Canonical Allele Identifier: CA636225155

Gene: GNAS

Linked Data

• dbSNP Id: rs1300387980
• gnomAD v2: 20-57467046-CTCTG-C
• gnomAD v3: 20-58891991-CTCTG-C
• gnomAD v4: 20-58891991-CTCTG-C
• MyVariant Identifiers: chr20:g.57467047_57467050del (hg19) ; chr20:g.58891992_58891995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891997_58892000del , CM000682.2:g.58891997_58892000del	GRCh38
NC_000020.10:g.57467052_57467055del , CM000682.1:g.57467052_57467055del	GRCh37
NC_000020.9:g.56900447_56900450del	NCBI36
NG_016194.1:g.57258_57261del
NG_016194.2:g.57258_57261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3615_2069-3612del	ENSP00000265621.6:n.2069-3615_2069-3612del
ENST00000419558.7:c.*43-3615_*43-3612del	ENSP00000416234.2:n.*43-3615_*43-3612del
ENST00000423897.7:c.2069-3615_2069-3612del	ENSP00000412356.2:n.2069-3615_2069-3612del
ENST00000453292.7:c.781-3615_781-3612del	ENSP00000392000.2:n.781-3615_781-3612del
ENST00000462499.6:c.-38-3615_-38-3612del	ENSP00000499758.2:n.-38-3615_-38-3612del
ENST00000464624.7:c.2160-3615_2160-3612del	ENSP00000499607.2:n.2160-3615_2160-3612del
ENST00000464788.6:c.-39+2784_-39+2787del	ENSP00000499239.2:n.-39+2784_-39+2787del
ENST00000467227.6:c.-38-3615_-38-3612del	ENSP00000499681.2:n.-38-3615_-38-3612del
ENST00000467321.6:c.-39+2951_-39+2954del	ENSP00000499523.2:n.-39+2951_-39+2954del
ENST00000468895.6:c.139+132_139+135del	ENSP00000499551.2:n.139+132_139+135del
ENST00000469431.6:c.-39+2591_-39+2594del	ENSP00000499654.2:n.-39+2591_-39+2594del
ENST00000470512.6:c.-39+2644_-39+2647del	ENSP00000499552.2:n.-39+2644_-39+2647del
ENST00000472183.6:c.-38-3615_-38-3612del	ENSP00000499673.2:n.-38-3615_-38-3612del
ENST00000478585.6:c.-39+2644_-39+2647del	ENSP00000499762.2:n.-39+2644_-39+2647del
ENST00000480232.6:c.-39+2448_-39+2451del	ENSP00000499545.2:n.-39+2448_-39+2451del
ENST00000481039.6:c.-39+3089_-39+3092del	ENSP00000499767.2:n.-39+3089_-39+3092del
ENST00000482112.6:c.-38-3615_-38-3612del	ENSP00000499794.2:n.-38-3615_-38-3612del
ENST00000485673.6:c.-39+2448_-39+2451del	ENSP00000499334.2:n.-39+2448_-39+2451del
ENST00000488546.6:c.-39+3179_-39+3182del	ENSP00000499332.2:n.-39+3179_-39+3182del
ENST00000488652.6:c.-251_-248del	ENSP00000499435.2:n.-251_-248del
ENST00000604005.6:c.-39+2665_-39+2668del	ENSP00000474219.2:n.-39+2665_-39+2668del
ENST00000663479.2:c.-38-3615_-38-3612del	ENSP00000499353.2:n.-38-3615_-38-3612del
ENST00000667293.2:c.-39+3093_-39+3096del	ENSP00000499293.2:n.-39+3093_-39+3096del
ENST00000676826.2:c.2069-3615_2069-3612del	ENSP00000504675.2:n.2069-3615_2069-3612del
ENST00000682803.1:c.-366+132_-366+135del	ENSP00000507069.1:n.-366+132_-366+135del
ENST00000683015.1:c.909+1208_909+1211del	ENSP00000506815.1:n.909+1208_909+1211del
ENST00000306090.12:c.44-3615_44-3612del	ENSP00000304472.12:n.44-3615_44-3612del
ENST00000338783.7:c.139+132_139+135del	ENSP00000345971.7:n.139+132_139+135del
ENST00000349036.8:c.2069-3615_2069-3612del	ENSP00000265621.5:n.2069-3615_2069-3612del
ENST00000354359.12:c.139+132_139+135del	ENSP00000346328.7:n.139+132_139+135del
ENST00000371085.8:c.139+132_139+135del MANE Select	ENSP00000360126.3:n.139+132_139+135del
ENST00000371100.9:c.2069-3615_2069-3612del MANE Plus Clinical	ENSP00000360141.3:n.2069-3615_2069-3612del
ENST00000419558.6:c.*43-3615_*43-3612del	ENSP00000416234.2:n.*43-3615_*43-3612del
ENST00000423897.6:c.2069-3615_2069-3612del	ENSP00000412356.2:n.2069-3615_2069-3612del
ENST00000453292.6:c.*43-3615_*43-3612del	ENSP00000392000.2:n.*43-3615_*43-3612del
ENST00000461152.6:c.909+1208_909+1211del	ENSP00000499274.1:n.909+1208_909+1211del
ENST00000481768.6:c.2227-3615_2227-3612del	ENSP00000499644.2:n.2227-3615_2227-3612del
ENST00000490374.6:n.223-3615_223-3612del
ENST00000657090.1:c.-38-3615_-38-3612del	ENSP00000499380.1:n.-38-3615_-38-3612del
ENST00000663479.1:c.-38-3615_-38-3612del	ENSP00000499353.1:n.-38-3615_-38-3612del
ENST00000667293.1:c.11-3615_11-3612del	ENSP00000499293.1:n.11-3615_11-3612del
ENST00000676826.1:c.2069-3615_2069-3612del	ENSP00000504675.1:n.2069-3615_2069-3612del
ENST00000265620.11:c.139+132_139+135del	ENSP00000265620.7:n.139+132_139+135del
ENST00000306090.11:c.93+178_93+181del	ENSP00000304472.11:n.93+178_93+181del
ENST00000313949.11:c.*43-3615_*43-3612del	ENSP00000323571.7:n.*43-3615_*43-3612del
ENST00000338783.6:c.106+132_106+135del	ENSP00000345971.6:n.106+132_106+135del
ENST00000349036.7:c.188-3615_188-3612del	ENSP00000265621.4:n.188-3615_188-3612del
ENST00000354359.11:c.139+132_139+135del	ENSP00000346328.7:n.139+132_139+135del
ENST00000371075.7:c.*43-3615_*43-3612del MANE Plus Clinical	ENSP00000360115.3:n.*43-3615_*43-3612del
ENST00000371081.5:c.139+132_139+135del	ENSP00000360122.1:n.139+132_139+135del
ENST00000371085.7:c.139+132_139+135del	ENSP00000360126.3:n.139+132_139+135del
ENST00000371095.7:c.139+132_139+135del	ENSP00000360136.3:n.139+132_139+135del
ENST00000371098.6:c.*43-3615_*43-3612del	ENSP00000360139.2:n.*43-3615_*43-3612del
ENST00000371100.8:c.2069-3615_2069-3612del	ENSP00000360141.3:n.2069-3615_2069-3612del
ENST00000371102.8:c.2069-3615_2069-3612del	ENSP00000360143.4:n.2069-3615_2069-3612del
ENST00000419558.5:c.384-3615_384-3612del
ENST00000423897.5:c.157-3615_157-3612del
ENST00000450130.5:c.228-3615_228-3612del
ENST00000453292.5:c.544-3615_544-3612del	ENSP00000392000.1:n.544-3615_544-3612del
ENST00000461152.5:n.147+1208_147+1211del
ENST00000462499.5:n.259-3615_259-3612del
ENST00000464624.6:n.2355+132_2355+135del
ENST00000464788.5:n.67+2784_67+2787del
ENST00000464960.5:n.406+3179_406+3182del
ENST00000467227.5:n.123-3615_123-3612del
ENST00000467321.5:n.154+2951_154+2954del
ENST00000468895.5:n.50+3089_50+3092del
ENST00000469431.5:n.256+2591_256+2594del
ENST00000470512.5:n.210+2644_210+2647del
ENST00000472183.5:n.392-3615_392-3612del
ENST00000477931.5:n.254+2644_254+2647del
ENST00000478585.5:n.194+2644_194+2647del
ENST00000480232.5:n.155+2448_155+2451del
ENST00000480975.5:n.183+2644_183+2647del
ENST00000481039.5:n.56+3093_56+3096del
ENST00000481768.5:n.1324-3615_1324-3612del
ENST00000482112.5:n.259-3615_259-3612del
ENST00000484504.5:n.127+2644_127+2647del
ENST00000485673.5:n.426+2448_426+2451del
ENST00000488546.5:n.40+3179_40+3182del
ENST00000488652.5:n.17_20del
ENST00000490374.5:n.255-3615_255-3612del
ENST00000491348.5:n.534-3615_534-3612del
ENST00000493744.5:n.233-3615_233-3612del
ENST00000604005.5:c.-39+2665_-39+2668del	ENSP00000474219.1:n.-39+2665_-39+2668del
NM_000516.4:c.139+132_139+135del	NP_000507.1:n.139+132_139+135del
NM_000516.5:c.139+132_139+135del	NP_000507.1:n.139+132_139+135del
NM_001077488.2:c.139+132_139+135del	NP_001070956.1:n.139+132_139+135del
NM_001077488.3:c.139+132_139+135del	NP_001070956.1:n.139+132_139+135del
NM_001077489.2:c.139+132_139+135del	NP_001070957.1:n.139+132_139+135del
NM_001077489.3:c.139+132_139+135del	NP_001070957.1:n.139+132_139+135del
NM_001077490.1:c.*1-3615_*1-3612del	NP_001070958.1:n.*1-3615_*1-3612del
NM_001077490.2:c.*1-3615_*1-3612del	NP_001070958.1:n.*1-3615_*1-3612del
NM_001309840.1:c.-39+2644_-39+2647del	NP_001296769.1:n.-39+2644_-39+2647del
NM_001309842.1:c.139+132_139+135del	NP_001296771.1:n.139+132_139+135del
NM_001309861.1:c.-38-3615_-38-3612del	NP_001296790.1:n.-38-3615_-38-3612del
NM_001309883.1:c.*159-3615_*159-3612del	NP_001296812.1:n.*159-3615_*159-3612del
NM_016592.2:c.*43-3615_*43-3612del	NP_057676.1:n.*43-3615_*43-3612del
NM_016592.3:c.*43-3615_*43-3612del	NP_057676.1:n.*43-3615_*43-3612del
NM_080425.2:c.2069-3615_2069-3612del	NP_536350.2:n.2069-3615_2069-3612del
NM_080425.3:c.2069-3615_2069-3612del	NP_536350.2:n.2069-3615_2069-3612del
NM_080426.2:c.139+132_139+135del	NP_536351.1:n.139+132_139+135del
NM_080426.3:c.139+132_139+135del	NP_536351.1:n.139+132_139+135del
NR_003259.1:c.-4294967067+2644_-4294967067+2647del
NR_132273.1:n.406+3179_406+3182del
XM_017027812.2:c.2069-3615_2069-3612del	XP_016883301.1:n.2069-3615_2069-3612del
XM_017027813.2:c.2069-3615_2069-3612del	XP_016883302.1:n.2069-3615_2069-3612del
XM_017027814.2:c.2069-3615_2069-3612del	XP_016883303.1:n.2069-3615_2069-3612del
XM_017027815.1:c.44-3615_44-3612del	XP_016883304.1:n.44-3615_44-3612del
XM_017027816.1:c.-166+132_-166+135del	XP_016883305.1:n.-166+132_-166+135del
XM_017027817.1:c.-39+2644_-39+2647del	XP_016883306.1:n.-39+2644_-39+2647del
XM_017027819.1:c.-39+2665_-39+2668del	XP_016883308.1:n.-39+2665_-39+2668del
XM_017027821.1:c.*43-3615_*43-3612del	XP_016883310.1:n.*43-3615_*43-3612del
XM_017027822.1:c.*43-3615_*43-3612del	XP_016883311.1:n.*43-3615_*43-3612del
XM_024451872.1:c.44-3615_44-3612del	XP_024307640.1:n.44-3615_44-3612del
XM_024451875.1:c.-39+2665_-39+2668del	XP_024307643.1:n.-39+2665_-39+2668del
XR_002958471.1:n.764+132_764+135del
NM_000516.6:c.139+132_139+135del	NP_000507.1:n.139+132_139+135del
NM_001077488.4:c.139+132_139+135del	NP_001070956.1:n.139+132_139+135del
NM_001077489.4:c.139+132_139+135del	NP_001070957.1:n.139+132_139+135del
NM_001309840.2:c.-39+2644_-39+2647del	NP_001296769.1:n.-39+2644_-39+2647del
NM_001309842.2:c.139+132_139+135del	NP_001296771.1:n.139+132_139+135del
NM_001309861.2:c.-38-3615_-38-3612del	NP_001296790.1:n.-38-3615_-38-3612del
NM_016592.4:c.*43-3615_*43-3612del	NP_057676.1:n.*43-3615_*43-3612del
NM_080426.4:c.139+132_139+135del	NP_536351.1:n.139+132_139+135del
NM_000516.7:c.139+132_139+135del MANE Select	NP_000507.1:n.139+132_139+135del
NM_001077488.5:c.139+132_139+135del	NP_001070956.1:n.139+132_139+135del
NM_001077490.3:c.*1-3615_*1-3612del	NP_001070958.1:n.*1-3615_*1-3612del
NM_016592.5:c.*43-3615_*43-3612del MANE Plus Clinical	NP_057676.1:n.*43-3615_*43-3612del
NM_080425.4:c.2069-3615_2069-3612del MANE Plus Clinical	NP_536350.2:n.2069-3615_2069-3612del