Canonical Allele Identifier: CA746044814

Gene: GNAS

Linked Data

• dbSNP Id: rs1240838240
• gnomAD v3: 20-58891945-C-CCCCCGCCCCGGGCGCGCGCT
• gnomAD v4: 20-58891945-C-CCCCCGCCCCGGGCGCGCGCT
• MyVariant Identifiers: chr20:g.57467000_57467001insCCCCGCCCCGGGCGCGCGCT (hg19) ; chr20:g.58891945_58891946insCCCCGCCCCGGGCGCGCGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891949_58891968dup , CM000682.2:g.58891949_58891968dup	GRCh38
NC_000020.10:g.57467004_57467023dup , CM000682.1:g.57467004_57467023dup	GRCh37
NC_000020.9:g.56900399_56900418dup	NCBI36
NG_016194.1:g.57210_57229dup
NG_016194.2:g.57210_57229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3663_2069-3644dup	ENSP00000265621.6:n.2069-3663_2069-3644dup
ENST00000419558.7:c.*43-3663_*43-3644dup	ENSP00000416234.2:n.*43-3663_*43-3644dup
ENST00000423897.7:c.2069-3663_2069-3644dup	ENSP00000412356.2:n.2069-3663_2069-3644dup
ENST00000453292.7:c.781-3663_781-3644dup	ENSP00000392000.2:n.781-3663_781-3644dup
ENST00000462499.6:c.-38-3663_-38-3644dup	ENSP00000499758.2:n.-38-3663_-38-3644dup
ENST00000464624.7:c.2160-3663_2160-3644dup	ENSP00000499607.2:n.2160-3663_2160-3644dup
ENST00000464788.6:c.-39+2736_-39+2755dup	ENSP00000499239.2:n.-39+2736_-39+2755dup
ENST00000467227.6:c.-38-3663_-38-3644dup	ENSP00000499681.2:n.-38-3663_-38-3644dup
ENST00000467321.6:c.-39+2903_-39+2922dup	ENSP00000499523.2:n.-39+2903_-39+2922dup
ENST00000468895.6:c.139+84_139+103dup	ENSP00000499551.2:n.139+84_139+103dup
ENST00000469431.6:c.-39+2543_-39+2562dup	ENSP00000499654.2:n.-39+2543_-39+2562dup
ENST00000470512.6:c.-39+2596_-39+2615dup	ENSP00000499552.2:n.-39+2596_-39+2615dup
ENST00000472183.6:c.-38-3663_-38-3644dup	ENSP00000499673.2:n.-38-3663_-38-3644dup
ENST00000478585.6:c.-39+2596_-39+2615dup	ENSP00000499762.2:n.-39+2596_-39+2615dup
ENST00000480232.6:c.-39+2400_-39+2419dup	ENSP00000499545.2:n.-39+2400_-39+2419dup
ENST00000481039.6:c.-39+3041_-39+3060dup	ENSP00000499767.2:n.-39+3041_-39+3060dup
ENST00000482112.6:c.-38-3663_-38-3644dup	ENSP00000499794.2:n.-38-3663_-38-3644dup
ENST00000485673.6:c.-39+2400_-39+2419dup	ENSP00000499334.2:n.-39+2400_-39+2419dup
ENST00000488546.6:c.-39+3131_-39+3150dup	ENSP00000499332.2:n.-39+3131_-39+3150dup
ENST00000604005.6:c.-39+2617_-39+2636dup	ENSP00000474219.2:n.-39+2617_-39+2636dup
ENST00000663479.2:c.-38-3663_-38-3644dup	ENSP00000499353.2:n.-38-3663_-38-3644dup
ENST00000667293.2:c.-39+3045_-39+3064dup	ENSP00000499293.2:n.-39+3045_-39+3064dup
ENST00000676826.2:c.2069-3663_2069-3644dup	ENSP00000504675.2:n.2069-3663_2069-3644dup
ENST00000682803.1:c.-366+84_-366+103dup	ENSP00000507069.1:n.-366+84_-366+103dup
ENST00000683015.1:c.909+1160_909+1179dup	ENSP00000506815.1:n.909+1160_909+1179dup
ENST00000306090.12:c.44-3663_44-3644dup	ENSP00000304472.12:n.44-3663_44-3644dup
ENST00000338783.7:c.139+84_139+103dup	ENSP00000345971.7:n.139+84_139+103dup
ENST00000349036.8:c.2069-3663_2069-3644dup	ENSP00000265621.5:n.2069-3663_2069-3644dup
ENST00000354359.12:c.139+84_139+103dup	ENSP00000346328.7:n.139+84_139+103dup
ENST00000371085.8:c.139+84_139+103dup MANE Select	ENSP00000360126.3:n.139+84_139+103dup
ENST00000371100.9:c.2069-3663_2069-3644dup MANE Plus Clinical	ENSP00000360141.3:n.2069-3663_2069-3644dup
ENST00000419558.6:c.*43-3663_*43-3644dup	ENSP00000416234.2:n.*43-3663_*43-3644dup
ENST00000423897.6:c.2069-3663_2069-3644dup	ENSP00000412356.2:n.2069-3663_2069-3644dup
ENST00000453292.6:c.*43-3663_*43-3644dup	ENSP00000392000.2:n.*43-3663_*43-3644dup
ENST00000461152.6:c.909+1160_909+1179dup	ENSP00000499274.1:n.909+1160_909+1179dup
ENST00000481768.6:c.2227-3663_2227-3644dup	ENSP00000499644.2:n.2227-3663_2227-3644dup
ENST00000490374.6:n.223-3663_223-3644dup
ENST00000657090.1:c.-38-3663_-38-3644dup	ENSP00000499380.1:n.-38-3663_-38-3644dup
ENST00000663479.1:c.-38-3663_-38-3644dup	ENSP00000499353.1:n.-38-3663_-38-3644dup
ENST00000667293.1:c.11-3663_11-3644dup	ENSP00000499293.1:n.11-3663_11-3644dup
ENST00000676826.1:c.2069-3663_2069-3644dup	ENSP00000504675.1:n.2069-3663_2069-3644dup
ENST00000265620.11:c.139+84_139+103dup	ENSP00000265620.7:n.139+84_139+103dup
ENST00000306090.11:c.93+130_93+149dup	ENSP00000304472.11:n.93+130_93+149dup
ENST00000313949.11:c.*43-3663_*43-3644dup	ENSP00000323571.7:n.*43-3663_*43-3644dup
ENST00000338783.6:c.106+84_106+103dup	ENSP00000345971.6:n.106+84_106+103dup
ENST00000349036.7:c.188-3663_188-3644dup	ENSP00000265621.4:n.188-3663_188-3644dup
ENST00000354359.11:c.139+84_139+103dup	ENSP00000346328.7:n.139+84_139+103dup
ENST00000371075.7:c.*43-3663_*43-3644dup MANE Plus Clinical	ENSP00000360115.3:n.*43-3663_*43-3644dup
ENST00000371081.5:c.139+84_139+103dup	ENSP00000360122.1:n.139+84_139+103dup
ENST00000371085.7:c.139+84_139+103dup	ENSP00000360126.3:n.139+84_139+103dup
ENST00000371095.7:c.139+84_139+103dup	ENSP00000360136.3:n.139+84_139+103dup
ENST00000371098.6:c.*43-3663_*43-3644dup	ENSP00000360139.2:n.*43-3663_*43-3644dup
ENST00000371100.8:c.2069-3663_2069-3644dup	ENSP00000360141.3:n.2069-3663_2069-3644dup
ENST00000371102.8:c.2069-3663_2069-3644dup	ENSP00000360143.4:n.2069-3663_2069-3644dup
ENST00000419558.5:c.384-3663_384-3644dup
ENST00000423897.5:c.157-3663_157-3644dup
ENST00000450130.5:c.228-3663_228-3644dup
ENST00000453292.5:c.544-3663_544-3644dup	ENSP00000392000.1:n.544-3663_544-3644dup
ENST00000461152.5:n.147+1160_147+1179dup
ENST00000462499.5:n.259-3663_259-3644dup
ENST00000464624.6:n.2355+84_2355+103dup
ENST00000464788.5:n.67+2736_67+2755dup
ENST00000464960.5:n.406+3131_406+3150dup
ENST00000467227.5:n.123-3663_123-3644dup
ENST00000467321.5:n.154+2903_154+2922dup
ENST00000468895.5:n.50+3041_50+3060dup
ENST00000469431.5:n.256+2543_256+2562dup
ENST00000470512.5:n.210+2596_210+2615dup
ENST00000472183.5:n.392-3663_392-3644dup
ENST00000477931.5:n.254+2596_254+2615dup
ENST00000478585.5:n.194+2596_194+2615dup
ENST00000480232.5:n.155+2400_155+2419dup
ENST00000480975.5:n.183+2596_183+2615dup
ENST00000481039.5:n.56+3045_56+3064dup
ENST00000481768.5:n.1324-3663_1324-3644dup
ENST00000482112.5:n.259-3663_259-3644dup
ENST00000484504.5:n.127+2596_127+2615dup
ENST00000485673.5:n.426+2400_426+2419dup
ENST00000488546.5:n.40+3131_40+3150dup
ENST00000490374.5:n.255-3663_255-3644dup
ENST00000491348.5:n.534-3663_534-3644dup
ENST00000493744.5:n.233-3663_233-3644dup
ENST00000604005.5:c.-39+2617_-39+2636dup	ENSP00000474219.1:n.-39+2617_-39+2636dup
NM_000516.4:c.139+84_139+103dup	NP_000507.1:n.139+84_139+103dup
NM_000516.5:c.139+84_139+103dup	NP_000507.1:n.139+84_139+103dup
NM_001077488.2:c.139+84_139+103dup	NP_001070956.1:n.139+84_139+103dup
NM_001077488.3:c.139+84_139+103dup	NP_001070956.1:n.139+84_139+103dup
NM_001077489.2:c.139+84_139+103dup	NP_001070957.1:n.139+84_139+103dup
NM_001077489.3:c.139+84_139+103dup	NP_001070957.1:n.139+84_139+103dup
NM_001077490.1:c.*1-3663_*1-3644dup	NP_001070958.1:n.*1-3663_*1-3644dup
NM_001077490.2:c.*1-3663_*1-3644dup	NP_001070958.1:n.*1-3663_*1-3644dup
NM_001309840.1:c.-39+2596_-39+2615dup	NP_001296769.1:n.-39+2596_-39+2615dup
NM_001309842.1:c.139+84_139+103dup	NP_001296771.1:n.139+84_139+103dup
NM_001309861.1:c.-38-3663_-38-3644dup	NP_001296790.1:n.-38-3663_-38-3644dup
NM_001309883.1:c.*159-3663_*159-3644dup	NP_001296812.1:n.*159-3663_*159-3644dup
NM_016592.2:c.*43-3663_*43-3644dup	NP_057676.1:n.*43-3663_*43-3644dup
NM_016592.3:c.*43-3663_*43-3644dup	NP_057676.1:n.*43-3663_*43-3644dup
NM_080425.2:c.2069-3663_2069-3644dup	NP_536350.2:n.2069-3663_2069-3644dup
NM_080425.3:c.2069-3663_2069-3644dup	NP_536350.2:n.2069-3663_2069-3644dup
NM_080426.2:c.139+84_139+103dup	NP_536351.1:n.139+84_139+103dup
NM_080426.3:c.139+84_139+103dup	NP_536351.1:n.139+84_139+103dup
NR_003259.1:c.-4294967067+2596_-4294967067+2615dup
NR_132273.1:n.406+3131_406+3150dup
XM_017027812.2:c.2069-3663_2069-3644dup	XP_016883301.1:n.2069-3663_2069-3644dup
XM_017027813.2:c.2069-3663_2069-3644dup	XP_016883302.1:n.2069-3663_2069-3644dup
XM_017027814.2:c.2069-3663_2069-3644dup	XP_016883303.1:n.2069-3663_2069-3644dup
XM_017027815.1:c.44-3663_44-3644dup	XP_016883304.1:n.44-3663_44-3644dup
XM_017027816.1:c.-166+84_-166+103dup	XP_016883305.1:n.-166+84_-166+103dup
XM_017027817.1:c.-39+2596_-39+2615dup	XP_016883306.1:n.-39+2596_-39+2615dup
XM_017027819.1:c.-39+2617_-39+2636dup	XP_016883308.1:n.-39+2617_-39+2636dup
XM_017027821.1:c.*43-3663_*43-3644dup	XP_016883310.1:n.*43-3663_*43-3644dup
XM_017027822.1:c.*43-3663_*43-3644dup	XP_016883311.1:n.*43-3663_*43-3644dup
XM_024451872.1:c.44-3663_44-3644dup	XP_024307640.1:n.44-3663_44-3644dup
XM_024451875.1:c.-39+2617_-39+2636dup	XP_024307643.1:n.-39+2617_-39+2636dup
XR_002958471.1:n.764+84_764+103dup
NM_000516.6:c.139+84_139+103dup	NP_000507.1:n.139+84_139+103dup
NM_001077488.4:c.139+84_139+103dup	NP_001070956.1:n.139+84_139+103dup
NM_001077489.4:c.139+84_139+103dup	NP_001070957.1:n.139+84_139+103dup
NM_001309840.2:c.-39+2596_-39+2615dup	NP_001296769.1:n.-39+2596_-39+2615dup
NM_001309842.2:c.139+84_139+103dup	NP_001296771.1:n.139+84_139+103dup
NM_001309861.2:c.-38-3663_-38-3644dup	NP_001296790.1:n.-38-3663_-38-3644dup
NM_016592.4:c.*43-3663_*43-3644dup	NP_057676.1:n.*43-3663_*43-3644dup
NM_080426.4:c.139+84_139+103dup	NP_536351.1:n.139+84_139+103dup
NM_000516.7:c.139+84_139+103dup MANE Select	NP_000507.1:n.139+84_139+103dup
NM_001077488.5:c.139+84_139+103dup	NP_001070956.1:n.139+84_139+103dup
NM_001077490.3:c.*1-3663_*1-3644dup	NP_001070958.1:n.*1-3663_*1-3644dup
NM_016592.5:c.*43-3663_*43-3644dup MANE Plus Clinical	NP_057676.1:n.*43-3663_*43-3644dup
NM_080425.4:c.2069-3663_2069-3644dup MANE Plus Clinical	NP_536350.2:n.2069-3663_2069-3644dup