Canonical Allele Identifier: CA645293919
Gene: GNAS HGNC NCBI

Linked Data

ClinVar Variation Id: 426629
ClinVar RCV Id: RCV000490003
dbSNP Id: rs1085307719
MyVariant Identifiers: chr20:g.57466778_57466783del (hg19) chr20:g.58891723_58891728del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891723_58891728del , CM000682.2:g.58891723_58891728del GRCh38
NC_000020.10:g.57466778_57466783del , CM000682.1:g.57466778_57466783del GRCh37
NC_000020.9:g.56900173_56900178del NCBI36
NG_016194.1:g.56984_56989del
NG_016194.2:g.56984_56989del

Transcript Alleles

HGVS Amino-acid change
ENST00000349036.9:c.2069-3889_2069-3884del ENSP00000265621.6:n.2069-3889_2069-3884de...
ENST00000419558.7:c.*43-3889_*43-3884del ENSP00000416234.2:n.*43-3889_*43-3884del
ENST00000423897.7:c.2069-3889_2069-3884del ENSP00000412356.2:n.2069-3889_2069-3884de...
ENST00000453292.7:c.781-3889_781-3884del ENSP00000392000.2:n.781-3889_781-3884del
ENST00000462499.6:c.-38-3889_-38-3884del ENSP00000499758.2:n.-38-3889_-38-3884del
ENST00000464624.7:c.2160-3889_2160-3884del ENSP00000499607.2:n.2160-3889_2160-3884de...
ENST00000464788.6:c.-39+2510_-39+2515del ENSP00000499239.2:n.-39+2510_-39+2515del
ENST00000467227.6:c.-38-3889_-38-3884del ENSP00000499681.2:n.-38-3889_-38-3884del
ENST00000467321.6:c.-39+2677_-39+2682del ENSP00000499523.2:n.-39+2677_-39+2682del
ENST00000468895.6:c.-4_2del
ENST00000469431.6:c.-39+2317_-39+2322del ENSP00000499654.2:n.-39+2317_-39+2322del
ENST00000470512.6:c.-39+2370_-39+2375del ENSP00000499552.2:n.-39+2370_-39+2375del
ENST00000472183.6:c.-38-3889_-38-3884del ENSP00000499673.2:n.-38-3889_-38-3884del
ENST00000478585.6:c.-39+2370_-39+2375del ENSP00000499762.2:n.-39+2370_-39+2375del
ENST00000480232.6:c.-39+2174_-39+2179del ENSP00000499545.2:n.-39+2174_-39+2179del
ENST00000481039.6:c.-39+2815_-39+2820del ENSP00000499767.2:n.-39+2815_-39+2820del
ENST00000482112.6:c.-38-3889_-38-3884del ENSP00000499794.2:n.-38-3889_-38-3884del
ENST00000485673.6:c.-39+2174_-39+2179del ENSP00000499334.2:n.-39+2174_-39+2179del
ENST00000488546.6:c.-39+2905_-39+2910del ENSP00000499332.2:n.-39+2905_-39+2910del
ENST00000604005.6:c.-39+2391_-39+2396del ENSP00000474219.2:n.-39+2391_-39+2396del
ENST00000663479.2:c.-38-3889_-38-3884del ENSP00000499353.2:n.-38-3889_-38-3884del
ENST00000667293.2:c.-39+2819_-39+2824del ENSP00000499293.2:n.-39+2819_-39+2824del
ENST00000676826.2:c.2069-3889_2069-3884del ENSP00000504675.2:n.2069-3889_2069-3884de...
ENST00000683015.1:c.909+934_909+939del ENSP00000506815.1:n.909+934_909+939del
ENST00000306090.12:c.44-3889_44-3884del ENSP00000304472.12:n.44-3889_44-3884del
ENST00000349036.8:c.2069-3889_2069-3884del ENSP00000265621.5:n.2069-3889_2069-3884de...
ENST00000354359.12:c.-4_2del
ENST00000371085.8:c.-4_2del
ENST00000371100.9:c.2069-3889_2069-3884del MANE Plus Clinical ENSP00000360141.3:n.2069-3889_2069-3884de...
ENST00000419558.6:c.*43-3889_*43-3884del ENSP00000416234.2:n.*43-3889_*43-3884del
ENST00000423897.6:c.2069-3889_2069-3884del ENSP00000412356.2:n.2069-3889_2069-3884de...
ENST00000453292.6:c.*43-3889_*43-3884del ENSP00000392000.2:n.*43-3889_*43-3884del
ENST00000461152.6:c.909+934_909+939del ENSP00000499274.1:n.909+934_909+939del
ENST00000481768.6:c.2227-3889_2227-3884del ENSP00000499644.2:n.2227-3889_2227-3884de...
ENST00000490374.6:n.223-3889_223-3884del
ENST00000657090.1:c.-38-3889_-38-3884del ENSP00000499380.1:n.-38-3889_-38-3884del
ENST00000663479.1:c.-38-3889_-38-3884del ENSP00000499353.1:n.-38-3889_-38-3884del
ENST00000667293.1:c.11-3889_11-3884del ENSP00000499293.1:n.11-3889_11-3884del
ENST00000676826.1:c.2069-3889_2069-3884del ENSP00000504675.1:n.2069-3889_2069-3884de...
ENST00000265620.11:c.-4_2del
ENST00000313949.11:c.*43-3889_*43-3884del ENSP00000323571.7:n.*43-3889_*43-3884del
ENST00000349036.7:c.188-3889_188-3884del ENSP00000265621.4:n.188-3889_188-3884del
ENST00000354359.11:c.-4_2del
ENST00000371075.7:c.*43-3889_*43-3884del MANE Plus Clinical ENSP00000360115.3:n.*43-3889_*43-3884del
ENST00000371081.5:c.-4_2del
ENST00000371085.7:c.-4_2del
ENST00000371095.7:c.-4_2del
ENST00000371098.6:c.*43-3889_*43-3884del ENSP00000360139.2:n.*43-3889_*43-3884del
ENST00000371100.8:c.2069-3889_2069-3884del ENSP00000360141.3:n.2069-3889_2069-3884de...
ENST00000371102.8:c.2069-3889_2069-3884del ENSP00000360143.4:n.2069-3889_2069-3884de...
ENST00000419558.5:c.384-3889_384-3884del
ENST00000423897.5:c.157-3889_157-3884del
ENST00000450130.5:c.228-3889_228-3884del
ENST00000453292.5:c.544-3889_544-3884del ENSP00000392000.1:n.544-3889_544-3884del
ENST00000461152.5:n.147+934_147+939del
ENST00000462499.5:n.259-3889_259-3884del
ENST00000464624.6:n.2213_2218del
ENST00000464788.5:n.67+2510_67+2515del
ENST00000464960.5:n.406+2905_406+2910del
ENST00000467227.5:n.123-3889_123-3884del
ENST00000467321.5:n.154+2677_154+2682del
ENST00000468895.5:n.50+2815_50+2820del
ENST00000469431.5:n.256+2317_256+2322del
ENST00000470512.5:n.210+2370_210+2375del
ENST00000472183.5:n.392-3889_392-3884del
ENST00000477931.5:n.254+2370_254+2375del
ENST00000478585.5:n.194+2370_194+2375del
ENST00000480232.5:n.155+2174_155+2179del
ENST00000480975.5:n.183+2370_183+2375del
ENST00000481039.5:n.56+2819_56+2824del
ENST00000481768.5:n.1324-3889_1324-3884del
ENST00000482112.5:n.259-3889_259-3884del
ENST00000484504.5:n.127+2370_127+2375del
ENST00000485673.5:n.426+2174_426+2179del
ENST00000488546.5:n.40+2905_40+2910del
ENST00000490374.5:n.255-3889_255-3884del
ENST00000491348.5:n.534-3889_534-3884del
ENST00000493744.5:n.233-3889_233-3884del
ENST00000604005.5:c.-39+2391_-39+2396del ENSP00000474219.1:n.-39+2391_-39+2396del
NM_000516.4:c.-4_2del
NM_000516.5:c.-4_2del
NM_001077488.2:c.-4_2del
NM_001077488.3:c.-4_2del
NM_001077489.2:c.-4_2del
NM_001077489.3:c.-4_2del
NM_001077490.1:c.*1-3889_*1-3884del NP_001070958.1:n.*1-3889_*1-3884del
NM_001077490.2:c.*1-3889_*1-3884del NP_001070958.1:n.*1-3889_*1-3884del
NM_001309840.1:c.-39+2370_-39+2375del NP_001296769.1:n.-39+2370_-39+2375del
NM_001309842.1:c.-4_2del
NM_001309861.1:c.-38-3889_-38-3884del NP_001296790.1:n.-38-3889_-38-3884del
NM_001309883.1:c.*159-3889_*159-3884del NP_001296812.1:n.*159-3889_*159-3884del
NM_016592.2:c.*43-3889_*43-3884del NP_057676.1:n.*43-3889_*43-3884del
NM_016592.3:c.*43-3889_*43-3884del NP_057676.1:n.*43-3889_*43-3884del
NM_080425.2:c.2069-3889_2069-3884del NP_536350.2:n.2069-3889_2069-3884del
NM_080425.3:c.2069-3889_2069-3884del NP_536350.2:n.2069-3889_2069-3884del
NM_080426.2:c.-4_2del
NM_080426.3:c.-4_2del
NR_003259.1:c.-4294967067+2370_-4294967067+2375del
NR_132273.1:n.406+2905_406+2910del
XM_017027812.2:c.2069-3889_2069-3884del XP_016883301.1:n.2069-3889_2069-3884del
XM_017027813.2:c.2069-3889_2069-3884del XP_016883302.1:n.2069-3889_2069-3884del
XM_017027814.2:c.2069-3889_2069-3884del XP_016883303.1:n.2069-3889_2069-3884del
XM_017027815.1:c.44-3889_44-3884del XP_016883304.1:n.44-3889_44-3884del
XM_017027816.1:c.-308_-303del XP_016883305.1:n.-308_-303del
XM_017027817.1:c.-39+2370_-39+2375del XP_016883306.1:n.-39+2370_-39+2375del
XM_017027819.1:c.-39+2391_-39+2396del XP_016883308.1:n.-39+2391_-39+2396del
XM_017027821.1:c.*43-3889_*43-3884del XP_016883310.1:n.*43-3889_*43-3884del
XM_017027822.1:c.*43-3889_*43-3884del XP_016883311.1:n.*43-3889_*43-3884del
XM_024451872.1:c.44-3889_44-3884del XP_024307640.1:n.44-3889_44-3884del
XM_024451875.1:c.-39+2391_-39+2396del XP_024307643.1:n.-39+2391_-39+2396del
XR_002958471.1:n.622_627del
NM_000516.6:c.-4_2del
NM_001077488.4:c.-4_2del
NM_001077489.4:c.-4_2del
NM_001309840.2:c.-39+2370_-39+2375del NP_001296769.1:n.-39+2370_-39+2375del
NM_001309842.2:c.-4_2del
NM_001309861.2:c.-38-3889_-38-3884del NP_001296790.1:n.-38-3889_-38-3884del
NM_016592.4:c.*43-3889_*43-3884del NP_057676.1:n.*43-3889_*43-3884del
NM_080426.4:c.-4_2del
NM_000516.7:c.-4_2del
NM_001077488.5:c.-4_2del
NM_001077490.3:c.*1-3889_*1-3884del NP_001070958.1:n.*1-3889_*1-3884del
NM_016592.5:c.*43-3889_*43-3884del MANE Plus Clinical NP_057676.1:n.*43-3889_*43-3884del
NM_080425.4:c.2069-3889_2069-3884del MANE Plus Clinical NP_536350.2:n.2069-3889_2069-3884del
Search 100 bp 5'
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