_017027819.1:c.-39+2622_-39+2649del XP_016883308.1:n.-39+2622_-39+2649del
XM_017027821.1:c.*43-3658_*43-3631del XP_016883310.1:n.*43-3658_*43-3631del
XM_017027822.1:c.*43-3658_*43-3631del XP_016883311.1:n.*43-3658_*43-3631del
XM_024451872.1:c.44-3658_44-3631del XP_024307640.1:n.44-3658_44-3631del
XM_024451875.1:c.-39+2622_-39+2649del XP_024307643.1:n.-39+2622_-39+2649del
XR_002958471.1:n.764+89_764+116del
NM_000516.6:c.139+89_139+116del NP_000507.1:n.139+89_139+116del
NM_001077488.4:c.139+89_139+116del NP_001070956.1:n.139+89_139+116del
NM_001077489.4:c.139+89_139+116del NP_001070957.1:n.139+89_139+116del
NM_001309840.2:c.-39+2601_-39+2628del NP_001296769.1:n.-39+2601_-39+2628del
NM_001309842.2:c.139+89_139+116del NP_001296771.1:n.139+89_139+116del
NM_001309861.2:c.-38-3658_-38-3631del NP_001296790.1:n.-38-3658_-38-3631del
NM_016592.4:c.*43-3658_*43-3631del NP_057676.1:n.*43-3658_*43-3631del
NM_080426.4:c.139+89_139+116del NP_536351.1:n.139+89_139+116del
NM_000516.7:c.139+89_139+116del MANE Select NP_000507.1:n.139+89_139+116del
NM_001077488.5:c.139+89_139+116del NP_001070956.1:n.139+89_139+116del
NM_001077490.3:c.*1-3658_*1-3631del NP_001070958.1:n.*1-3658_*1-3631del
NM_016592.5:c.*43-3658_*43-3631del MANE Plus Clinical NP_057676.1:n.*43-3658_*43-3631del
NM_080425.4:c.2069-3658_2069-3631del MANE Plus Clinical NP_536350.2:n.2069-3658_2069-3631del
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