Canonical Allele Identifier: CA2577436598
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891661_58891662insTCCCGTCCC , CM000682.2:g.58891661_58891662insTCCCGTCCC GRCh38
NC_000020.10:g.57466716_57466717insTCCCGTCCC , CM000682.1:g.57466716_57466717insTCCCGTCCC GRCh37
NC_000020.9:g.56900111_56900112insTCCCGTCCC NCBI36
NG_016194.1:g.56922_56923insTCCCGTCCC
NG_016194.2:g.56922_56923insTCCCGTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3951_2069-3950insTCCCGTCCC ENSP00000265621.6:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000419558.7:c.*43-3951_*43-3950insTCCCGTCCC ENSP00000416234.2:n.*43-3951_*43-3950insTCCCGTCCC
ENST00000423897.7:c.2069-3951_2069-3950insTCCCGTCCC ENSP00000412356.2:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000453292.7:c.781-3951_781-3950insTCCCGTCCC ENSP00000392000.2:n.781-3951_781-3950insTCCCGTCCC
ENST00000462499.6:c.-38-3951_-38-3950insTCCCGTCCC ENSP00000499758.2:n.-38-3951_-38-3950insTCCCGTCCC
ENST00000464624.7:c.2160-3951_2160-3950insTCCCGTCCC ENSP00000499607.2:n.2160-3951_2160-3950insTCCCGTCCC
ENST00000464788.6:c.-39+2448_-39+2449insTCCCGTCCC ENSP00000499239.2:n.-39+2448_-39+2449insTCCCGTCCC
ENST00000467227.6:c.-38-3951_-38-3950insTCCCGTCCC ENSP00000499681.2:n.-38-3951_-38-3950insTCCCGTCCC
ENST00000467321.6:c.-39+2615_-39+2616insTCCCGTCCC ENSP00000499523.2:n.-39+2615_-39+2616insTCCCGTCCC
ENST00000469431.6:c.-39+2255_-39+2256insTCCCGTCCC ENSP00000499654.2:n.-39+2255_-39+2256insTCCCGTCCC
ENST00000470512.6:c.-39+2308_-39+2309insTCCCGTCCC ENSP00000499552.2:n.-39+2308_-39+2309insTCCCGTCCC
ENST00000472183.6:c.-38-3951_-38-3950insTCCCGTCCC ENSP00000499673.2:n.-38-3951_-38-3950insTCCCGTCCC
ENST00000478585.6:c.-39+2308_-39+2309insTCCCGTCCC ENSP00000499762.2:n.-39+2308_-39+2309insTCCCGTCCC
ENST00000480232.6:c.-39+2112_-39+2113insTCCCGTCCC ENSP00000499545.2:n.-39+2112_-39+2113insTCCCGTCCC
ENST00000481039.6:c.-39+2753_-39+2754insTCCCGTCCC ENSP00000499767.2:n.-39+2753_-39+2754insTCCCGTCCC
ENST00000482112.6:c.-38-3951_-38-3950insTCCCGTCCC ENSP00000499794.2:n.-38-3951_-38-3950insTCCCGTCCC
ENST00000485673.6:c.-39+2112_-39+2113insTCCCGTCCC ENSP00000499334.2:n.-39+2112_-39+2113insTCCCGTCCC
ENST00000488546.6:c.-39+2843_-39+2844insTCCCGTCCC ENSP00000499332.2:n.-39+2843_-39+2844insTCCCGTCCC
ENST00000604005.6:c.-39+2329_-39+2330insTCCCGTCCC ENSP00000474219.2:n.-39+2329_-39+2330insTCCCGTCCC
ENST00000663479.2:c.-38-3951_-38-3950insTCCCGTCCC ENSP00000499353.2:n.-38-3951_-38-3950insTCCCGTCCC
ENST00000667293.2:c.-39+2757_-39+2758insTCCCGTCCC ENSP00000499293.2:n.-39+2757_-39+2758insTCCCGTCCC
ENST00000676826.2:c.2069-3951_2069-3950insTCCCGTCCC ENSP00000504675.2:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000683015.1:c.909+872_909+873insTCCCGTCCC ENSP00000506815.1:n.909+872_909+873insTCCCGTCCC
ENST00000306090.12:c.44-3951_44-3950insTCCCGTCCC ENSP00000304472.12:n.44-3951_44-3950insTCCCGTCCC
ENST00000349036.8:c.2069-3951_2069-3950insTCCCGTCCC ENSP00000265621.5:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000354359.12:c.-66_-65insTCCCGTCCC ENSP00000346328.7:n.-66_-65insTCCCGTCCC
ENST00000371085.8:c.-66_-65insTCCCGTCCC MANE Select ENSP00000360126.3:n.-66_-65insTCCCGTCCC
ENST00000371100.9:c.2069-3951_2069-3950insTCCCGTCCC MANE Plus Clinical ENSP00000360141.3:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000419558.6:c.*43-3951_*43-3950insTCCCGTCCC ENSP00000416234.2:n.*43-3951_*43-3950insTCCCGTCCC
ENST00000423897.6:c.2069-3951_2069-3950insTCCCGTCCC ENSP00000412356.2:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000453292.6:c.*43-3951_*43-3950insTCCCGTCCC ENSP00000392000.2:n.*43-3951_*43-3950insTCCCGTCCC
ENST00000461152.6:c.909+872_909+873insTCCCGTCCC ENSP00000499274.1:n.909+872_909+873insTCCCGTCCC
ENST00000481768.6:c.2227-3951_2227-3950insTCCCGTCCC ENSP00000499644.2:n.2227-3951_2227-3950insTCCCGTCCC
ENST00000490374.6:n.223-3951_223-3950insTCCCGTCCC
ENST00000657090.1:c.-38-3951_-38-3950insTCCCGTCCC ENSP00000499380.1:n.-38-3951_-38-3950insTCCCGTCCC
ENST00000663479.1:c.-38-3951_-38-3950insTCCCGTCCC ENSP00000499353.1:n.-38-3951_-38-3950insTCCCGTCCC
ENST00000667293.1:c.11-3951_11-3950insTCCCGTCCC ENSP00000499293.1:n.11-3951_11-3950insTCCCGTCCC
ENST00000676826.1:c.2069-3951_2069-3950insTCCCGTCCC ENSP00000504675.1:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000265620.11:c.-66_-65insTCCCGTCCC ENSP00000265620.7:n.-66_-65insTCCCGTCCC
ENST00000313949.11:c.*43-3951_*43-3950insTCCCGTCCC ENSP00000323571.7:n.*43-3951_*43-3950insTCCCGTCCC
ENST00000349036.7:c.188-3951_188-3950insTCCCGTCCC ENSP00000265621.4:n.188-3951_188-3950insTCCCGTCCC
ENST00000354359.11:c.-66_-65insTCCCGTCCC ENSP00000346328.7:n.-66_-65insTCCCGTCCC
ENST00000371075.7:c.*43-3951_*43-3950insTCCCGTCCC MANE Plus Clinical ENSP00000360115.3:n.*43-3951_*43-3950insTCCCGTCCC
ENST00000371085.7:c.-66_-65insTCCCGTCCC ENSP00000360126.3:n.-66_-65insTCCCGTCCC
ENST00000371095.7:c.-66_-65insTCCCGTCCC ENSP00000360136.3:n.-66_-65insTCCCGTCCC
ENST00000371098.6:c.*43-3951_*43-3950insTCCCGTCCC ENSP00000360139.2:n.*43-3951_*43-3950insTCCCGTCCC
ENST00000371100.8:c.2069-3951_2069-3950insTCCCGTCCC ENSP00000360141.3:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000371102.8:c.2069-3951_2069-3950insTCCCGTCCC ENSP00000360143.4:n.2069-3951_2069-3950insTCCCGTCCC
ENST00000419558.5:c.384-3951_384-3950insTCCCGTCCC
ENST00000423897.5:c.157-3951_157-3950insTCCCGTCCC
ENST00000450130.5:c.228-3951_228-3950insTCCCGTCCC
ENST00000453292.5:c.544-3951_544-3950insTCCCGTCCC ENSP00000392000.1:n.544-3951_544-3950insTCCCGTCCC
ENST00000461152.5:n.147+872_147+873insTCCCGTCCC
ENST00000462499.5:n.259-3951_259-3950insTCCCGTCCC
ENST00000464624.6:n.2151_2152insTCCCGTCCC
ENST00000464788.5:n.67+2448_67+2449insTCCCGTCCC
ENST00000464960.5:n.406+2843_406+2844insTCCCGTCCC
ENST00000467227.5:n.123-3951_123-3950insTCCCGTCCC
ENST00000467321.5:n.154+2615_154+2616insTCCCGTCCC
ENST00000468895.5:n.50+2753_50+2754insTCCCGTCCC
ENST00000469431.5:n.256+2255_256+2256insTCCCGTCCC
ENST00000470512.5:n.210+2308_210+2309insTCCCGTCCC
ENST00000472183.5:n.392-3951_392-3950insTCCCGTCCC
ENST00000477931.5:n.254+2308_254+2309insTCCCGTCCC
ENST00000478585.5:n.194+2308_194+2309insTCCCGTCCC
ENST00000480232.5:n.155+2112_155+2113insTCCCGTCCC
ENST00000480975.5:n.183+2308_183+2309insTCCCGTCCC
ENST00000481039.5:n.56+2757_56+2758insTCCCGTCCC
ENST00000481768.5:n.1324-3951_1324-3950insTCCCGTCCC
ENST00000482112.5:n.259-3951_259-3950insTCCCGTCCC
ENST00000484504.5:n.127+2308_127+2309insTCCCGTCCC
ENST00000485673.5:n.426+2112_426+2113insTCCCGTCCC
ENST00000488546.5:n.40+2843_40+2844insTCCCGTCCC
ENST00000490374.5:n.255-3951_255-3950insTCCCGTCCC
ENST00000491348.5:n.534-3951_534-3950insTCCCGTCCC
ENST00000493744.5:n.233-3951_233-3950insTCCCGTCCC
ENST00000604005.5:c.-39+2329_-39+2330insTCCCGTCCC ENSP00000474219.1:n.-39+2329_-39+2330insTCCCGTCCC
NM_000516.4:c.-66_-65insTCCCGTCCC NP_000507.1:n.-66_-65insTCCCGTCCC
NM_000516.5:c.-66_-65insTCCCGTCCC NP_000507.1:n.-66_-65insTCCCGTCCC
NM_001077488.2:c.-66_-65insTCCCGTCCC NP_001070956.1:n.-66_-65insTCCCGTCCC
NM_001077488.3:c.-66_-65insTCCCGTCCC NP_001070956.1:n.-66_-65insTCCCGTCCC
NM_001077489.2:c.-66_-65insTCCCGTCCC NP_001070957.1:n.-66_-65insTCCCGTCCC
NM_001077489.3:c.-66_-65insTCCCGTCCC NP_001070957.1:n.-66_-65insTCCCGTCCC
NM_001077490.1:c.*1-3951_*1-3950insTCCCGTCCC NP_001070958.1:n.*1-3951_*1-3950insTCCCGTCCC
NM_001077490.2:c.*1-3951_*1-3950insTCCCGTCCC NP_001070958.1:n.*1-3951_*1-3950insTCCCGTCCC
NM_001309840.1:c.-39+2308_-39+2309insTCCCGTCCC NP_001296769.1:n.-39+2308_-39+2309insTCCCGTCCC
NM_001309842.1:c.-66_-65insTCCCGTCCC NP_001296771.1:n.-66_-65insTCCCGTCCC
NM_001309861.1:c.-38-3951_-38-3950insTCCCGTCCC NP_001296790.1:n.-38-3951_-38-3950insTCCCGTCCC
NM_001309883.1:c.*159-3951_*159-3950insTCCCGTCCC NP_001296812.1:n.*159-3951_*159-3950insTCCCGTCCC
NM_016592.2:c.*43-3951_*43-3950insTCCCGTCCC NP_057676.1:n.*43-3951_*43-3950insTCCCGTCCC
NM_016592.3:c.*43-3951_*43-3950insTCCCGTCCC NP_057676.1:n.*43-3951_*43-3950insTCCCGTCCC
NM_080425.2:c.2069-3951_2069-3950insTCCCGTCCC NP_536350.2:n.2069-3951_2069-3950insTCCCGTCCC
NM_080425.3:c.2069-3951_2069-3950insTCCCGTCCC NP_536350.2:n.2069-3951_2069-3950insTCCCGTCCC
NM_080426.2:c.-66_-65insTCCCGTCCC NP_536351.1:n.-66_-65insTCCCGTCCC
NM_080426.3:c.-66_-65insTCCCGTCCC NP_536351.1:n.-66_-65insTCCCGTCCC
NR_003259.1:c.-4294967067+2308_-4294967067+2309insTCCCGTCCC
NR_132273.1:n.406+2843_406+2844insTCCCGTCCC
XM_017027812.2:c.2069-3951_2069-3950insTCCCGTCCC XP_016883301.1:n.2069-3951_2069-3950insTCCCGTCCC
XM_017027813.2:c.2069-3951_2069-3950insTCCCGTCCC XP_016883302.1:n.2069-3951_2069-3950insTCCCGTCCC
XM_017027814.2:c.2069-3951_2069-3950insTCCCGTCCC XP_016883303.1:n.2069-3951_2069-3950insTCCCGTCCC
XM_017027815.1:c.44-3951_44-3950insTCCCGTCCC XP_016883304.1:n.44-3951_44-3950insTCCCGTCCC
XM_017027816.1:c.-370_-369insTCCCGTCCC XP_016883305.1:n.-370_-369insTCCCGTCCC
XM_017027817.1:c.-39+2308_-39+2309insTCCCGTCCC XP_016883306.1:n.-39+2308_-39+2309insTCCCGTCCC
XM_017027819.1:c.-39+2329_-39+2330insTCCCGTCCC XP_016883308.1:n.-39+2329_-39+2330insTCCCGTCCC
XM_017027821.1:c.*43-3951_*43-3950insTCCCGTCCC XP_016883310.1:n.*43-3951_*43-3950insTCCCGTCCC
XM_017027822.1:c.*43-3951_*43-3950insTCCCGTCCC XP_016883311.1:n.*43-3951_*43-3950insTCCCGTCCC
XM_024451872.1:c.44-3951_44-3950insTCCCGTCCC XP_024307640.1:n.44-3951_44-3950insTCCCGTCCC
XM_024451875.1:c.-39+2329_-39+2330insTCCCGTCCC XP_024307643.1:n.-39+2329_-39+2330insTCCCGTCCC
XR_002958471.1:n.560_561insTCCCGTCCC
NM_000516.6:c.-66_-65insTCCCGTCCC NP_000507.1:n.-66_-65insTCCCGTCCC
NM_001077488.4:c.-66_-65insTCCCGTCCC NP_001070956.1:n.-66_-65insTCCCGTCCC
NM_001077489.4:c.-66_-65insTCCCGTCCC NP_001070957.1:n.-66_-65insTCCCGTCCC
NM_001309840.2:c.-39+2308_-39+2309insTCCCGTCCC NP_001296769.1:n.-39+2308_-39+2309insTCCCGTCCC
NM_001309842.2:c.-66_-65insTCCCGTCCC NP_001296771.1:n.-66_-65insTCCCGTCCC
NM_001309861.2:c.-38-3951_-38-3950insTCCCGTCCC NP_001296790.1:n.-38-3951_-38-3950insTCCCGTCCC
NM_016592.4:c.*43-3951_*43-3950insTCCCGTCCC NP_057676.1:n.*43-3951_*43-3950insTCCCGTCCC
NM_080426.4:c.-66_-65insTCCCGTCCC NP_536351.1:n.-66_-65insTCCCGTCCC
NM_000516.7:c.-66_-65insTCCCGTCCC MANE Select NP_000507.1:n.-66_-65insTCCCGTCCC
NM_001077488.5:c.-66_-65insTCCCGTCCC NP_001070956.1:n.-66_-65insTCCCGTCCC
NM_001077490.3:c.*1-3951_*1-3950insTCCCGTCCC NP_001070958.1:n.*1-3951_*1-3950insTCCCGTCCC
NM_016592.5:c.*43-3951_*43-3950insTCCCGTCCC MANE Plus Clinical NP_057676.1:n.*43-3951_*43-3950insTCCCGTCCC
NM_080425.4:c.2069-3951_2069-3950insTCCCGTCCC MANE Plus Clinical NP_536350.2:n.2069-3951_2069-3950insTCCCGTCCC