Canonical Allele Identifier: CA2577436438

Gene: GNAS

Linked Data

• dbSNP Id: rs1172451534
• gnomAD v3: 20-58891458-CCGG-C
• gnomAD v4: 20-58891458-CCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891466_58891468del , CM000682.2:g.58891466_58891468del	GRCh38
NC_000020.10:g.57466521_57466523del , CM000682.1:g.57466521_57466523del	GRCh37
NC_000020.9:g.56899916_56899918del	NCBI36
NG_016194.1:g.56727_56729del
NG_016194.2:g.56727_56729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-4146_2069-4144del	ENSP00000265621.6:n.2069-4146_2069-4144del
ENST00000419558.7:c.*43-4146_*43-4144del	ENSP00000416234.2:n.*43-4146_*43-4144del
ENST00000423897.7:c.2069-4146_2069-4144del	ENSP00000412356.2:n.2069-4146_2069-4144del
ENST00000453292.7:c.781-4146_781-4144del	ENSP00000392000.2:n.781-4146_781-4144del
ENST00000462499.6:c.-38-4146_-38-4144del	ENSP00000499758.2:n.-38-4146_-38-4144del
ENST00000464624.7:c.2160-4146_2160-4144del	ENSP00000499607.2:n.2160-4146_2160-4144del
ENST00000464788.6:c.-39+2253_-39+2255del	ENSP00000499239.2:n.-39+2253_-39+2255del
ENST00000467227.6:c.-38-4146_-38-4144del	ENSP00000499681.2:n.-38-4146_-38-4144del
ENST00000467321.6:c.-39+2420_-39+2422del	ENSP00000499523.2:n.-39+2420_-39+2422del
ENST00000469431.6:c.-39+2060_-39+2062del	ENSP00000499654.2:n.-39+2060_-39+2062del
ENST00000470512.6:c.-39+2113_-39+2115del	ENSP00000499552.2:n.-39+2113_-39+2115del
ENST00000472183.6:c.-38-4146_-38-4144del	ENSP00000499673.2:n.-38-4146_-38-4144del
ENST00000478585.6:c.-39+2113_-39+2115del	ENSP00000499762.2:n.-39+2113_-39+2115del
ENST00000480232.6:c.-39+1917_-39+1919del	ENSP00000499545.2:n.-39+1917_-39+1919del
ENST00000481039.6:c.-39+2558_-39+2560del	ENSP00000499767.2:n.-39+2558_-39+2560del
ENST00000482112.6:c.-38-4146_-38-4144del	ENSP00000499794.2:n.-38-4146_-38-4144del
ENST00000485673.6:c.-39+1917_-39+1919del	ENSP00000499334.2:n.-39+1917_-39+1919del
ENST00000488546.6:c.-39+2648_-39+2650del	ENSP00000499332.2:n.-39+2648_-39+2650del
ENST00000604005.6:c.-39+2134_-39+2136del	ENSP00000474219.2:n.-39+2134_-39+2136del
ENST00000663479.2:c.-38-4146_-38-4144del	ENSP00000499353.2:n.-38-4146_-38-4144del
ENST00000667293.2:c.-39+2562_-39+2564del	ENSP00000499293.2:n.-39+2562_-39+2564del
ENST00000676826.2:c.2069-4146_2069-4144del	ENSP00000504675.2:n.2069-4146_2069-4144del
ENST00000683015.1:c.909+677_909+679del	ENSP00000506815.1:n.909+677_909+679del
ENST00000306090.12:c.44-4146_44-4144del	ENSP00000304472.12:n.44-4146_44-4144del
ENST00000349036.8:c.2069-4146_2069-4144del	ENSP00000265621.5:n.2069-4146_2069-4144del
ENST00000354359.12:c.-261_-259del	ENSP00000346328.7:n.-261_-259del
ENST00000371085.8:c.-261_-259del MANE Select	ENSP00000360126.3:n.-261_-259del
ENST00000371100.9:c.2069-4146_2069-4144del MANE Plus Clinical	ENSP00000360141.3:n.2069-4146_2069-4144del
ENST00000419558.6:c.*43-4146_*43-4144del	ENSP00000416234.2:n.*43-4146_*43-4144del
ENST00000423897.6:c.2069-4146_2069-4144del	ENSP00000412356.2:n.2069-4146_2069-4144del
ENST00000453292.6:c.*43-4146_*43-4144del	ENSP00000392000.2:n.*43-4146_*43-4144del
ENST00000461152.6:c.909+677_909+679del	ENSP00000499274.1:n.909+677_909+679del
ENST00000481768.6:c.2227-4146_2227-4144del	ENSP00000499644.2:n.2227-4146_2227-4144del
ENST00000490374.6:n.223-4146_223-4144del
ENST00000657090.1:c.-38-4146_-38-4144del	ENSP00000499380.1:n.-38-4146_-38-4144del
ENST00000663479.1:c.-38-4146_-38-4144del	ENSP00000499353.1:n.-38-4146_-38-4144del
ENST00000667293.1:c.11-4146_11-4144del	ENSP00000499293.1:n.11-4146_11-4144del
ENST00000676826.1:c.2069-4146_2069-4144del	ENSP00000504675.1:n.2069-4146_2069-4144del
ENST00000265620.11:c.-261_-259del	ENSP00000265620.7:n.-261_-259del
ENST00000313949.11:c.*43-4146_*43-4144del	ENSP00000323571.7:n.*43-4146_*43-4144del
ENST00000349036.7:c.188-4146_188-4144del	ENSP00000265621.4:n.188-4146_188-4144del
ENST00000354359.11:c.-261_-259del	ENSP00000346328.7:n.-261_-259del
ENST00000371075.7:c.*43-4146_*43-4144del MANE Plus Clinical	ENSP00000360115.3:n.*43-4146_*43-4144del
ENST00000371085.7:c.-261_-259del	ENSP00000360126.3:n.-261_-259del
ENST00000371095.7:c.-261_-259del	ENSP00000360136.3:n.-261_-259del
ENST00000371098.6:c.*43-4146_*43-4144del	ENSP00000360139.2:n.*43-4146_*43-4144del
ENST00000371100.8:c.2069-4146_2069-4144del	ENSP00000360141.3:n.2069-4146_2069-4144del
ENST00000371102.8:c.2069-4146_2069-4144del	ENSP00000360143.4:n.2069-4146_2069-4144del
ENST00000419558.5:c.384-4146_384-4144del
ENST00000423897.5:c.157-4146_157-4144del
ENST00000450130.5:c.228-4146_228-4144del
ENST00000453292.5:c.544-4146_544-4144del	ENSP00000392000.1:n.544-4146_544-4144del
ENST00000461152.5:n.147+677_147+679del
ENST00000462499.5:n.259-4146_259-4144del
ENST00000464624.6:n.2072-116_2072-114del
ENST00000464788.5:n.67+2253_67+2255del
ENST00000464960.5:n.406+2648_406+2650del
ENST00000467227.5:n.123-4146_123-4144del
ENST00000467321.5:n.154+2420_154+2422del
ENST00000468895.5:n.50+2558_50+2560del
ENST00000469431.5:n.256+2060_256+2062del
ENST00000470512.5:n.210+2113_210+2115del
ENST00000472183.5:n.392-4146_392-4144del
ENST00000477931.5:n.254+2113_254+2115del
ENST00000478585.5:n.194+2113_194+2115del
ENST00000480232.5:n.155+1917_155+1919del
ENST00000480975.5:n.183+2113_183+2115del
ENST00000481039.5:n.56+2562_56+2564del
ENST00000481768.5:n.1324-4146_1324-4144del
ENST00000482112.5:n.259-4146_259-4144del
ENST00000484504.5:n.127+2113_127+2115del
ENST00000485673.5:n.426+1917_426+1919del
ENST00000488546.5:n.40+2648_40+2650del
ENST00000490374.5:n.255-4146_255-4144del
ENST00000491348.5:n.534-4146_534-4144del
ENST00000493744.5:n.233-4146_233-4144del
ENST00000604005.5:c.-39+2134_-39+2136del	ENSP00000474219.1:n.-39+2134_-39+2136del
NM_000516.4:c.-261_-259del	NP_000507.1:n.-261_-259del
NM_000516.5:c.-261_-259del	NP_000507.1:n.-261_-259del
NM_001077488.2:c.-261_-259del	NP_001070956.1:n.-261_-259del
NM_001077488.3:c.-261_-259del	NP_001070956.1:n.-261_-259del
NM_001077489.2:c.-261_-259del	NP_001070957.1:n.-261_-259del
NM_001077489.3:c.-261_-259del	NP_001070957.1:n.-261_-259del
NM_001077490.1:c.*1-4146_*1-4144del	NP_001070958.1:n.*1-4146_*1-4144del
NM_001077490.2:c.*1-4146_*1-4144del	NP_001070958.1:n.*1-4146_*1-4144del
NM_001309840.1:c.-39+2113_-39+2115del	NP_001296769.1:n.-39+2113_-39+2115del
NM_001309842.1:c.-261_-259del	NP_001296771.1:n.-261_-259del
NM_001309861.1:c.-38-4146_-38-4144del	NP_001296790.1:n.-38-4146_-38-4144del
NM_001309883.1:c.*159-4146_*159-4144del	NP_001296812.1:n.*159-4146_*159-4144del
NM_016592.2:c.*43-4146_*43-4144del	NP_057676.1:n.*43-4146_*43-4144del
NM_016592.3:c.*43-4146_*43-4144del	NP_057676.1:n.*43-4146_*43-4144del
NM_080425.2:c.2069-4146_2069-4144del	NP_536350.2:n.2069-4146_2069-4144del
NM_080425.3:c.2069-4146_2069-4144del	NP_536350.2:n.2069-4146_2069-4144del
NM_080426.2:c.-261_-259del	NP_536351.1:n.-261_-259del
NM_080426.3:c.-261_-259del	NP_536351.1:n.-261_-259del
NR_003259.1:c.-4294967067+2113_-4294967067+2115del
NR_132273.1:n.406+2648_406+2650del
XM_017027812.2:c.2069-4146_2069-4144del	XP_016883301.1:n.2069-4146_2069-4144del
XM_017027813.2:c.2069-4146_2069-4144del	XP_016883302.1:n.2069-4146_2069-4144del
XM_017027814.2:c.2069-4146_2069-4144del	XP_016883303.1:n.2069-4146_2069-4144del
XM_017027815.1:c.44-4146_44-4144del	XP_016883304.1:n.44-4146_44-4144del
XM_017027816.1:c.-565_-563del	XP_016883305.1:n.-565_-563del
XM_017027817.1:c.-39+2113_-39+2115del	XP_016883306.1:n.-39+2113_-39+2115del
XM_017027819.1:c.-39+2134_-39+2136del	XP_016883308.1:n.-39+2134_-39+2136del
XM_017027821.1:c.*43-4146_*43-4144del	XP_016883310.1:n.*43-4146_*43-4144del
XM_017027822.1:c.*43-4146_*43-4144del	XP_016883311.1:n.*43-4146_*43-4144del
XM_024451872.1:c.44-4146_44-4144del	XP_024307640.1:n.44-4146_44-4144del
XM_024451875.1:c.-39+2134_-39+2136del	XP_024307643.1:n.-39+2134_-39+2136del
XR_002958471.1:n.365_367del
NM_000516.6:c.-261_-259del	NP_000507.1:n.-261_-259del
NM_001077488.4:c.-261_-259del	NP_001070956.1:n.-261_-259del
NM_001077489.4:c.-261_-259del	NP_001070957.1:n.-261_-259del
NM_001309840.2:c.-39+2113_-39+2115del	NP_001296769.1:n.-39+2113_-39+2115del
NM_001309842.2:c.-261_-259del	NP_001296771.1:n.-261_-259del
NM_001309861.2:c.-38-4146_-38-4144del	NP_001296790.1:n.-38-4146_-38-4144del
NM_016592.4:c.*43-4146_*43-4144del	NP_057676.1:n.*43-4146_*43-4144del
NM_080426.4:c.-261_-259del	NP_536351.1:n.-261_-259del
NM_000516.7:c.-261_-259del MANE Select	NP_000507.1:n.-261_-259del
NM_001077488.5:c.-261_-259del	NP_001070956.1:n.-261_-259del
NM_001077490.3:c.*1-4146_*1-4144del	NP_001070958.1:n.*1-4146_*1-4144del
NM_016592.5:c.*43-4146_*43-4144del MANE Plus Clinical	NP_057676.1:n.*43-4146_*43-4144del
NM_080425.4:c.2069-4146_2069-4144del MANE Plus Clinical	NP_536350.2:n.2069-4146_2069-4144del