Canonical Allele Identifier: CA2577436506
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58891552-TCCGC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891553_58891556del , CM000682.2:g.58891553_58891556del GRCh38
NC_000020.10:g.57466608_57466611del , CM000682.1:g.57466608_57466611del GRCh37
NC_000020.9:g.56900003_56900006del NCBI36
NG_016194.1:g.56814_56817del
NG_016194.2:g.56814_56817del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-4059_2069-4056del ENSP00000265621.6:n.2069-4059_2069-4056del
ENST00000419558.7:c.*43-4059_*43-4056del ENSP00000416234.2:n.*43-4059_*43-4056del
ENST00000423897.7:c.2069-4059_2069-4056del ENSP00000412356.2:n.2069-4059_2069-4056del
ENST00000453292.7:c.781-4059_781-4056del ENSP00000392000.2:n.781-4059_781-4056del
ENST00000462499.6:c.-38-4059_-38-4056del ENSP00000499758.2:n.-38-4059_-38-4056del
ENST00000464624.7:c.2160-4059_2160-4056del ENSP00000499607.2:n.2160-4059_2160-4056del
ENST00000464788.6:c.-39+2340_-39+2343del ENSP00000499239.2:n.-39+2340_-39+2343del
ENST00000467227.6:c.-38-4059_-38-4056del ENSP00000499681.2:n.-38-4059_-38-4056del
ENST00000467321.6:c.-39+2507_-39+2510del ENSP00000499523.2:n.-39+2507_-39+2510del
ENST00000469431.6:c.-39+2147_-39+2150del ENSP00000499654.2:n.-39+2147_-39+2150del
ENST00000470512.6:c.-39+2200_-39+2203del ENSP00000499552.2:n.-39+2200_-39+2203del
ENST00000472183.6:c.-38-4059_-38-4056del ENSP00000499673.2:n.-38-4059_-38-4056del
ENST00000478585.6:c.-39+2200_-39+2203del ENSP00000499762.2:n.-39+2200_-39+2203del
ENST00000480232.6:c.-39+2004_-39+2007del ENSP00000499545.2:n.-39+2004_-39+2007del
ENST00000481039.6:c.-39+2645_-39+2648del ENSP00000499767.2:n.-39+2645_-39+2648del
ENST00000482112.6:c.-38-4059_-38-4056del ENSP00000499794.2:n.-38-4059_-38-4056del
ENST00000485673.6:c.-39+2004_-39+2007del ENSP00000499334.2:n.-39+2004_-39+2007del
ENST00000488546.6:c.-39+2735_-39+2738del ENSP00000499332.2:n.-39+2735_-39+2738del
ENST00000604005.6:c.-39+2221_-39+2224del ENSP00000474219.2:n.-39+2221_-39+2224del
ENST00000663479.2:c.-38-4059_-38-4056del ENSP00000499353.2:n.-38-4059_-38-4056del
ENST00000667293.2:c.-39+2649_-39+2652del ENSP00000499293.2:n.-39+2649_-39+2652del
ENST00000676826.2:c.2069-4059_2069-4056del ENSP00000504675.2:n.2069-4059_2069-4056del
ENST00000683015.1:c.909+764_909+767del ENSP00000506815.1:n.909+764_909+767del
ENST00000306090.12:c.44-4059_44-4056del ENSP00000304472.12:n.44-4059_44-4056del
ENST00000349036.8:c.2069-4059_2069-4056del ENSP00000265621.5:n.2069-4059_2069-4056del
ENST00000354359.12:c.-174_-171del ENSP00000346328.7:n.-174_-171del
ENST00000371085.8:c.-174_-171del MANE Select ENSP00000360126.3:n.-174_-171del
ENST00000371100.9:c.2069-4059_2069-4056del MANE Plus Clinical ENSP00000360141.3:n.2069-4059_2069-4056del
ENST00000419558.6:c.*43-4059_*43-4056del ENSP00000416234.2:n.*43-4059_*43-4056del
ENST00000423897.6:c.2069-4059_2069-4056del ENSP00000412356.2:n.2069-4059_2069-4056del
ENST00000453292.6:c.*43-4059_*43-4056del ENSP00000392000.2:n.*43-4059_*43-4056del
ENST00000461152.6:c.909+764_909+767del ENSP00000499274.1:n.909+764_909+767del
ENST00000481768.6:c.2227-4059_2227-4056del ENSP00000499644.2:n.2227-4059_2227-4056del
ENST00000490374.6:n.223-4059_223-4056del
ENST00000657090.1:c.-38-4059_-38-4056del ENSP00000499380.1:n.-38-4059_-38-4056del
ENST00000663479.1:c.-38-4059_-38-4056del ENSP00000499353.1:n.-38-4059_-38-4056del
ENST00000667293.1:c.11-4059_11-4056del ENSP00000499293.1:n.11-4059_11-4056del
ENST00000676826.1:c.2069-4059_2069-4056del ENSP00000504675.1:n.2069-4059_2069-4056del
ENST00000265620.11:c.-174_-171del ENSP00000265620.7:n.-174_-171del
ENST00000313949.11:c.*43-4059_*43-4056del ENSP00000323571.7:n.*43-4059_*43-4056del
ENST00000349036.7:c.188-4059_188-4056del ENSP00000265621.4:n.188-4059_188-4056del
ENST00000354359.11:c.-174_-171del ENSP00000346328.7:n.-174_-171del
ENST00000371075.7:c.*43-4059_*43-4056del MANE Plus Clinical ENSP00000360115.3:n.*43-4059_*43-4056del
ENST00000371085.7:c.-174_-171del ENSP00000360126.3:n.-174_-171del
ENST00000371095.7:c.-174_-171del ENSP00000360136.3:n.-174_-171del
ENST00000371098.6:c.*43-4059_*43-4056del ENSP00000360139.2:n.*43-4059_*43-4056del
ENST00000371100.8:c.2069-4059_2069-4056del ENSP00000360141.3:n.2069-4059_2069-4056del
ENST00000371102.8:c.2069-4059_2069-4056del ENSP00000360143.4:n.2069-4059_2069-4056del
ENST00000419558.5:c.384-4059_384-4056del
ENST00000423897.5:c.157-4059_157-4056del
ENST00000450130.5:c.228-4059_228-4056del
ENST00000453292.5:c.544-4059_544-4056del ENSP00000392000.1:n.544-4059_544-4056del
ENST00000461152.5:n.147+764_147+767del
ENST00000462499.5:n.259-4059_259-4056del
ENST00000464624.6:n.2072-29_2072-26del
ENST00000464788.5:n.67+2340_67+2343del
ENST00000464960.5:n.406+2735_406+2738del
ENST00000467227.5:n.123-4059_123-4056del
ENST00000467321.5:n.154+2507_154+2510del
ENST00000468895.5:n.50+2645_50+2648del
ENST00000469431.5:n.256+2147_256+2150del
ENST00000470512.5:n.210+2200_210+2203del
ENST00000472183.5:n.392-4059_392-4056del
ENST00000477931.5:n.254+2200_254+2203del
ENST00000478585.5:n.194+2200_194+2203del
ENST00000480232.5:n.155+2004_155+2007del
ENST00000480975.5:n.183+2200_183+2203del
ENST00000481039.5:n.56+2649_56+2652del
ENST00000481768.5:n.1324-4059_1324-4056del
ENST00000482112.5:n.259-4059_259-4056del
ENST00000484504.5:n.127+2200_127+2203del
ENST00000485673.5:n.426+2004_426+2007del
ENST00000488546.5:n.40+2735_40+2738del
ENST00000490374.5:n.255-4059_255-4056del
ENST00000491348.5:n.534-4059_534-4056del
ENST00000493744.5:n.233-4059_233-4056del
ENST00000604005.5:c.-39+2221_-39+2224del ENSP00000474219.1:n.-39+2221_-39+2224del
NM_000516.4:c.-174_-171del NP_000507.1:n.-174_-171del
NM_000516.5:c.-174_-171del NP_000507.1:n.-174_-171del
NM_001077488.2:c.-174_-171del NP_001070956.1:n.-174_-171del
NM_001077488.3:c.-174_-171del NP_001070956.1:n.-174_-171del
NM_001077489.2:c.-174_-171del NP_001070957.1:n.-174_-171del
NM_001077489.3:c.-174_-171del NP_001070957.1:n.-174_-171del
NM_001077490.1:c.*1-4059_*1-4056del NP_001070958.1:n.*1-4059_*1-4056del
NM_001077490.2:c.*1-4059_*1-4056del NP_001070958.1:n.*1-4059_*1-4056del
NM_001309840.1:c.-39+2200_-39+2203del NP_001296769.1:n.-39+2200_-39+2203del
NM_001309842.1:c.-174_-171del NP_001296771.1:n.-174_-171del
NM_001309861.1:c.-38-4059_-38-4056del NP_001296790.1:n.-38-4059_-38-4056del
NM_001309883.1:c.*159-4059_*159-4056del NP_001296812.1:n.*159-4059_*159-4056del
NM_016592.2:c.*43-4059_*43-4056del NP_057676.1:n.*43-4059_*43-4056del
NM_016592.3:c.*43-4059_*43-4056del NP_057676.1:n.*43-4059_*43-4056del
NM_080425.2:c.2069-4059_2069-4056del NP_536350.2:n.2069-4059_2069-4056del
NM_080425.3:c.2069-4059_2069-4056del NP_536350.2:n.2069-4059_2069-4056del
NM_080426.2:c.-174_-171del NP_536351.1:n.-174_-171del
NM_080426.3:c.-174_-171del NP_536351.1:n.-174_-171del
NR_003259.1:c.-4294967067+2200_-4294967067+2203del
NR_132273.1:n.406+2735_406+2738del
XM_017027812.2:c.2069-4059_2069-4056del XP_016883301.1:n.2069-4059_2069-4056del
XM_017027813.2:c.2069-4059_2069-4056del XP_016883302.1:n.2069-4059_2069-4056del
XM_017027814.2:c.2069-4059_2069-4056del XP_016883303.1:n.2069-4059_2069-4056del
XM_017027815.1:c.44-4059_44-4056del XP_016883304.1:n.44-4059_44-4056del
XM_017027816.1:c.-478_-475del XP_016883305.1:n.-478_-475del
XM_017027817.1:c.-39+2200_-39+2203del XP_016883306.1:n.-39+2200_-39+2203del
XM_017027819.1:c.-39+2221_-39+2224del XP_016883308.1:n.-39+2221_-39+2224del
XM_017027821.1:c.*43-4059_*43-4056del XP_016883310.1:n.*43-4059_*43-4056del
XM_017027822.1:c.*43-4059_*43-4056del XP_016883311.1:n.*43-4059_*43-4056del
XM_024451872.1:c.44-4059_44-4056del XP_024307640.1:n.44-4059_44-4056del
XM_024451875.1:c.-39+2221_-39+2224del XP_024307643.1:n.-39+2221_-39+2224del
XR_002958471.1:n.452_455del
NM_000516.6:c.-174_-171del NP_000507.1:n.-174_-171del
NM_001077488.4:c.-174_-171del NP_001070956.1:n.-174_-171del
NM_001077489.4:c.-174_-171del NP_001070957.1:n.-174_-171del
NM_001309840.2:c.-39+2200_-39+2203del NP_001296769.1:n.-39+2200_-39+2203del
NM_001309842.2:c.-174_-171del NP_001296771.1:n.-174_-171del
NM_001309861.2:c.-38-4059_-38-4056del NP_001296790.1:n.-38-4059_-38-4056del
NM_016592.4:c.*43-4059_*43-4056del NP_057676.1:n.*43-4059_*43-4056del
NM_080426.4:c.-174_-171del NP_536351.1:n.-174_-171del
NM_000516.7:c.-174_-171del MANE Select NP_000507.1:n.-174_-171del
NM_001077488.5:c.-174_-171del NP_001070956.1:n.-174_-171del
NM_001077490.3:c.*1-4059_*1-4056del NP_001070958.1:n.*1-4059_*1-4056del
NM_016592.5:c.*43-4059_*43-4056del MANE Plus Clinical NP_057676.1:n.*43-4059_*43-4056del
NM_080425.4:c.2069-4059_2069-4056del MANE Plus Clinical NP_536350.2:n.2069-4059_2069-4056del
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