Canonical Allele Identifier: CA2577436610
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58891673-CCCGCGCCCGCCGCCGCCGCAGCCCGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891682_58891707del , CM000682.2:g.58891682_58891707del GRCh38
NC_000020.10:g.57466737_57466762del , CM000682.1:g.57466737_57466762del GRCh37
NC_000020.9:g.56900132_56900157del NCBI36
NG_016194.1:g.56943_56968del
NG_016194.2:g.56943_56968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3930_2069-3905del ENSP00000265621.6:n.2069-3930_2069-3905del
ENST00000419558.7:c.*43-3930_*43-3905del ENSP00000416234.2:n.*43-3930_*43-3905del
ENST00000423897.7:c.2069-3930_2069-3905del ENSP00000412356.2:n.2069-3930_2069-3905del
ENST00000453292.7:c.781-3930_781-3905del ENSP00000392000.2:n.781-3930_781-3905del
ENST00000462499.6:c.-38-3930_-38-3905del ENSP00000499758.2:n.-38-3930_-38-3905del
ENST00000464624.7:c.2160-3930_2160-3905del ENSP00000499607.2:n.2160-3930_2160-3905del
ENST00000464788.6:c.-39+2469_-39+2494del ENSP00000499239.2:n.-39+2469_-39+2494del
ENST00000467227.6:c.-38-3930_-38-3905del ENSP00000499681.2:n.-38-3930_-38-3905del
ENST00000467321.6:c.-39+2636_-39+2661del ENSP00000499523.2:n.-39+2636_-39+2661del
ENST00000469431.6:c.-39+2276_-39+2301del ENSP00000499654.2:n.-39+2276_-39+2301del
ENST00000470512.6:c.-39+2329_-39+2354del ENSP00000499552.2:n.-39+2329_-39+2354del
ENST00000472183.6:c.-38-3930_-38-3905del ENSP00000499673.2:n.-38-3930_-38-3905del
ENST00000478585.6:c.-39+2329_-39+2354del ENSP00000499762.2:n.-39+2329_-39+2354del
ENST00000480232.6:c.-39+2133_-39+2158del ENSP00000499545.2:n.-39+2133_-39+2158del
ENST00000481039.6:c.-39+2774_-39+2799del ENSP00000499767.2:n.-39+2774_-39+2799del
ENST00000482112.6:c.-38-3930_-38-3905del ENSP00000499794.2:n.-38-3930_-38-3905del
ENST00000485673.6:c.-39+2133_-39+2158del ENSP00000499334.2:n.-39+2133_-39+2158del
ENST00000488546.6:c.-39+2864_-39+2889del ENSP00000499332.2:n.-39+2864_-39+2889del
ENST00000604005.6:c.-39+2350_-39+2375del ENSP00000474219.2:n.-39+2350_-39+2375del
ENST00000663479.2:c.-38-3930_-38-3905del ENSP00000499353.2:n.-38-3930_-38-3905del
ENST00000667293.2:c.-39+2778_-39+2803del ENSP00000499293.2:n.-39+2778_-39+2803del
ENST00000676826.2:c.2069-3930_2069-3905del ENSP00000504675.2:n.2069-3930_2069-3905del
ENST00000683015.1:c.909+893_909+918del ENSP00000506815.1:n.909+893_909+918del
ENST00000306090.12:c.44-3930_44-3905del ENSP00000304472.12:n.44-3930_44-3905del
ENST00000349036.8:c.2069-3930_2069-3905del ENSP00000265621.5:n.2069-3930_2069-3905del
ENST00000354359.12:c.-45_-20del ENSP00000346328.7:n.-45_-20del
ENST00000371085.8:c.-45_-20del MANE Select ENSP00000360126.3:n.-45_-20del
ENST00000371100.9:c.2069-3930_2069-3905del MANE Plus Clinical ENSP00000360141.3:n.2069-3930_2069-3905del
ENST00000419558.6:c.*43-3930_*43-3905del ENSP00000416234.2:n.*43-3930_*43-3905del
ENST00000423897.6:c.2069-3930_2069-3905del ENSP00000412356.2:n.2069-3930_2069-3905del
ENST00000453292.6:c.*43-3930_*43-3905del ENSP00000392000.2:n.*43-3930_*43-3905del
ENST00000461152.6:c.909+893_909+918del ENSP00000499274.1:n.909+893_909+918del
ENST00000481768.6:c.2227-3930_2227-3905del ENSP00000499644.2:n.2227-3930_2227-3905del
ENST00000490374.6:n.223-3930_223-3905del
ENST00000657090.1:c.-38-3930_-38-3905del ENSP00000499380.1:n.-38-3930_-38-3905del
ENST00000663479.1:c.-38-3930_-38-3905del ENSP00000499353.1:n.-38-3930_-38-3905del
ENST00000667293.1:c.11-3930_11-3905del ENSP00000499293.1:n.11-3930_11-3905del
ENST00000676826.1:c.2069-3930_2069-3905del ENSP00000504675.1:n.2069-3930_2069-3905del
ENST00000265620.11:c.-45_-20del ENSP00000265620.7:n.-45_-20del
ENST00000313949.11:c.*43-3930_*43-3905del ENSP00000323571.7:n.*43-3930_*43-3905del
ENST00000349036.7:c.188-3930_188-3905del ENSP00000265621.4:n.188-3930_188-3905del
ENST00000354359.11:c.-45_-20del ENSP00000346328.7:n.-45_-20del
ENST00000371075.7:c.*43-3930_*43-3905del MANE Plus Clinical ENSP00000360115.3:n.*43-3930_*43-3905del
ENST00000371085.7:c.-45_-20del ENSP00000360126.3:n.-45_-20del
ENST00000371095.7:c.-45_-20del ENSP00000360136.3:n.-45_-20del
ENST00000371098.6:c.*43-3930_*43-3905del ENSP00000360139.2:n.*43-3930_*43-3905del
ENST00000371100.8:c.2069-3930_2069-3905del ENSP00000360141.3:n.2069-3930_2069-3905del
ENST00000371102.8:c.2069-3930_2069-3905del ENSP00000360143.4:n.2069-3930_2069-3905del
ENST00000419558.5:c.384-3930_384-3905del
ENST00000423897.5:c.157-3930_157-3905del
ENST00000450130.5:c.228-3930_228-3905del
ENST00000453292.5:c.544-3930_544-3905del ENSP00000392000.1:n.544-3930_544-3905del
ENST00000461152.5:n.147+893_147+918del
ENST00000462499.5:n.259-3930_259-3905del
ENST00000464624.6:n.2172_2197del
ENST00000464788.5:n.67+2469_67+2494del
ENST00000464960.5:n.406+2864_406+2889del
ENST00000467227.5:n.123-3930_123-3905del
ENST00000467321.5:n.154+2636_154+2661del
ENST00000468895.5:n.50+2774_50+2799del
ENST00000469431.5:n.256+2276_256+2301del
ENST00000470512.5:n.210+2329_210+2354del
ENST00000472183.5:n.392-3930_392-3905del
ENST00000477931.5:n.254+2329_254+2354del
ENST00000478585.5:n.194+2329_194+2354del
ENST00000480232.5:n.155+2133_155+2158del
ENST00000480975.5:n.183+2329_183+2354del
ENST00000481039.5:n.56+2778_56+2803del
ENST00000481768.5:n.1324-3930_1324-3905del
ENST00000482112.5:n.259-3930_259-3905del
ENST00000484504.5:n.127+2329_127+2354del
ENST00000485673.5:n.426+2133_426+2158del
ENST00000488546.5:n.40+2864_40+2889del
ENST00000490374.5:n.255-3930_255-3905del
ENST00000491348.5:n.534-3930_534-3905del
ENST00000493744.5:n.233-3930_233-3905del
ENST00000604005.5:c.-39+2350_-39+2375del ENSP00000474219.1:n.-39+2350_-39+2375del
NM_000516.4:c.-45_-20del NP_000507.1:n.-45_-20del
NM_000516.5:c.-45_-20del NP_000507.1:n.-45_-20del
NM_001077488.2:c.-45_-20del NP_001070956.1:n.-45_-20del
NM_001077488.3:c.-45_-20del NP_001070956.1:n.-45_-20del
NM_001077489.2:c.-45_-20del NP_001070957.1:n.-45_-20del
NM_001077489.3:c.-45_-20del NP_001070957.1:n.-45_-20del
NM_001077490.1:c.*1-3930_*1-3905del NP_001070958.1:n.*1-3930_*1-3905del
NM_001077490.2:c.*1-3930_*1-3905del NP_001070958.1:n.*1-3930_*1-3905del
NM_001309840.1:c.-39+2329_-39+2354del NP_001296769.1:n.-39+2329_-39+2354del
NM_001309842.1:c.-45_-20del NP_001296771.1:n.-45_-20del
NM_001309861.1:c.-38-3930_-38-3905del NP_001296790.1:n.-38-3930_-38-3905del
NM_001309883.1:c.*159-3930_*159-3905del NP_001296812.1:n.*159-3930_*159-3905del
NM_016592.2:c.*43-3930_*43-3905del NP_057676.1:n.*43-3930_*43-3905del
NM_016592.3:c.*43-3930_*43-3905del NP_057676.1:n.*43-3930_*43-3905del
NM_080425.2:c.2069-3930_2069-3905del NP_536350.2:n.2069-3930_2069-3905del
NM_080425.3:c.2069-3930_2069-3905del NP_536350.2:n.2069-3930_2069-3905del
NM_080426.2:c.-45_-20del NP_536351.1:n.-45_-20del
NM_080426.3:c.-45_-20del NP_536351.1:n.-45_-20del
NR_003259.1:c.-4294967067+2329_-4294967067+2354del
NR_132273.1:n.406+2864_406+2889del
XM_017027812.2:c.2069-3930_2069-3905del XP_016883301.1:n.2069-3930_2069-3905del
XM_017027813.2:c.2069-3930_2069-3905del XP_016883302.1:n.2069-3930_2069-3905del
XM_017027814.2:c.2069-3930_2069-3905del XP_016883303.1:n.2069-3930_2069-3905del
XM_017027815.1:c.44-3930_44-3905del XP_016883304.1:n.44-3930_44-3905del
XM_017027816.1:c.-349_-324del XP_016883305.1:n.-349_-324del
XM_017027817.1:c.-39+2329_-39+2354del XP_016883306.1:n.-39+2329_-39+2354del
XM_017027819.1:c.-39+2350_-39+2375del XP_016883308.1:n.-39+2350_-39+2375del
XM_017027821.1:c.*43-3930_*43-3905del XP_016883310.1:n.*43-3930_*43-3905del
XM_017027822.1:c.*43-3930_*43-3905del XP_016883311.1:n.*43-3930_*43-3905del
XM_024451872.1:c.44-3930_44-3905del XP_024307640.1:n.44-3930_44-3905del
XM_024451875.1:c.-39+2350_-39+2375del XP_024307643.1:n.-39+2350_-39+2375del
XR_002958471.1:n.581_606del
NM_000516.6:c.-45_-20del NP_000507.1:n.-45_-20del
NM_001077488.4:c.-45_-20del NP_001070956.1:n.-45_-20del
NM_001077489.4:c.-45_-20del NP_001070957.1:n.-45_-20del
NM_001309840.2:c.-39+2329_-39+2354del NP_001296769.1:n.-39+2329_-39+2354del
NM_001309842.2:c.-45_-20del NP_001296771.1:n.-45_-20del
NM_001309861.2:c.-38-3930_-38-3905del NP_001296790.1:n.-38-3930_-38-3905del
NM_016592.4:c.*43-3930_*43-3905del NP_057676.1:n.*43-3930_*43-3905del
NM_080426.4:c.-45_-20del NP_536351.1:n.-45_-20del
NM_000516.7:c.-45_-20del MANE Select NP_000507.1:n.-45_-20del
NM_001077488.5:c.-45_-20del NP_001070956.1:n.-45_-20del
NM_001077490.3:c.*1-3930_*1-3905del NP_001070958.1:n.*1-3930_*1-3905del
NM_016592.5:c.*43-3930_*43-3905del MANE Plus Clinical NP_057676.1:n.*43-3930_*43-3905del
NM_080425.4:c.2069-3930_2069-3905del MANE Plus Clinical NP_536350.2:n.2069-3930_2069-3905del
Search 100 bp 5'
Search 100 bp 3'