Canonical Allele Identifier: CA2695229934
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58909800_58909804dup , CM000682.2:g.58909800_58909804dup GRCh38
NC_000020.10:g.57484855_57484859dup , CM000682.1:g.57484855_57484859dup GRCh37
NC_000020.9:g.56918250_56918254dup NCBI36
NG_016194.1:g.75061_75065dup
NG_016194.2:g.75061_75065dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2719_2723dup ENSP00000265621.6:p.Trp909ThrfsTer9
ENST00000419558.7:c.*693_*697dup ENSP00000416234.2:n.*693_*697dup
ENST00000453292.7:c.1434_1438dup ENSP00000392000.2:n.1434_1438dup
ENST00000462499.6:c.616_620dup ENSP00000499758.2:p.Trp208ThrfsTer9
ENST00000464624.7:c.*677_*681dup ENSP00000499607.2:n.*677_*681dup
ENST00000464788.6:c.658_662dup ENSP00000499239.2:p.Trp222ThrfsTer9
ENST00000467227.6:c.616_620dup ENSP00000499681.2:p.Trp208ThrfsTer9
ENST00000467321.6:c.658_662dup ENSP00000499523.2:p.Trp222ThrfsTer9
ENST00000468895.6:c.835_839dup ENSP00000499551.2:p.Trp281ThrfsTer9
ENST00000469431.6:c.658_662dup ENSP00000499654.2:p.Trp222ThrfsTer9
ENST00000470512.6:c.661_665dup ENSP00000499552.2:p.Trp223ThrfsTer9
ENST00000472183.6:c.658_662dup ENSP00000499673.2:p.Trp222ThrfsTer9
ENST00000475610.2:n.1341_1345dup
ENST00000476935.6:c.613_617dup ENSP00000499409.2:p.Trp207ThrfsTer9
ENST00000478585.6:c.616_620dup ENSP00000499762.2:p.Trp208ThrfsTer9
ENST00000480232.6:c.661_665dup ENSP00000499545.2:p.Trp223ThrfsTer9
ENST00000481039.6:c.616_620dup ENSP00000499767.2:p.Trp208ThrfsTer9
ENST00000482112.6:c.613_617dup ENSP00000499794.2:p.Trp207ThrfsTer9
ENST00000485673.6:c.616_620dup ENSP00000499334.2:p.Trp208ThrfsTer9
ENST00000488546.6:c.616_620dup ENSP00000499332.2:p.Trp208ThrfsTer9
ENST00000488652.6:c.658_662dup ENSP00000499435.2:p.Trp222ThrfsTer9
ENST00000492907.6:c.616_620dup ENSP00000499443.2:p.Trp208ThrfsTer9
ENST00000603546.2:c.658_662dup ENSP00000474802.2:p.Trp222ThrfsTer9
ENST00000604005.6:c.658_662dup ENSP00000474219.2:p.Trp222ThrfsTer9
ENST00000663479.2:c.661_665dup ENSP00000499353.2:p.Trp223ThrfsTer9
ENST00000667293.2:c.658_662dup ENSP00000499293.2:p.Trp222ThrfsTer9
ENST00000676826.2:c.2767_2771dup ENSP00000504675.2:p.Trp925ThrfsTer9
ENST00000682092.1:n.5119_5123dup
ENST00000682134.1:n.2761_2765dup
ENST00000682411.1:n.2930_2934dup
ENST00000682590.1:n.5022_5026dup
ENST00000682680.1:n.5036_5040dup
ENST00000682803.1:c.508_512dup ENSP00000507069.1:p.Trp172ThrfsTer9
ENST00000682829.1:n.3163_3167dup
ENST00000682917.1:n.1363_1367dup
ENST00000682986.1:n.5252_5256dup
ENST00000683015.1:c.1605_1609dup ENSP00000506815.1:n.1605_1609dup
ENST00000683632.1:n.5365_5369dup
ENST00000683932.1:n.6611_6615dup
ENST00000684284.1:n.3213_3217dup
ENST00000684466.1:n.1474_1478dup
ENST00000684644.1:n.5155_5159dup
ENST00000684761.1:n.1328_1332dup
ENST00000306090.12:c.739_743dup ENSP00000304472.12:p.Trp249ThrfsTer9
ENST00000354359.12:c.838_842dup ENSP00000346328.7:p.Trp282ThrfsTer9
ENST00000371085.8:c.835_839dup MANE Select ENSP00000360126.3:p.Trp281ThrfsTer9
ENST00000371100.9:c.2764_2768dup MANE Plus Clinical ENSP00000360141.3:p.Trp924ThrfsTer9
ENST00000656419.1:c.364_368dup ENSP00000499614.1:p.Trp124ThrfsTer9
ENST00000657090.1:c.658_662dup ENSP00000499380.1:p.Trp222ThrfsTer9
ENST00000667293.1:c.706_710dup ENSP00000499293.1:p.Trp238ThrfsTer9
ENST00000265620.11:c.790_794dup ENSP00000265620.7:p.Trp266ThrfsTer9
ENST00000306090.11:c.127_131dup ENSP00000304472.11:p.Trp45ThrfsTer9
ENST00000313949.11:c.*738_*742dup ENSP00000323571.7:n.*738_*742dup
ENST00000354359.11:c.838_842dup ENSP00000346328.7:p.Trp282ThrfsTer9
ENST00000371075.7:c.*741_*745dup MANE Plus Clinical ENSP00000360115.3:n.*741_*745dup
ENST00000371085.7:c.835_839dup ENSP00000360126.3:p.Trp281ThrfsTer9
ENST00000371095.7:c.793_797dup ENSP00000360136.3:p.Trp267ThrfsTer9
ENST00000371100.8:c.2764_2768dup ENSP00000360141.3:p.Trp924ThrfsTer9
ENST00000371102.8:c.2722_2726dup ENSP00000360143.4:p.Trp910ThrfsTer9
ENST00000464624.6:n.3051_3055dup
ENST00000476196.5:n.1128_1132dup
ENST00000477931.5:n.950_954dup
ENST00000480232.5:n.854_858dup
ENST00000480975.5:n.834_838dup
ENST00000487862.5:n.1069_1073dup
ENST00000488546.5:n.694_698dup
ENST00000488652.5:n.925_929dup
ENST00000494081.5:n.390_394dup
ENST00000496934.5:n.2124_2128dup
NM_000516.4:c.835_839dup NP_000507.1:p.Trp281ThrfsTer9
NM_000516.5:c.835_839dup NP_000507.1:p.Trp281ThrfsTer9
NM_001077488.2:c.838_842dup NP_001070956.1:p.Trp282ThrfsTer9
NM_001077488.3:c.838_842dup NP_001070956.1:p.Trp282ThrfsTer9
NM_001077489.2:c.790_794dup NP_001070957.1:p.Trp266ThrfsTer9
NM_001077489.3:c.790_794dup NP_001070957.1:p.Trp266ThrfsTer9
NM_001077490.1:c.*696_*700dup NP_001070958.1:n.*696_*700dup
NM_001077490.2:c.*696_*700dup NP_001070958.1:n.*696_*700dup
NM_001309840.1:c.658_662dup NP_001296769.1:p.Trp222ThrfsTer9
NM_001309861.1:c.658_662dup NP_001296790.1:p.Trp222ThrfsTer9
NM_016592.2:c.*741_*745dup NP_057676.1:n.*741_*745dup
NM_016592.3:c.*741_*745dup NP_057676.1:n.*741_*745dup
NM_080425.2:c.2764_2768dup NP_536350.2:p.Trp924ThrfsTer9
NM_080425.3:c.2764_2768dup NP_536350.2:p.Trp924ThrfsTer9
NM_080426.2:c.793_797dup NP_536351.1:p.Trp267ThrfsTer9
NM_080426.3:c.793_797dup NP_536351.1:p.Trp267ThrfsTer9
NR_003259.1:c.-4294966371_-4294966367dup
XM_017027812.2:c.2767_2771dup XP_016883301.1:p.Trp925ThrfsTer9
XM_017027813.2:c.2722_2726dup XP_016883302.1:p.Trp910ThrfsTer9
XM_017027814.2:c.2719_2723dup XP_016883303.1:p.Trp909ThrfsTer9
XM_017027815.1:c.694_698dup XP_016883304.1:p.Trp234ThrfsTer9
XM_017027816.1:c.613_617dup XP_016883305.1:p.Trp207ThrfsTer9
XM_017027817.1:c.613_617dup XP_016883306.1:p.Trp207ThrfsTer9
XM_017027818.2:c.613_617dup XP_016883307.1:p.Trp207ThrfsTer9
XM_017027819.1:c.613_617dup XP_016883308.1:p.Trp207ThrfsTer9
XM_017027820.1:c.613_617dup XP_016883309.1:p.Trp207ThrfsTer9
XM_024451872.1:c.739_743dup XP_024307640.1:p.Trp249ThrfsTer9
XM_024451873.1:c.658_662dup XP_024307641.1:p.Trp222ThrfsTer9
XM_024451874.1:c.658_662dup XP_024307642.1:p.Trp222ThrfsTer9
XM_024451875.1:c.658_662dup XP_024307643.1:p.Trp222ThrfsTer9
XR_002958471.1:n.1542_1546dup
NM_000516.6:c.835_839dup NP_000507.1:p.Trp281ThrfsTer9
NM_001077488.4:c.838_842dup NP_001070956.1:p.Trp282ThrfsTer9
NM_001077489.4:c.790_794dup NP_001070957.1:p.Trp266ThrfsTer9
NM_001309840.2:c.658_662dup NP_001296769.1:p.Trp222ThrfsTer9
NM_001309861.2:c.658_662dup NP_001296790.1:p.Trp222ThrfsTer9
NM_016592.4:c.*741_*745dup NP_057676.1:n.*741_*745dup
NM_080426.4:c.793_797dup NP_536351.1:p.Trp267ThrfsTer9
NM_000516.7:c.835_839dup MANE Select NP_000507.1:p.Trp281ThrfsTer9
NM_001077488.5:c.838_842dup NP_001070956.1:p.Trp282ThrfsTer9
NM_001077490.3:c.*696_*700dup NP_001070958.1:n.*696_*700dup
NM_016592.5:c.*741_*745dup MANE Plus Clinical NP_057676.1:n.*741_*745dup
NM_080425.4:c.2764_2768dup MANE Plus Clinical NP_536350.2:p.Trp924ThrfsTer9