Canonical Allele Identifier: CA2816858921

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891812_58891814dup , CM000682.2:g.58891812_58891814dup	GRCh38
NC_000020.10:g.57466867_57466869dup , CM000682.1:g.57466867_57466869dup	GRCh37
NC_000020.9:g.56900262_56900264dup	NCBI36
NG_016194.1:g.57073_57075dup
NG_016194.2:g.57073_57075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3800_2069-3798dup	ENSP00000265621.6:n.2069-3800_2069-3798dup
ENST00000419558.7:c.*43-3800_*43-3798dup	ENSP00000416234.2:n.*43-3800_*43-3798dup
ENST00000423897.7:c.2069-3800_2069-3798dup	ENSP00000412356.2:n.2069-3800_2069-3798dup
ENST00000453292.7:c.781-3800_781-3798dup	ENSP00000392000.2:n.781-3800_781-3798dup
ENST00000462499.6:c.-38-3800_-38-3798dup	ENSP00000499758.2:n.-38-3800_-38-3798dup
ENST00000464624.7:c.2160-3800_2160-3798dup	ENSP00000499607.2:n.2160-3800_2160-3798dup
ENST00000464788.6:c.-39+2599_-39+2601dup	ENSP00000499239.2:n.-39+2599_-39+2601dup
ENST00000467227.6:c.-38-3800_-38-3798dup	ENSP00000499681.2:n.-38-3800_-38-3798dup
ENST00000467321.6:c.-39+2766_-39+2768dup	ENSP00000499523.2:n.-39+2766_-39+2768dup
ENST00000468895.6:c.86_88dup	ENSP00000499551.2:p.Gln29_Leu30insGln
ENST00000469431.6:c.-39+2406_-39+2408dup	ENSP00000499654.2:n.-39+2406_-39+2408dup
ENST00000470512.6:c.-39+2459_-39+2461dup	ENSP00000499552.2:n.-39+2459_-39+2461dup
ENST00000472183.6:c.-38-3800_-38-3798dup	ENSP00000499673.2:n.-38-3800_-38-3798dup
ENST00000478585.6:c.-39+2459_-39+2461dup	ENSP00000499762.2:n.-39+2459_-39+2461dup
ENST00000480232.6:c.-39+2263_-39+2265dup	ENSP00000499545.2:n.-39+2263_-39+2265dup
ENST00000481039.6:c.-39+2904_-39+2906dup	ENSP00000499767.2:n.-39+2904_-39+2906dup
ENST00000482112.6:c.-38-3800_-38-3798dup	ENSP00000499794.2:n.-38-3800_-38-3798dup
ENST00000485673.6:c.-39+2263_-39+2265dup	ENSP00000499334.2:n.-39+2263_-39+2265dup
ENST00000488546.6:c.-39+2994_-39+2996dup	ENSP00000499332.2:n.-39+2994_-39+2996dup
ENST00000604005.6:c.-39+2480_-39+2482dup	ENSP00000474219.2:n.-39+2480_-39+2482dup
ENST00000663479.2:c.-38-3800_-38-3798dup	ENSP00000499353.2:n.-38-3800_-38-3798dup
ENST00000667293.2:c.-39+2908_-39+2910dup	ENSP00000499293.2:n.-39+2908_-39+2910dup
ENST00000676826.2:c.2069-3800_2069-3798dup	ENSP00000504675.2:n.2069-3800_2069-3798dup
ENST00000682803.1:c.-419_-417dup	ENSP00000507069.1:n.-419_-417dup
ENST00000683015.1:c.909+1023_909+1025dup	ENSP00000506815.1:n.909+1023_909+1025dup
ENST00000306090.12:c.44-3800_44-3798dup	ENSP00000304472.12:n.44-3800_44-3798dup
ENST00000338783.7:c.86_88dup	ENSP00000345971.7:p.Gln29_Leu30insGln
ENST00000349036.8:c.2069-3800_2069-3798dup	ENSP00000265621.5:n.2069-3800_2069-3798dup
ENST00000354359.12:c.86_88dup	ENSP00000346328.7:p.Gln29_Leu30insGln
ENST00000371085.8:c.86_88dup MANE Select	ENSP00000360126.3:p.Gln29_Leu30insGln
ENST00000371100.9:c.2069-3800_2069-3798dup MANE Plus Clinical	ENSP00000360141.3:n.2069-3800_2069-3798dup
ENST00000419558.6:c.*43-3800_*43-3798dup	ENSP00000416234.2:n.*43-3800_*43-3798dup
ENST00000423897.6:c.2069-3800_2069-3798dup	ENSP00000412356.2:n.2069-3800_2069-3798dup
ENST00000453292.6:c.*43-3800_*43-3798dup	ENSP00000392000.2:n.*43-3800_*43-3798dup
ENST00000461152.6:c.909+1023_909+1025dup	ENSP00000499274.1:n.909+1023_909+1025dup
ENST00000481768.6:c.2227-3800_2227-3798dup	ENSP00000499644.2:n.2227-3800_2227-3798dup
ENST00000490374.6:n.223-3800_223-3798dup
ENST00000657090.1:c.-38-3800_-38-3798dup	ENSP00000499380.1:n.-38-3800_-38-3798dup
ENST00000663479.1:c.-38-3800_-38-3798dup	ENSP00000499353.1:n.-38-3800_-38-3798dup
ENST00000667293.1:c.11-3800_11-3798dup	ENSP00000499293.1:n.11-3800_11-3798dup
ENST00000676826.1:c.2069-3800_2069-3798dup	ENSP00000504675.1:n.2069-3800_2069-3798dup
ENST00000265620.11:c.86_88dup	ENSP00000265620.7:p.Gln29_Leu30insGln
ENST00000306090.11:c.86_88dup	ENSP00000304472.11:p.Gln29_Leu30insGln
ENST00000313949.11:c.*43-3800_*43-3798dup	ENSP00000323571.7:n.*43-3800_*43-3798dup
ENST00000338783.6:c.53_55dup	ENSP00000345971.6:p.Gln18_Leu19insGln
ENST00000349036.7:c.188-3800_188-3798dup	ENSP00000265621.4:n.188-3800_188-3798dup
ENST00000354359.11:c.86_88dup	ENSP00000346328.7:p.Gln29_Leu30insGln
ENST00000371075.7:c.*43-3800_*43-3798dup MANE Plus Clinical	ENSP00000360115.3:n.*43-3800_*43-3798dup
ENST00000371081.5:c.86_88dup	ENSP00000360122.1:p.Gln29_Leu30insGln
ENST00000371085.7:c.86_88dup	ENSP00000360126.3:p.Gln29_Leu30insGln
ENST00000371095.7:c.86_88dup	ENSP00000360136.3:p.Gln29_Leu30insGln
ENST00000371098.6:c.*43-3800_*43-3798dup	ENSP00000360139.2:n.*43-3800_*43-3798dup
ENST00000371100.8:c.2069-3800_2069-3798dup	ENSP00000360141.3:n.2069-3800_2069-3798dup
ENST00000371102.8:c.2069-3800_2069-3798dup	ENSP00000360143.4:n.2069-3800_2069-3798dup
ENST00000419558.5:c.384-3800_384-3798dup
ENST00000423897.5:c.157-3800_157-3798dup
ENST00000450130.5:c.228-3800_228-3798dup
ENST00000453292.5:c.544-3800_544-3798dup	ENSP00000392000.1:n.544-3800_544-3798dup
ENST00000461152.5:n.147+1023_147+1025dup
ENST00000462499.5:n.259-3800_259-3798dup
ENST00000464624.6:n.2302_2304dup
ENST00000464788.5:n.67+2599_67+2601dup
ENST00000464960.5:n.406+2994_406+2996dup
ENST00000467227.5:n.123-3800_123-3798dup
ENST00000467321.5:n.154+2766_154+2768dup
ENST00000468895.5:n.50+2904_50+2906dup
ENST00000469431.5:n.256+2406_256+2408dup
ENST00000470512.5:n.210+2459_210+2461dup
ENST00000472183.5:n.392-3800_392-3798dup
ENST00000477931.5:n.254+2459_254+2461dup
ENST00000478585.5:n.194+2459_194+2461dup
ENST00000480232.5:n.155+2263_155+2265dup
ENST00000480975.5:n.183+2459_183+2461dup
ENST00000481039.5:n.56+2908_56+2910dup
ENST00000481768.5:n.1324-3800_1324-3798dup
ENST00000482112.5:n.259-3800_259-3798dup
ENST00000484504.5:n.127+2459_127+2461dup
ENST00000485673.5:n.426+2263_426+2265dup
ENST00000488546.5:n.40+2994_40+2996dup
ENST00000490374.5:n.255-3800_255-3798dup
ENST00000491348.5:n.534-3800_534-3798dup
ENST00000493744.5:n.233-3800_233-3798dup
ENST00000604005.5:c.-39+2480_-39+2482dup	ENSP00000474219.1:n.-39+2480_-39+2482dup
NM_000516.4:c.86_88dup	NP_000507.1:p.Gln29_Leu30insGln
NM_000516.5:c.86_88dup	NP_000507.1:p.Gln29_Leu30insGln
NM_001077488.2:c.86_88dup	NP_001070956.1:p.Gln29_Leu30insGln
NM_001077488.3:c.86_88dup	NP_001070956.1:p.Gln29_Leu30insGln
NM_001077489.2:c.86_88dup	NP_001070957.1:p.Gln29_Leu30insGln
NM_001077489.3:c.86_88dup	NP_001070957.1:p.Gln29_Leu30insGln
NM_001077490.1:c.*1-3800_*1-3798dup	NP_001070958.1:n.*1-3800_*1-3798dup
NM_001077490.2:c.*1-3800_*1-3798dup	NP_001070958.1:n.*1-3800_*1-3798dup
NM_001309840.1:c.-39+2459_-39+2461dup	NP_001296769.1:n.-39+2459_-39+2461dup
NM_001309842.1:c.86_88dup	NP_001296771.1:p.Gln29_Leu30insGln
NM_001309861.1:c.-38-3800_-38-3798dup	NP_001296790.1:n.-38-3800_-38-3798dup
NM_001309883.1:c.*159-3800_*159-3798dup	NP_001296812.1:n.*159-3800_*159-3798dup
NM_016592.2:c.*43-3800_*43-3798dup	NP_057676.1:n.*43-3800_*43-3798dup
NM_016592.3:c.*43-3800_*43-3798dup	NP_057676.1:n.*43-3800_*43-3798dup
NM_080425.2:c.2069-3800_2069-3798dup	NP_536350.2:n.2069-3800_2069-3798dup
NM_080425.3:c.2069-3800_2069-3798dup	NP_536350.2:n.2069-3800_2069-3798dup
NM_080426.2:c.86_88dup	NP_536351.1:p.Gln29_Leu30insGln
NM_080426.3:c.86_88dup	NP_536351.1:p.Gln29_Leu30insGln
NR_003259.1:c.-4294967067+2459_-4294967067+2461dup
NR_132273.1:n.406+2994_406+2996dup
XM_017027812.2:c.2069-3800_2069-3798dup	XP_016883301.1:n.2069-3800_2069-3798dup
XM_017027813.2:c.2069-3800_2069-3798dup	XP_016883302.1:n.2069-3800_2069-3798dup
XM_017027814.2:c.2069-3800_2069-3798dup	XP_016883303.1:n.2069-3800_2069-3798dup
XM_017027815.1:c.44-3800_44-3798dup	XP_016883304.1:n.44-3800_44-3798dup
XM_017027816.1:c.-219_-217dup	XP_016883305.1:n.-219_-217dup
XM_017027817.1:c.-39+2459_-39+2461dup	XP_016883306.1:n.-39+2459_-39+2461dup
XM_017027819.1:c.-39+2480_-39+2482dup	XP_016883308.1:n.-39+2480_-39+2482dup
XM_017027821.1:c.*43-3800_*43-3798dup	XP_016883310.1:n.*43-3800_*43-3798dup
XM_017027822.1:c.*43-3800_*43-3798dup	XP_016883311.1:n.*43-3800_*43-3798dup
XM_024451872.1:c.44-3800_44-3798dup	XP_024307640.1:n.44-3800_44-3798dup
XM_024451875.1:c.-39+2480_-39+2482dup	XP_024307643.1:n.-39+2480_-39+2482dup
XR_002958471.1:n.711_713dup
NM_000516.6:c.86_88dup	NP_000507.1:p.Gln29_Leu30insGln
NM_001077488.4:c.86_88dup	NP_001070956.1:p.Gln29_Leu30insGln
NM_001077489.4:c.86_88dup	NP_001070957.1:p.Gln29_Leu30insGln
NM_001309840.2:c.-39+2459_-39+2461dup	NP_001296769.1:n.-39+2459_-39+2461dup
NM_001309842.2:c.86_88dup	NP_001296771.1:p.Gln29_Leu30insGln
NM_001309861.2:c.-38-3800_-38-3798dup	NP_001296790.1:n.-38-3800_-38-3798dup
NM_016592.4:c.*43-3800_*43-3798dup	NP_057676.1:n.*43-3800_*43-3798dup
NM_080426.4:c.86_88dup	NP_536351.1:p.Gln29_Leu30insGln
NM_000516.7:c.86_88dup MANE Select	NP_000507.1:p.Gln29_Leu30insGln
NM_001077488.5:c.86_88dup	NP_001070956.1:p.Gln29_Leu30insGln
NM_001077490.3:c.*1-3800_*1-3798dup	NP_001070958.1:n.*1-3800_*1-3798dup
NM_016592.5:c.*43-3800_*43-3798dup MANE Plus Clinical	NP_057676.1:n.*43-3800_*43-3798dup
NM_080425.4:c.2069-3800_2069-3798dup MANE Plus Clinical	NP_536350.2:n.2069-3800_2069-3798dup