Canonical Allele Identifier: CA316321093

Gene: GNAS

Linked Data

• dbSNP Id: rs201484195
• gnomAD v2: 20-57467209-CCTCTTTCT-C
• gnomAD v3: 20-58892154-CCTCTTTCT-C
• gnomAD v4: 20-58892154-CCTCTTTCT-C
• MyVariant Identifiers: chr20:g.57467210_57467217del (hg19) ; chr20:g.58892155_58892162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58892169_58892176del , CM000682.2:g.58892169_58892176del	GRCh38
NC_000020.10:g.57467224_57467231del , CM000682.1:g.57467224_57467231del	GRCh37
NC_000020.9:g.56900619_56900626del	NCBI36
NG_016194.1:g.57430_57437del
NG_016194.2:g.57430_57437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3443_2069-3436del	ENSP00000265621.6:n.2069-3443_2069-3436del
ENST00000419558.7:c.*43-3443_*43-3436del	ENSP00000416234.2:n.*43-3443_*43-3436del
ENST00000423897.7:c.2069-3443_2069-3436del	ENSP00000412356.2:n.2069-3443_2069-3436del
ENST00000453292.7:c.781-3443_781-3436del	ENSP00000392000.2:n.781-3443_781-3436del
ENST00000462499.6:c.-38-3443_-38-3436del	ENSP00000499758.2:n.-38-3443_-38-3436del
ENST00000464624.7:c.2160-3443_2160-3436del	ENSP00000499607.2:n.2160-3443_2160-3436del
ENST00000464788.6:c.-39+2956_-39+2963del	ENSP00000499239.2:n.-39+2956_-39+2963del
ENST00000467227.6:c.-38-3443_-38-3436del	ENSP00000499681.2:n.-38-3443_-38-3436del
ENST00000467321.6:c.-39+3123_-39+3130del	ENSP00000499523.2:n.-39+3123_-39+3130del
ENST00000468895.6:c.139+304_139+311del	ENSP00000499551.2:n.139+304_139+311del
ENST00000469431.6:c.-39+2763_-39+2770del	ENSP00000499654.2:n.-39+2763_-39+2770del
ENST00000470512.6:c.-39+2816_-39+2823del	ENSP00000499552.2:n.-39+2816_-39+2823del
ENST00000472183.6:c.-38-3443_-38-3436del	ENSP00000499673.2:n.-38-3443_-38-3436del
ENST00000476935.6:c.-79_-72del	ENSP00000499409.2:n.-79_-72del
ENST00000478585.6:c.-39+2816_-39+2823del	ENSP00000499762.2:n.-39+2816_-39+2823del
ENST00000480232.6:c.-39+2620_-39+2627del	ENSP00000499545.2:n.-39+2620_-39+2627del
ENST00000481039.6:c.-39+3261_-39+3268del	ENSP00000499767.2:n.-39+3261_-39+3268del
ENST00000482112.6:c.-38-3443_-38-3436del	ENSP00000499794.2:n.-38-3443_-38-3436del
ENST00000485673.6:c.-39+2620_-39+2627del	ENSP00000499334.2:n.-39+2620_-39+2627del
ENST00000488546.6:c.-39+3351_-39+3358del	ENSP00000499332.2:n.-39+3351_-39+3358del
ENST00000488652.6:c.-79_-72del	ENSP00000499435.2:n.-79_-72del
ENST00000492907.6:c.-79_-72del	ENSP00000499443.2:n.-79_-72del
ENST00000604005.6:c.-39+2837_-39+2844del	ENSP00000474219.2:n.-39+2837_-39+2844del
ENST00000663479.2:c.-38-3443_-38-3436del	ENSP00000499353.2:n.-38-3443_-38-3436del
ENST00000667293.2:c.-39+3265_-39+3272del	ENSP00000499293.2:n.-39+3265_-39+3272del
ENST00000676826.2:c.2069-3443_2069-3436del	ENSP00000504675.2:n.2069-3443_2069-3436del
ENST00000682803.1:c.-366+304_-366+311del	ENSP00000507069.1:n.-366+304_-366+311del
ENST00000683015.1:c.909+1380_909+1387del	ENSP00000506815.1:n.909+1380_909+1387del
ENST00000306090.12:c.44-3443_44-3436del	ENSP00000304472.12:n.44-3443_44-3436del
ENST00000338783.7:c.139+304_139+311del	ENSP00000345971.7:n.139+304_139+311del
ENST00000349036.8:c.2069-3443_2069-3436del	ENSP00000265621.5:n.2069-3443_2069-3436del
ENST00000354359.12:c.139+304_139+311del	ENSP00000346328.7:n.139+304_139+311del
ENST00000371085.8:c.139+304_139+311del MANE Select	ENSP00000360126.3:n.139+304_139+311del
ENST00000371100.9:c.2069-3443_2069-3436del MANE Plus Clinical	ENSP00000360141.3:n.2069-3443_2069-3436del
ENST00000419558.6:c.*43-3443_*43-3436del	ENSP00000416234.2:n.*43-3443_*43-3436del
ENST00000423897.6:c.2069-3443_2069-3436del	ENSP00000412356.2:n.2069-3443_2069-3436del
ENST00000453292.6:c.*43-3443_*43-3436del	ENSP00000392000.2:n.*43-3443_*43-3436del
ENST00000461152.6:c.909+1380_909+1387del	ENSP00000499274.1:n.909+1380_909+1387del
ENST00000481768.6:c.2227-3443_2227-3436del	ENSP00000499644.2:n.2227-3443_2227-3436del
ENST00000490374.6:n.223-3443_223-3436del
ENST00000657090.1:c.-38-3443_-38-3436del	ENSP00000499380.1:n.-38-3443_-38-3436del
ENST00000663479.1:c.-38-3443_-38-3436del	ENSP00000499353.1:n.-38-3443_-38-3436del
ENST00000667293.1:c.11-3443_11-3436del	ENSP00000499293.1:n.11-3443_11-3436del
ENST00000676826.1:c.2069-3443_2069-3436del	ENSP00000504675.1:n.2069-3443_2069-3436del
ENST00000265620.11:c.139+304_139+311del	ENSP00000265620.7:n.139+304_139+311del
ENST00000306090.11:c.93+350_93+357del	ENSP00000304472.11:n.93+350_93+357del
ENST00000313949.11:c.*43-3443_*43-3436del	ENSP00000323571.7:n.*43-3443_*43-3436del
ENST00000338783.6:c.106+304_106+311del	ENSP00000345971.6:n.106+304_106+311del
ENST00000349036.7:c.188-3443_188-3436del	ENSP00000265621.4:n.188-3443_188-3436del
ENST00000354359.11:c.139+304_139+311del	ENSP00000346328.7:n.139+304_139+311del
ENST00000371075.7:c.*43-3443_*43-3436del MANE Plus Clinical	ENSP00000360115.3:n.*43-3443_*43-3436del
ENST00000371081.5:c.139+304_139+311del	ENSP00000360122.1:n.139+304_139+311del
ENST00000371085.7:c.139+304_139+311del	ENSP00000360126.3:n.139+304_139+311del
ENST00000371095.7:c.139+304_139+311del	ENSP00000360136.3:n.139+304_139+311del
ENST00000371098.6:c.*43-3443_*43-3436del	ENSP00000360139.2:n.*43-3443_*43-3436del
ENST00000371100.8:c.2069-3443_2069-3436del	ENSP00000360141.3:n.2069-3443_2069-3436del
ENST00000371102.8:c.2069-3443_2069-3436del	ENSP00000360143.4:n.2069-3443_2069-3436del
ENST00000419558.5:c.384-3443_384-3436del
ENST00000423897.5:c.157-3443_157-3436del
ENST00000450130.5:c.228-3443_228-3436del
ENST00000453292.5:c.544-3443_544-3436del	ENSP00000392000.1:n.544-3443_544-3436del
ENST00000461152.5:n.147+1380_147+1387del
ENST00000462499.5:n.259-3443_259-3436del
ENST00000464624.6:n.2355+304_2355+311del
ENST00000464788.5:n.67+2956_67+2963del
ENST00000464960.5:n.406+3351_406+3358del
ENST00000467227.5:n.123-3443_123-3436del
ENST00000467321.5:n.154+3123_154+3130del
ENST00000468895.5:n.50+3261_50+3268del
ENST00000469431.5:n.256+2763_256+2770del
ENST00000470512.5:n.210+2816_210+2823del
ENST00000472183.5:n.392-3443_392-3436del
ENST00000476935.5:n.133_140del
ENST00000477931.5:n.254+2816_254+2823del
ENST00000478585.5:n.194+2816_194+2823del
ENST00000480232.5:n.155+2620_155+2627del
ENST00000480975.5:n.183+2816_183+2823del
ENST00000481039.5:n.56+3265_56+3272del
ENST00000481768.5:n.1324-3443_1324-3436del
ENST00000482112.5:n.259-3443_259-3436del
ENST00000484504.5:n.127+2816_127+2823del
ENST00000485673.5:n.426+2620_426+2627del
ENST00000488546.5:n.40+3351_40+3358del
ENST00000488652.5:n.189_196del
ENST00000490374.5:n.255-3443_255-3436del
ENST00000491348.5:n.534-3443_534-3436del
ENST00000492907.5:n.92_99del
ENST00000493744.5:n.233-3443_233-3436del
ENST00000604005.5:c.-39+2837_-39+2844del	ENSP00000474219.1:n.-39+2837_-39+2844del
NM_000516.4:c.139+304_139+311del	NP_000507.1:n.139+304_139+311del
NM_000516.5:c.139+304_139+311del	NP_000507.1:n.139+304_139+311del
NM_001077488.2:c.139+304_139+311del	NP_001070956.1:n.139+304_139+311del
NM_001077488.3:c.139+304_139+311del	NP_001070956.1:n.139+304_139+311del
NM_001077489.2:c.139+304_139+311del	NP_001070957.1:n.139+304_139+311del
NM_001077489.3:c.139+304_139+311del	NP_001070957.1:n.139+304_139+311del
NM_001077490.1:c.*1-3443_*1-3436del	NP_001070958.1:n.*1-3443_*1-3436del
NM_001077490.2:c.*1-3443_*1-3436del	NP_001070958.1:n.*1-3443_*1-3436del
NM_001309840.1:c.-39+2816_-39+2823del	NP_001296769.1:n.-39+2816_-39+2823del
NM_001309842.1:c.139+304_139+311del	NP_001296771.1:n.139+304_139+311del
NM_001309861.1:c.-38-3443_-38-3436del	NP_001296790.1:n.-38-3443_-38-3436del
NM_001309883.1:c.*159-3443_*159-3436del	NP_001296812.1:n.*159-3443_*159-3436del
NM_016592.2:c.*43-3443_*43-3436del	NP_057676.1:n.*43-3443_*43-3436del
NM_016592.3:c.*43-3443_*43-3436del	NP_057676.1:n.*43-3443_*43-3436del
NM_080425.2:c.2069-3443_2069-3436del	NP_536350.2:n.2069-3443_2069-3436del
NM_080425.3:c.2069-3443_2069-3436del	NP_536350.2:n.2069-3443_2069-3436del
NM_080426.2:c.139+304_139+311del	NP_536351.1:n.139+304_139+311del
NM_080426.3:c.139+304_139+311del	NP_536351.1:n.139+304_139+311del
NR_003259.1:c.-4294967067+2816_-4294967067+2823del
NR_132273.1:n.406+3351_406+3358del
XM_017027812.2:c.2069-3443_2069-3436del	XP_016883301.1:n.2069-3443_2069-3436del
XM_017027813.2:c.2069-3443_2069-3436del	XP_016883302.1:n.2069-3443_2069-3436del
XM_017027814.2:c.2069-3443_2069-3436del	XP_016883303.1:n.2069-3443_2069-3436del
XM_017027815.1:c.44-3443_44-3436del	XP_016883304.1:n.44-3443_44-3436del
XM_017027816.1:c.-166+304_-166+311del	XP_016883305.1:n.-166+304_-166+311del
XM_017027817.1:c.-39+2816_-39+2823del	XP_016883306.1:n.-39+2816_-39+2823del
XM_017027818.2:c.-79_-72del	XP_016883307.1:n.-79_-72del
XM_017027819.1:c.-39+2837_-39+2844del	XP_016883308.1:n.-39+2837_-39+2844del
XM_017027821.1:c.*43-3443_*43-3436del	XP_016883310.1:n.*43-3443_*43-3436del
XM_017027822.1:c.*43-3443_*43-3436del	XP_016883311.1:n.*43-3443_*43-3436del
XM_024451872.1:c.44-3443_44-3436del	XP_024307640.1:n.44-3443_44-3436del
XM_024451873.1:c.-79_-72del	XP_024307641.1:n.-79_-72del
XM_024451875.1:c.-39+2837_-39+2844del	XP_024307643.1:n.-39+2837_-39+2844del
XR_002958471.1:n.764+304_764+311del
NM_000516.6:c.139+304_139+311del	NP_000507.1:n.139+304_139+311del
NM_001077488.4:c.139+304_139+311del	NP_001070956.1:n.139+304_139+311del
NM_001077489.4:c.139+304_139+311del	NP_001070957.1:n.139+304_139+311del
NM_001309840.2:c.-39+2816_-39+2823del	NP_001296769.1:n.-39+2816_-39+2823del
NM_001309842.2:c.139+304_139+311del	NP_001296771.1:n.139+304_139+311del
NM_001309861.2:c.-38-3443_-38-3436del	NP_001296790.1:n.-38-3443_-38-3436del
NM_016592.4:c.*43-3443_*43-3436del	NP_057676.1:n.*43-3443_*43-3436del
NM_080426.4:c.139+304_139+311del	NP_536351.1:n.139+304_139+311del
NM_000516.7:c.139+304_139+311del MANE Select	NP_000507.1:n.139+304_139+311del
NM_001077488.5:c.139+304_139+311del	NP_001070956.1:n.139+304_139+311del
NM_001077490.3:c.*1-3443_*1-3436del	NP_001070958.1:n.*1-3443_*1-3436del
NM_016592.5:c.*43-3443_*43-3436del MANE Plus Clinical	NP_057676.1:n.*43-3443_*43-3436del
NM_080425.4:c.2069-3443_2069-3436del MANE Plus Clinical	NP_536350.2:n.2069-3443_2069-3436del