Canonical Allele Identifier: CA16043111

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58910737del , CM000682.2:g.58910737del	GRCh38
NC_000020.10:g.57485792del , CM000682.1:g.57485792del	GRCh37
NC_000020.9:g.56919187del	NCBI36
NG_016194.1:g.75998del
NG_016194.2:g.75998del

Transcript Alleles

HGVS	Amino-acid Change
NM_000516.7:c.1093del MANE Select	NP_000507.1:p.Cys365AlafsTer?
ENST00000371085.8:c.1093del MANE Select	ENSP00000360126.3:p.Cys365AlafsTer?
NM_016592.5:c.*999del MANE Plus Clinical	NP_057676.1:n.*999del
NM_080425.4:c.3022del MANE Plus Clinical	NP_536350.2:p.Cys1008AlafsTer?
ENST00000371075.7:c.*999del MANE Plus Clinical	ENSP00000360115.3:n.*999del
ENST00000371100.9:c.3022del MANE Plus Clinical	ENSP00000360141.3:p.Cys1008AlafsTer?
NM_000516.4:c.1093del	NP_000507.1:p.Cys365AlafsTer?
NM_000516.5:c.1093del	NP_000507.1:p.Cys365AlafsTer?
NM_000516.6:c.1093del	NP_000507.1:p.Cys365AlafsTer?
NM_001077488.2:c.1096del	NP_001070956.1:p.Cys366AlafsTer?
NM_001077488.3:c.1096del	NP_001070956.1:p.Cys366AlafsTer?
NM_001077488.4:c.1096del	NP_001070956.1:p.Cys366AlafsTer?
NM_001077488.5:c.1096del	NP_001070956.1:p.Cys366AlafsTer?
NM_001077489.2:c.1048del	NP_001070957.1:p.Cys350AlafsTer?
NM_001077489.3:c.1048del	NP_001070957.1:p.Cys350AlafsTer?
NM_001077489.4:c.1048del	NP_001070957.1:p.Cys350AlafsTer?
NM_001077490.1:c.*954del	NP_001070958.1:n.*954del
NM_001077490.2:c.*954del	NP_001070958.1:n.*954del
NM_001077490.3:c.*954del	NP_001070958.1:n.*954del
NM_001309840.1:c.916del	NP_001296769.1:p.Cys306AlafsTer?
NM_001309840.2:c.916del	NP_001296769.1:p.Cys306AlafsTer?
NM_001309861.1:c.916del	NP_001296790.1:p.Cys306AlafsTer?
NM_001309861.2:c.916del	NP_001296790.1:p.Cys306AlafsTer?
NM_016592.2:c.*999del	NP_057676.1:n.*999del
NM_016592.3:c.*999del	NP_057676.1:n.*999del
NM_016592.4:c.*999del	NP_057676.1:n.*999del
NM_080425.2:c.3022del	NP_536350.2:p.Cys1008AlafsTer?
NM_080425.3:c.3022del	NP_536350.2:p.Cys1008AlafsTer?
NM_080426.2:c.1051del	NP_536351.1:p.Cys351AlafsTer?
NM_080426.3:c.1051del	NP_536351.1:p.Cys351AlafsTer?
NM_080426.4:c.1051del	NP_536351.1:p.Cys351AlafsTer?
NR_003259.1:c.-4294966113del
ENST00000265620.11:c.1048del	ENSP00000265620.7:p.Cys350AlafsTer?
ENST00000306090.11:c.385del	ENSP00000304472.11:p.Cys129AlafsTer?
ENST00000306090.12:c.997del	ENSP00000304472.12:p.Cys333AlafsTer?
ENST00000313949.11:c.*996del	ENSP00000323571.7:n.*996del
ENST00000349036.9:c.2977del	ENSP00000265621.6:p.Cys993AlafsTer?
ENST00000354359.11:c.1096del	ENSP00000346328.7:p.Cys366AlafsTer?
ENST00000354359.12:c.1096del	ENSP00000346328.7:p.Cys366AlafsTer?
ENST00000371085.7:c.1093del	ENSP00000360126.3:p.Cys365AlafsTer?
ENST00000371095.7:c.1051del	ENSP00000360136.3:p.Cys351AlafsTer?
ENST00000371100.8:c.3022del	ENSP00000360141.3:p.Cys1008AlafsTer?
ENST00000371102.8:c.2980del	ENSP00000360143.4:p.Cys994AlafsTer?
ENST00000419558.7:c.*951del	ENSP00000416234.2:n.*951del
ENST00000453292.7:c.1692del	ENSP00000392000.2:n.1692del
ENST00000462499.6:c.874del	ENSP00000499758.2:p.Cys292AlafsTer?
ENST00000464624.6:n.3309del
ENST00000464624.7:c.*935del	ENSP00000499607.2:n.*935del
ENST00000464788.6:c.916del	ENSP00000499239.2:p.Cys306AlafsTer?
ENST00000467227.6:c.874del	ENSP00000499681.2:p.Cys292AlafsTer?
ENST00000467321.6:c.916del	ENSP00000499523.2:p.Cys306AlafsTer?
ENST00000468895.6:c.1091del	ENSP00000499551.2:p.Leu364ArgfsTer?
ENST00000469431.6:c.916del	ENSP00000499654.2:p.Cys306AlafsTer?
ENST00000470512.6:c.919del	ENSP00000499552.2:p.Cys307AlafsTer?
ENST00000472183.6:c.916del	ENSP00000499673.2:p.Cys306AlafsTer?
ENST00000475610.1:n.449del
ENST00000475610.2:n.1851del
ENST00000476196.5:n.1386del
ENST00000476935.6:c.871del	ENSP00000499409.2:p.Cys291AlafsTer?
ENST00000477931.5:n.1208del
ENST00000478585.6:c.874del	ENSP00000499762.2:p.Cys292AlafsTer?
ENST00000480232.6:c.919del	ENSP00000499545.2:p.Cys307AlafsTer?
ENST00000480975.5:n.1092del
ENST00000481039.6:c.874del	ENSP00000499767.2:p.Cys292AlafsTer?
ENST00000482112.6:c.871del	ENSP00000499794.2:p.Cys291AlafsTer?
ENST00000485673.6:c.874del	ENSP00000499334.2:p.Cys292AlafsTer?
ENST00000487862.5:n.1327del
ENST00000488546.6:c.874del	ENSP00000499332.2:p.Cys292AlafsTer?
ENST00000488652.6:c.916del	ENSP00000499435.2:p.Cys306AlafsTer?
ENST00000492907.6:c.874del	ENSP00000499443.2:p.Cys292AlafsTer?
ENST00000496934.5:n.2382del
ENST00000603546.2:c.916del	ENSP00000474802.2:p.Cys306AlafsTer?
ENST00000604005.6:c.916del	ENSP00000474219.2:p.Cys306AlafsTer?
ENST00000656419.1:c.622del	ENSP00000499614.1:p.Cys208AlafsTer?
ENST00000657090.1:c.916del	ENSP00000499380.1:p.Cys306AlafsTer?
ENST00000663479.2:c.919del	ENSP00000499353.2:p.Cys307AlafsTer?
ENST00000667293.1:c.964del	ENSP00000499293.1:p.Cys322AlafsTer?
ENST00000667293.2:c.916del	ENSP00000499293.2:p.Cys306AlafsTer?
ENST00000676826.2:c.3025del	ENSP00000504675.2:p.Cys1009AlafsTer?
ENST00000682092.1:n.5377del
ENST00000682134.1:n.3019del
ENST00000682411.1:n.3188del
ENST00000682590.1:n.5280del
ENST00000682680.1:n.5294del
ENST00000682803.1:c.766del	ENSP00000507069.1:p.Cys256AlafsTer?
ENST00000682829.1:n.3421del
ENST00000682917.1:n.1621del
ENST00000682986.1:n.6189del
ENST00000683015.1:c.1863del	ENSP00000506815.1:n.1863del
ENST00000683632.1:n.5875del
ENST00000683932.1:n.6869del
ENST00000684284.1:n.3471del
ENST00000684466.1:n.1732del
ENST00000684644.1:n.5413del
ENST00000684761.1:n.1586del
XM_017027812.2:c.3025del	XP_016883301.1:p.Cys1009AlafsTer?
XM_017027813.2:c.2980del	XP_016883302.1:p.Cys994AlafsTer?
XM_017027814.2:c.2977del	XP_016883303.1:p.Cys993AlafsTer?
XM_017027815.1:c.952del	XP_016883304.1:p.Cys318AlafsTer?
XM_017027816.1:c.871del	XP_016883305.1:p.Cys291AlafsTer?
XM_017027817.1:c.871del	XP_016883306.1:p.Cys291AlafsTer?
XM_017027818.2:c.871del	XP_016883307.1:p.Cys291AlafsTer?
XM_017027819.1:c.871del	XP_016883308.1:p.Cys291AlafsTer?
XM_017027820.1:c.871del	XP_016883309.1:p.Cys291AlafsTer?
XM_024451872.1:c.997del	XP_024307640.1:p.Cys333AlafsTer?
XM_024451873.1:c.916del	XP_024307641.1:p.Cys306AlafsTer?
XM_024451874.1:c.916del	XP_024307642.1:p.Cys306AlafsTer?
XM_024451875.1:c.916del	XP_024307643.1:p.Cys306AlafsTer?
XR_002958471.1:n.1800del