Canonical Allele Identifier: CA2595220997

Gene: GNAS

Linked Data

• gnomAD v3: 20-58892189-TAC-T
• gnomAD v4: 20-58892189-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58892192_58892193del , CM000682.2:g.58892192_58892193del	GRCh38
NC_000020.10:g.57467247_57467248del , CM000682.1:g.57467247_57467248del	GRCh37
NC_000020.9:g.56900642_56900643del	NCBI36
NG_016194.1:g.57453_57454del
NG_016194.2:g.57453_57454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3420_2069-3419del	ENSP00000265621.6:n.2069-3420_2069-3419del
ENST00000419558.7:c.*43-3420_*43-3419del	ENSP00000416234.2:n.*43-3420_*43-3419del
ENST00000423897.7:c.2069-3420_2069-3419del	ENSP00000412356.2:n.2069-3420_2069-3419del
ENST00000453292.7:c.781-3420_781-3419del	ENSP00000392000.2:n.781-3420_781-3419del
ENST00000462499.6:c.-38-3420_-38-3419del	ENSP00000499758.2:n.-38-3420_-38-3419del
ENST00000464624.7:c.2160-3420_2160-3419del	ENSP00000499607.2:n.2160-3420_2160-3419del
ENST00000464788.6:c.-39+2979_-39+2980del	ENSP00000499239.2:n.-39+2979_-39+2980del
ENST00000467227.6:c.-38-3420_-38-3419del	ENSP00000499681.2:n.-38-3420_-38-3419del
ENST00000467321.6:c.-39+3146_-39+3147del	ENSP00000499523.2:n.-39+3146_-39+3147del
ENST00000468895.6:c.139+327_139+328del	ENSP00000499551.2:n.139+327_139+328del
ENST00000469431.6:c.-39+2786_-39+2787del	ENSP00000499654.2:n.-39+2786_-39+2787del
ENST00000470512.6:c.-39+2839_-39+2840del	ENSP00000499552.2:n.-39+2839_-39+2840del
ENST00000472183.6:c.-38-3420_-38-3419del	ENSP00000499673.2:n.-38-3420_-38-3419del
ENST00000476935.6:c.-56_-55del	ENSP00000499409.2:n.-56_-55del
ENST00000478585.6:c.-39+2839_-39+2840del	ENSP00000499762.2:n.-39+2839_-39+2840del
ENST00000480232.6:c.-39+2643_-39+2644del	ENSP00000499545.2:n.-39+2643_-39+2644del
ENST00000481039.6:c.-39+3284_-39+3285del	ENSP00000499767.2:n.-39+3284_-39+3285del
ENST00000482112.6:c.-38-3420_-38-3419del	ENSP00000499794.2:n.-38-3420_-38-3419del
ENST00000485673.6:c.-39+2643_-39+2644del	ENSP00000499334.2:n.-39+2643_-39+2644del
ENST00000488546.6:c.-39+3374_-39+3375del	ENSP00000499332.2:n.-39+3374_-39+3375del
ENST00000488652.6:c.-56_-55del	ENSP00000499435.2:n.-56_-55del
ENST00000492907.6:c.-56_-55del	ENSP00000499443.2:n.-56_-55del
ENST00000604005.6:c.-39+2860_-39+2861del	ENSP00000474219.2:n.-39+2860_-39+2861del
ENST00000663479.2:c.-38-3420_-38-3419del	ENSP00000499353.2:n.-38-3420_-38-3419del
ENST00000667293.2:c.-39+3288_-39+3289del	ENSP00000499293.2:n.-39+3288_-39+3289del
ENST00000676826.2:c.2069-3420_2069-3419del	ENSP00000504675.2:n.2069-3420_2069-3419del
ENST00000682803.1:c.-366+327_-366+328del	ENSP00000507069.1:n.-366+327_-366+328del
ENST00000683015.1:c.909+1403_909+1404del	ENSP00000506815.1:n.909+1403_909+1404del
ENST00000306090.12:c.44-3420_44-3419del	ENSP00000304472.12:n.44-3420_44-3419del
ENST00000338783.7:c.139+327_139+328del	ENSP00000345971.7:n.139+327_139+328del
ENST00000349036.8:c.2069-3420_2069-3419del	ENSP00000265621.5:n.2069-3420_2069-3419del
ENST00000354359.12:c.139+327_139+328del	ENSP00000346328.7:n.139+327_139+328del
ENST00000371085.8:c.139+327_139+328del MANE Select	ENSP00000360126.3:n.139+327_139+328del
ENST00000371100.9:c.2069-3420_2069-3419del MANE Plus Clinical	ENSP00000360141.3:n.2069-3420_2069-3419del
ENST00000419558.6:c.*43-3420_*43-3419del	ENSP00000416234.2:n.*43-3420_*43-3419del
ENST00000423897.6:c.2069-3420_2069-3419del	ENSP00000412356.2:n.2069-3420_2069-3419del
ENST00000453292.6:c.*43-3420_*43-3419del	ENSP00000392000.2:n.*43-3420_*43-3419del
ENST00000461152.6:c.909+1403_909+1404del	ENSP00000499274.1:n.909+1403_909+1404del
ENST00000481768.6:c.2227-3420_2227-3419del	ENSP00000499644.2:n.2227-3420_2227-3419del
ENST00000490374.6:n.223-3420_223-3419del
ENST00000657090.1:c.-38-3420_-38-3419del	ENSP00000499380.1:n.-38-3420_-38-3419del
ENST00000663479.1:c.-38-3420_-38-3419del	ENSP00000499353.1:n.-38-3420_-38-3419del
ENST00000667293.1:c.11-3420_11-3419del	ENSP00000499293.1:n.11-3420_11-3419del
ENST00000676826.1:c.2069-3420_2069-3419del	ENSP00000504675.1:n.2069-3420_2069-3419del
ENST00000265620.11:c.139+327_139+328del	ENSP00000265620.7:n.139+327_139+328del
ENST00000306090.11:c.93+373_93+374del	ENSP00000304472.11:n.93+373_93+374del
ENST00000313949.11:c.*43-3420_*43-3419del	ENSP00000323571.7:n.*43-3420_*43-3419del
ENST00000338783.6:c.106+327_106+328del	ENSP00000345971.6:n.106+327_106+328del
ENST00000349036.7:c.188-3420_188-3419del	ENSP00000265621.4:n.188-3420_188-3419del
ENST00000354359.11:c.139+327_139+328del	ENSP00000346328.7:n.139+327_139+328del
ENST00000371075.7:c.*43-3420_*43-3419del MANE Plus Clinical	ENSP00000360115.3:n.*43-3420_*43-3419del
ENST00000371081.5:c.139+327_139+328del	ENSP00000360122.1:n.139+327_139+328del
ENST00000371085.7:c.139+327_139+328del	ENSP00000360126.3:n.139+327_139+328del
ENST00000371095.7:c.139+327_139+328del	ENSP00000360136.3:n.139+327_139+328del
ENST00000371098.6:c.*43-3420_*43-3419del	ENSP00000360139.2:n.*43-3420_*43-3419del
ENST00000371100.8:c.2069-3420_2069-3419del	ENSP00000360141.3:n.2069-3420_2069-3419del
ENST00000371102.8:c.2069-3420_2069-3419del	ENSP00000360143.4:n.2069-3420_2069-3419del
ENST00000419558.5:c.384-3420_384-3419del
ENST00000423897.5:c.157-3420_157-3419del
ENST00000450130.5:c.228-3420_228-3419del
ENST00000453292.5:c.544-3420_544-3419del	ENSP00000392000.1:n.544-3420_544-3419del
ENST00000461152.5:n.147+1403_147+1404del
ENST00000462499.5:n.259-3420_259-3419del
ENST00000464624.6:n.2355+327_2355+328del
ENST00000464788.5:n.67+2979_67+2980del
ENST00000464960.5:n.406+3374_406+3375del
ENST00000467227.5:n.123-3420_123-3419del
ENST00000467321.5:n.154+3146_154+3147del
ENST00000468895.5:n.50+3284_50+3285del
ENST00000469431.5:n.256+2786_256+2787del
ENST00000470512.5:n.210+2839_210+2840del
ENST00000472183.5:n.392-3420_392-3419del
ENST00000476935.5:n.156_157del
ENST00000477931.5:n.254+2839_254+2840del
ENST00000478585.5:n.194+2839_194+2840del
ENST00000480232.5:n.155+2643_155+2644del
ENST00000480975.5:n.183+2839_183+2840del
ENST00000481039.5:n.56+3288_56+3289del
ENST00000481768.5:n.1324-3420_1324-3419del
ENST00000482112.5:n.259-3420_259-3419del
ENST00000484504.5:n.127+2839_127+2840del
ENST00000485673.5:n.426+2643_426+2644del
ENST00000488546.5:n.40+3374_40+3375del
ENST00000488652.5:n.212_213del
ENST00000490374.5:n.255-3420_255-3419del
ENST00000491348.5:n.534-3420_534-3419del
ENST00000492907.5:n.115_116del
ENST00000493744.5:n.233-3420_233-3419del
ENST00000604005.5:c.-39+2860_-39+2861del	ENSP00000474219.1:n.-39+2860_-39+2861del
NM_000516.4:c.139+327_139+328del	NP_000507.1:n.139+327_139+328del
NM_000516.5:c.139+327_139+328del	NP_000507.1:n.139+327_139+328del
NM_001077488.2:c.139+327_139+328del	NP_001070956.1:n.139+327_139+328del
NM_001077488.3:c.139+327_139+328del	NP_001070956.1:n.139+327_139+328del
NM_001077489.2:c.139+327_139+328del	NP_001070957.1:n.139+327_139+328del
NM_001077489.3:c.139+327_139+328del	NP_001070957.1:n.139+327_139+328del
NM_001077490.1:c.*1-3420_*1-3419del	NP_001070958.1:n.*1-3420_*1-3419del
NM_001077490.2:c.*1-3420_*1-3419del	NP_001070958.1:n.*1-3420_*1-3419del
NM_001309840.1:c.-39+2839_-39+2840del	NP_001296769.1:n.-39+2839_-39+2840del
NM_001309842.1:c.139+327_139+328del	NP_001296771.1:n.139+327_139+328del
NM_001309861.1:c.-38-3420_-38-3419del	NP_001296790.1:n.-38-3420_-38-3419del
NM_001309883.1:c.*159-3420_*159-3419del	NP_001296812.1:n.*159-3420_*159-3419del
NM_016592.2:c.*43-3420_*43-3419del	NP_057676.1:n.*43-3420_*43-3419del
NM_016592.3:c.*43-3420_*43-3419del	NP_057676.1:n.*43-3420_*43-3419del
NM_080425.2:c.2069-3420_2069-3419del	NP_536350.2:n.2069-3420_2069-3419del
NM_080425.3:c.2069-3420_2069-3419del	NP_536350.2:n.2069-3420_2069-3419del
NM_080426.2:c.139+327_139+328del	NP_536351.1:n.139+327_139+328del
NM_080426.3:c.139+327_139+328del	NP_536351.1:n.139+327_139+328del
NR_003259.1:c.-4294967067+2839_-4294967067+2840del
NR_132272.1:n.29_30del
NR_132273.1:n.406+3374_406+3375del
XM_017027812.2:c.2069-3420_2069-3419del	XP_016883301.1:n.2069-3420_2069-3419del
XM_017027813.2:c.2069-3420_2069-3419del	XP_016883302.1:n.2069-3420_2069-3419del
XM_017027814.2:c.2069-3420_2069-3419del	XP_016883303.1:n.2069-3420_2069-3419del
XM_017027815.1:c.44-3420_44-3419del	XP_016883304.1:n.44-3420_44-3419del
XM_017027816.1:c.-166+327_-166+328del	XP_016883305.1:n.-166+327_-166+328del
XM_017027817.1:c.-39+2839_-39+2840del	XP_016883306.1:n.-39+2839_-39+2840del
XM_017027818.2:c.-56_-55del	XP_016883307.1:n.-56_-55del
XM_017027819.1:c.-39+2860_-39+2861del	XP_016883308.1:n.-39+2860_-39+2861del
XM_017027821.1:c.*43-3420_*43-3419del	XP_016883310.1:n.*43-3420_*43-3419del
XM_017027822.1:c.*43-3420_*43-3419del	XP_016883311.1:n.*43-3420_*43-3419del
XM_024451872.1:c.44-3420_44-3419del	XP_024307640.1:n.44-3420_44-3419del
XM_024451873.1:c.-56_-55del	XP_024307641.1:n.-56_-55del
XM_024451875.1:c.-39+2860_-39+2861del	XP_024307643.1:n.-39+2860_-39+2861del
XR_002958471.1:n.764+327_764+328del
NM_000516.6:c.139+327_139+328del	NP_000507.1:n.139+327_139+328del
NM_001077488.4:c.139+327_139+328del	NP_001070956.1:n.139+327_139+328del
NM_001077489.4:c.139+327_139+328del	NP_001070957.1:n.139+327_139+328del
NM_001309840.2:c.-39+2839_-39+2840del	NP_001296769.1:n.-39+2839_-39+2840del
NM_001309842.2:c.139+327_139+328del	NP_001296771.1:n.139+327_139+328del
NM_001309861.2:c.-38-3420_-38-3419del	NP_001296790.1:n.-38-3420_-38-3419del
NM_016592.4:c.*43-3420_*43-3419del	NP_057676.1:n.*43-3420_*43-3419del
NM_080426.4:c.139+327_139+328del	NP_536351.1:n.139+327_139+328del
NR_132272.2:n.30_31del
NM_000516.7:c.139+327_139+328del MANE Select	NP_000507.1:n.139+327_139+328del
NM_001077488.5:c.139+327_139+328del	NP_001070956.1:n.139+327_139+328del
NM_001077490.3:c.*1-3420_*1-3419del	NP_001070958.1:n.*1-3420_*1-3419del
NM_016592.5:c.*43-3420_*43-3419del MANE Plus Clinical	NP_057676.1:n.*43-3420_*43-3419del
NM_080425.4:c.2069-3420_2069-3419del MANE Plus Clinical	NP_536350.2:n.2069-3420_2069-3419del