Canonical Allele Identifier: CA2653521896
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58891908-CGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891910_58891956del , CM000682.2:g.58891910_58891956del GRCh38
NC_000020.10:g.57466965_57467011del , CM000682.1:g.57466965_57467011del GRCh37
NC_000020.9:g.56900360_56900406del NCBI36
NG_016194.1:g.57171_57217del
NG_016194.2:g.57171_57217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3702_2069-3656del ENSP00000265621.6:n.2069-3702_2069-3656del
ENST00000419558.7:c.*43-3702_*43-3656del ENSP00000416234.2:n.*43-3702_*43-3656del
ENST00000423897.7:c.2069-3702_2069-3656del ENSP00000412356.2:n.2069-3702_2069-3656del
ENST00000453292.7:c.781-3702_781-3656del ENSP00000392000.2:n.781-3702_781-3656del
ENST00000462499.6:c.-38-3702_-38-3656del ENSP00000499758.2:n.-38-3702_-38-3656del
ENST00000464624.7:c.2160-3702_2160-3656del ENSP00000499607.2:n.2160-3702_2160-3656del
ENST00000464788.6:c.-39+2697_-39+2743del ENSP00000499239.2:n.-39+2697_-39+2743del
ENST00000467227.6:c.-38-3702_-38-3656del ENSP00000499681.2:n.-38-3702_-38-3656del
ENST00000467321.6:c.-39+2864_-39+2910del ENSP00000499523.2:n.-39+2864_-39+2910del
ENST00000468895.6:c.139+45_139+91del ENSP00000499551.2:n.139+45_139+91del
ENST00000469431.6:c.-39+2504_-39+2550del ENSP00000499654.2:n.-39+2504_-39+2550del
ENST00000470512.6:c.-39+2557_-39+2603del ENSP00000499552.2:n.-39+2557_-39+2603del
ENST00000472183.6:c.-38-3702_-38-3656del ENSP00000499673.2:n.-38-3702_-38-3656del
ENST00000478585.6:c.-39+2557_-39+2603del ENSP00000499762.2:n.-39+2557_-39+2603del
ENST00000480232.6:c.-39+2361_-39+2407del ENSP00000499545.2:n.-39+2361_-39+2407del
ENST00000481039.6:c.-39+3002_-39+3048del ENSP00000499767.2:n.-39+3002_-39+3048del
ENST00000482112.6:c.-38-3702_-38-3656del ENSP00000499794.2:n.-38-3702_-38-3656del
ENST00000485673.6:c.-39+2361_-39+2407del ENSP00000499334.2:n.-39+2361_-39+2407del
ENST00000488546.6:c.-39+3092_-39+3138del ENSP00000499332.2:n.-39+3092_-39+3138del
ENST00000604005.6:c.-39+2578_-39+2624del ENSP00000474219.2:n.-39+2578_-39+2624del
ENST00000663479.2:c.-38-3702_-38-3656del ENSP00000499353.2:n.-38-3702_-38-3656del
ENST00000667293.2:c.-39+3006_-39+3052del ENSP00000499293.2:n.-39+3006_-39+3052del
ENST00000676826.2:c.2069-3702_2069-3656del ENSP00000504675.2:n.2069-3702_2069-3656del
ENST00000682803.1:c.-366+45_-366+91del ENSP00000507069.1:n.-366+45_-366+91del
ENST00000683015.1:c.909+1121_909+1167del ENSP00000506815.1:n.909+1121_909+1167del
ENST00000306090.12:c.44-3702_44-3656del ENSP00000304472.12:n.44-3702_44-3656del
ENST00000338783.7:c.139+45_139+91del ENSP00000345971.7:n.139+45_139+91del
ENST00000349036.8:c.2069-3702_2069-3656del ENSP00000265621.5:n.2069-3702_2069-3656del
ENST00000354359.12:c.139+45_139+91del ENSP00000346328.7:n.139+45_139+91del
ENST00000371085.8:c.139+45_139+91del MANE Select ENSP00000360126.3:n.139+45_139+91del
ENST00000371100.9:c.2069-3702_2069-3656del MANE Plus Clinical ENSP00000360141.3:n.2069-3702_2069-3656del
ENST00000419558.6:c.*43-3702_*43-3656del ENSP00000416234.2:n.*43-3702_*43-3656del
ENST00000423897.6:c.2069-3702_2069-3656del ENSP00000412356.2:n.2069-3702_2069-3656del
ENST00000453292.6:c.*43-3702_*43-3656del ENSP00000392000.2:n.*43-3702_*43-3656del
ENST00000461152.6:c.909+1121_909+1167del ENSP00000499274.1:n.909+1121_909+1167del
ENST00000481768.6:c.2227-3702_2227-3656del ENSP00000499644.2:n.2227-3702_2227-3656del
ENST00000490374.6:n.223-3702_223-3656del
ENST00000657090.1:c.-38-3702_-38-3656del ENSP00000499380.1:n.-38-3702_-38-3656del
ENST00000663479.1:c.-38-3702_-38-3656del ENSP00000499353.1:n.-38-3702_-38-3656del
ENST00000667293.1:c.11-3702_11-3656del ENSP00000499293.1:n.11-3702_11-3656del
ENST00000676826.1:c.2069-3702_2069-3656del ENSP00000504675.1:n.2069-3702_2069-3656del
ENST00000265620.11:c.139+45_139+91del ENSP00000265620.7:n.139+45_139+91del
ENST00000306090.11:c.93+91_93+137del ENSP00000304472.11:n.93+91_93+137del
ENST00000313949.11:c.*43-3702_*43-3656del ENSP00000323571.7:n.*43-3702_*43-3656del
ENST00000338783.6:c.106+45_106+91del ENSP00000345971.6:n.106+45_106+91del
ENST00000349036.7:c.188-3702_188-3656del ENSP00000265621.4:n.188-3702_188-3656del
ENST00000354359.11:c.139+45_139+91del ENSP00000346328.7:n.139+45_139+91del
ENST00000371075.7:c.*43-3702_*43-3656del MANE Plus Clinical ENSP00000360115.3:n.*43-3702_*43-3656del
ENST00000371081.5:c.139+45_139+91del ENSP00000360122.1:n.139+45_139+91del
ENST00000371085.7:c.139+45_139+91del ENSP00000360126.3:n.139+45_139+91del
ENST00000371095.7:c.139+45_139+91del ENSP00000360136.3:n.139+45_139+91del
ENST00000371098.6:c.*43-3702_*43-3656del ENSP00000360139.2:n.*43-3702_*43-3656del
ENST00000371100.8:c.2069-3702_2069-3656del ENSP00000360141.3:n.2069-3702_2069-3656del
ENST00000371102.8:c.2069-3702_2069-3656del ENSP00000360143.4:n.2069-3702_2069-3656del
ENST00000419558.5:c.384-3702_384-3656del
ENST00000423897.5:c.157-3702_157-3656del
ENST00000450130.5:c.228-3702_228-3656del
ENST00000453292.5:c.544-3702_544-3656del ENSP00000392000.1:n.544-3702_544-3656del
ENST00000461152.5:n.147+1121_147+1167del
ENST00000462499.5:n.259-3702_259-3656del
ENST00000464624.6:n.2355+45_2355+91del
ENST00000464788.5:n.67+2697_67+2743del
ENST00000464960.5:n.406+3092_406+3138del
ENST00000467227.5:n.123-3702_123-3656del
ENST00000467321.5:n.154+2864_154+2910del
ENST00000468895.5:n.50+3002_50+3048del
ENST00000469431.5:n.256+2504_256+2550del
ENST00000470512.5:n.210+2557_210+2603del
ENST00000472183.5:n.392-3702_392-3656del
ENST00000477931.5:n.254+2557_254+2603del
ENST00000478585.5:n.194+2557_194+2603del
ENST00000480232.5:n.155+2361_155+2407del
ENST00000480975.5:n.183+2557_183+2603del
ENST00000481039.5:n.56+3006_56+3052del
ENST00000481768.5:n.1324-3702_1324-3656del
ENST00000482112.5:n.259-3702_259-3656del
ENST00000484504.5:n.127+2557_127+2603del
ENST00000485673.5:n.426+2361_426+2407del
ENST00000488546.5:n.40+3092_40+3138del
ENST00000490374.5:n.255-3702_255-3656del
ENST00000491348.5:n.534-3702_534-3656del
ENST00000493744.5:n.233-3702_233-3656del
ENST00000604005.5:c.-39+2578_-39+2624del ENSP00000474219.1:n.-39+2578_-39+2624del
NM_000516.4:c.139+45_139+91del NP_000507.1:n.139+45_139+91del
NM_000516.5:c.139+45_139+91del NP_000507.1:n.139+45_139+91del
NM_001077488.2:c.139+45_139+91del NP_001070956.1:n.139+45_139+91del
NM_001077488.3:c.139+45_139+91del NP_001070956.1:n.139+45_139+91del
NM_001077489.2:c.139+45_139+91del NP_001070957.1:n.139+45_139+91del
NM_001077489.3:c.139+45_139+91del NP_001070957.1:n.139+45_139+91del
NM_001077490.1:c.*1-3702_*1-3656del NP_001070958.1:n.*1-3702_*1-3656del
NM_001077490.2:c.*1-3702_*1-3656del NP_001070958.1:n.*1-3702_*1-3656del
NM_001309840.1:c.-39+2557_-39+2603del NP_001296769.1:n.-39+2557_-39+2603del
NM_001309842.1:c.139+45_139+91del NP_001296771.1:n.139+45_139+91del
NM_001309861.1:c.-38-3702_-38-3656del NP_001296790.1:n.-38-3702_-38-3656del
NM_001309883.1:c.*159-3702_*159-3656del NP_001296812.1:n.*159-3702_*159-3656del
NM_016592.2:c.*43-3702_*43-3656del NP_057676.1:n.*43-3702_*43-3656del
NM_016592.3:c.*43-3702_*43-3656del NP_057676.1:n.*43-3702_*43-3656del
NM_080425.2:c.2069-3702_2069-3656del NP_536350.2:n.2069-3702_2069-3656del
NM_080425.3:c.2069-3702_2069-3656del NP_536350.2:n.2069-3702_2069-3656del
NM_080426.2:c.139+45_139+91del NP_536351.1:n.139+45_139+91del
NM_080426.3:c.139+45_139+91del NP_536351.1:n.139+45_139+91del
NR_003259.1:c.-4294967067+2557_-4294967067+2603del
NR_132273.1:n.406+3092_406+3138del
XM_017027812.2:c.2069-3702_2069-3656del XP_016883301.1:n.2069-3702_2069-3656del
XM_017027813.2:c.2069-3702_2069-3656del XP_016883302.1:n.2069-3702_2069-3656del
XM_017027814.2:c.2069-3702_2069-3656del XP_016883303.1:n.2069-3702_2069-3656del
XM_017027815.1:c.44-3702_44-3656del XP_016883304.1:n.44-3702_44-3656del
XM_017027816.1:c.-166+45_-166+91del XP_016883305.1:n.-166+45_-166+91del
XM_017027817.1:c.-39+2557_-39+2603del XP_016883306.1:n.-39+2557_-39+2603del
XM_017027819.1:c.-39+2578_-39+2624del XP_016883308.1:n.-39+2578_-39+2624del
XM_017027821.1:c.*43-3702_*43-3656del XP_016883310.1:n.*43-3702_*43-3656del
XM_017027822.1:c.*43-3702_*43-3656del XP_016883311.1:n.*43-3702_*43-3656del
XM_024451872.1:c.44-3702_44-3656del XP_024307640.1:n.44-3702_44-3656del
XM_024451875.1:c.-39+2578_-39+2624del XP_024307643.1:n.-39+2578_-39+2624del
XR_002958471.1:n.764+45_764+91del
NM_000516.6:c.139+45_139+91del NP_000507.1:n.139+45_139+91del
NM_001077488.4:c.139+45_139+91del NP_001070956.1:n.139+45_139+91del
NM_001077489.4:c.139+45_139+91del NP_001070957.1:n.139+45_139+91del
NM_001309840.2:c.-39+2557_-39+2603del NP_001296769.1:n.-39+2557_-39+2603del
NM_001309842.2:c.139+45_139+91del NP_001296771.1:n.139+45_139+91del
NM_001309861.2:c.-38-3702_-38-3656del NP_001296790.1:n.-38-3702_-38-3656del
NM_016592.4:c.*43-3702_*43-3656del NP_057676.1:n.*43-3702_*43-3656del
NM_080426.4:c.139+45_139+91del NP_536351.1:n.139+45_139+91del
NM_000516.7:c.139+45_139+91del MANE Select NP_000507.1:n.139+45_139+91del
NM_001077488.5:c.139+45_139+91del NP_001070956.1:n.139+45_139+91del
NM_001077490.3:c.*1-3702_*1-3656del NP_001070958.1:n.*1-3702_*1-3656del
NM_016592.5:c.*43-3702_*43-3656del MANE Plus Clinical NP_057676.1:n.*43-3702_*43-3656del
NM_080425.4:c.2069-3702_2069-3656del MANE Plus Clinical NP_536350.2:n.2069-3702_2069-3656del
Search 100 bp 5'
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