Canonical Allele Identifier: CA316321086

Gene: GNAS

Linked Data

• dbSNP Id: rs919248346
• gnomAD v2: 20-57467209-CCT-C
• gnomAD v3: 20-58892154-CCT-C
• gnomAD v4: 20-58892154-CCT-C
• MyVariant Identifiers: chr20:g.57467210_57467211del (hg19) ; chr20:g.57467212_57467217delinsTTCT (hg19) ; chr20:g.58892155_58892156del (hg38) ; chr20:g.58892157_58892162delinsTTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58892157_58892158del , CM000682.2:g.58892157_58892158del	GRCh38
NC_000020.10:g.57467212_57467213del , CM000682.1:g.57467212_57467213del	GRCh37
NC_000020.9:g.56900607_56900608del	NCBI36
NG_016194.1:g.57418_57419del
NG_016194.2:g.57418_57419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3455_2069-3454del	ENSP00000265621.6:n.2069-3455_2069-3454del
ENST00000419558.7:c.*43-3455_*43-3454del	ENSP00000416234.2:n.*43-3455_*43-3454del
ENST00000423897.7:c.2069-3455_2069-3454del	ENSP00000412356.2:n.2069-3455_2069-3454del
ENST00000453292.7:c.781-3455_781-3454del	ENSP00000392000.2:n.781-3455_781-3454del
ENST00000462499.6:c.-38-3455_-38-3454del	ENSP00000499758.2:n.-38-3455_-38-3454del
ENST00000464624.7:c.2160-3455_2160-3454del	ENSP00000499607.2:n.2160-3455_2160-3454del
ENST00000464788.6:c.-39+2944_-39+2945del	ENSP00000499239.2:n.-39+2944_-39+2945del
ENST00000467227.6:c.-38-3455_-38-3454del	ENSP00000499681.2:n.-38-3455_-38-3454del
ENST00000467321.6:c.-39+3111_-39+3112del	ENSP00000499523.2:n.-39+3111_-39+3112del
ENST00000468895.6:c.139+292_139+293del	ENSP00000499551.2:n.139+292_139+293del
ENST00000469431.6:c.-39+2751_-39+2752del	ENSP00000499654.2:n.-39+2751_-39+2752del
ENST00000470512.6:c.-39+2804_-39+2805del	ENSP00000499552.2:n.-39+2804_-39+2805del
ENST00000472183.6:c.-38-3455_-38-3454del	ENSP00000499673.2:n.-38-3455_-38-3454del
ENST00000476935.6:c.-91_-90del	ENSP00000499409.2:n.-91_-90del
ENST00000478585.6:c.-39+2804_-39+2805del	ENSP00000499762.2:n.-39+2804_-39+2805del
ENST00000480232.6:c.-39+2608_-39+2609del	ENSP00000499545.2:n.-39+2608_-39+2609del
ENST00000481039.6:c.-39+3249_-39+3250del	ENSP00000499767.2:n.-39+3249_-39+3250del
ENST00000482112.6:c.-38-3455_-38-3454del	ENSP00000499794.2:n.-38-3455_-38-3454del
ENST00000485673.6:c.-39+2608_-39+2609del	ENSP00000499334.2:n.-39+2608_-39+2609del
ENST00000488546.6:c.-39+3339_-39+3340del	ENSP00000499332.2:n.-39+3339_-39+3340del
ENST00000488652.6:c.-91_-90del	ENSP00000499435.2:n.-91_-90del
ENST00000492907.6:c.-91_-90del	ENSP00000499443.2:n.-91_-90del
ENST00000604005.6:c.-39+2825_-39+2826del	ENSP00000474219.2:n.-39+2825_-39+2826del
ENST00000663479.2:c.-38-3455_-38-3454del	ENSP00000499353.2:n.-38-3455_-38-3454del
ENST00000667293.2:c.-39+3253_-39+3254del	ENSP00000499293.2:n.-39+3253_-39+3254del
ENST00000676826.2:c.2069-3455_2069-3454del	ENSP00000504675.2:n.2069-3455_2069-3454del
ENST00000682803.1:c.-366+292_-366+293del	ENSP00000507069.1:n.-366+292_-366+293del
ENST00000683015.1:c.909+1368_909+1369del	ENSP00000506815.1:n.909+1368_909+1369del
ENST00000306090.12:c.44-3455_44-3454del	ENSP00000304472.12:n.44-3455_44-3454del
ENST00000338783.7:c.139+292_139+293del	ENSP00000345971.7:n.139+292_139+293del
ENST00000349036.8:c.2069-3455_2069-3454del	ENSP00000265621.5:n.2069-3455_2069-3454del
ENST00000354359.12:c.139+292_139+293del	ENSP00000346328.7:n.139+292_139+293del
ENST00000371085.8:c.139+292_139+293del MANE Select	ENSP00000360126.3:n.139+292_139+293del
ENST00000371100.9:c.2069-3455_2069-3454del MANE Plus Clinical	ENSP00000360141.3:n.2069-3455_2069-3454del
ENST00000419558.6:c.*43-3455_*43-3454del	ENSP00000416234.2:n.*43-3455_*43-3454del
ENST00000423897.6:c.2069-3455_2069-3454del	ENSP00000412356.2:n.2069-3455_2069-3454del
ENST00000453292.6:c.*43-3455_*43-3454del	ENSP00000392000.2:n.*43-3455_*43-3454del
ENST00000461152.6:c.909+1368_909+1369del	ENSP00000499274.1:n.909+1368_909+1369del
ENST00000481768.6:c.2227-3455_2227-3454del	ENSP00000499644.2:n.2227-3455_2227-3454del
ENST00000490374.6:n.223-3455_223-3454del
ENST00000657090.1:c.-38-3455_-38-3454del	ENSP00000499380.1:n.-38-3455_-38-3454del
ENST00000663479.1:c.-38-3455_-38-3454del	ENSP00000499353.1:n.-38-3455_-38-3454del
ENST00000667293.1:c.11-3455_11-3454del	ENSP00000499293.1:n.11-3455_11-3454del
ENST00000676826.1:c.2069-3455_2069-3454del	ENSP00000504675.1:n.2069-3455_2069-3454del
ENST00000265620.11:c.139+292_139+293del	ENSP00000265620.7:n.139+292_139+293del
ENST00000306090.11:c.93+338_93+339del	ENSP00000304472.11:n.93+338_93+339del
ENST00000313949.11:c.*43-3455_*43-3454del	ENSP00000323571.7:n.*43-3455_*43-3454del
ENST00000338783.6:c.106+292_106+293del	ENSP00000345971.6:n.106+292_106+293del
ENST00000349036.7:c.188-3455_188-3454del	ENSP00000265621.4:n.188-3455_188-3454del
ENST00000354359.11:c.139+292_139+293del	ENSP00000346328.7:n.139+292_139+293del
ENST00000371075.7:c.*43-3455_*43-3454del MANE Plus Clinical	ENSP00000360115.3:n.*43-3455_*43-3454del
ENST00000371081.5:c.139+292_139+293del	ENSP00000360122.1:n.139+292_139+293del
ENST00000371085.7:c.139+292_139+293del	ENSP00000360126.3:n.139+292_139+293del
ENST00000371095.7:c.139+292_139+293del	ENSP00000360136.3:n.139+292_139+293del
ENST00000371098.6:c.*43-3455_*43-3454del	ENSP00000360139.2:n.*43-3455_*43-3454del
ENST00000371100.8:c.2069-3455_2069-3454del	ENSP00000360141.3:n.2069-3455_2069-3454del
ENST00000371102.8:c.2069-3455_2069-3454del	ENSP00000360143.4:n.2069-3455_2069-3454del
ENST00000419558.5:c.384-3455_384-3454del
ENST00000423897.5:c.157-3455_157-3454del
ENST00000450130.5:c.228-3455_228-3454del
ENST00000453292.5:c.544-3455_544-3454del	ENSP00000392000.1:n.544-3455_544-3454del
ENST00000461152.5:n.147+1368_147+1369del
ENST00000462499.5:n.259-3455_259-3454del
ENST00000464624.6:n.2355+292_2355+293del
ENST00000464788.5:n.67+2944_67+2945del
ENST00000464960.5:n.406+3339_406+3340del
ENST00000467227.5:n.123-3455_123-3454del
ENST00000467321.5:n.154+3111_154+3112del
ENST00000468895.5:n.50+3249_50+3250del
ENST00000469431.5:n.256+2751_256+2752del
ENST00000470512.5:n.210+2804_210+2805del
ENST00000472183.5:n.392-3455_392-3454del
ENST00000476935.5:n.121_122del
ENST00000477931.5:n.254+2804_254+2805del
ENST00000478585.5:n.194+2804_194+2805del
ENST00000480232.5:n.155+2608_155+2609del
ENST00000480975.5:n.183+2804_183+2805del
ENST00000481039.5:n.56+3253_56+3254del
ENST00000481768.5:n.1324-3455_1324-3454del
ENST00000482112.5:n.259-3455_259-3454del
ENST00000484504.5:n.127+2804_127+2805del
ENST00000485673.5:n.426+2608_426+2609del
ENST00000488546.5:n.40+3339_40+3340del
ENST00000488652.5:n.177_178del
ENST00000490374.5:n.255-3455_255-3454del
ENST00000491348.5:n.534-3455_534-3454del
ENST00000492907.5:n.80_81del
ENST00000493744.5:n.233-3455_233-3454del
ENST00000604005.5:c.-39+2825_-39+2826del	ENSP00000474219.1:n.-39+2825_-39+2826del
NM_000516.4:c.139+292_139+293del	NP_000507.1:n.139+292_139+293del
NM_000516.5:c.139+292_139+293del	NP_000507.1:n.139+292_139+293del
NM_001077488.2:c.139+292_139+293del	NP_001070956.1:n.139+292_139+293del
NM_001077488.3:c.139+292_139+293del	NP_001070956.1:n.139+292_139+293del
NM_001077489.2:c.139+292_139+293del	NP_001070957.1:n.139+292_139+293del
NM_001077489.3:c.139+292_139+293del	NP_001070957.1:n.139+292_139+293del
NM_001077490.1:c.*1-3455_*1-3454del	NP_001070958.1:n.*1-3455_*1-3454del
NM_001077490.2:c.*1-3455_*1-3454del	NP_001070958.1:n.*1-3455_*1-3454del
NM_001309840.1:c.-39+2804_-39+2805del	NP_001296769.1:n.-39+2804_-39+2805del
NM_001309842.1:c.139+292_139+293del	NP_001296771.1:n.139+292_139+293del
NM_001309861.1:c.-38-3455_-38-3454del	NP_001296790.1:n.-38-3455_-38-3454del
NM_001309883.1:c.*159-3455_*159-3454del	NP_001296812.1:n.*159-3455_*159-3454del
NM_016592.2:c.*43-3455_*43-3454del	NP_057676.1:n.*43-3455_*43-3454del
NM_016592.3:c.*43-3455_*43-3454del	NP_057676.1:n.*43-3455_*43-3454del
NM_080425.2:c.2069-3455_2069-3454del	NP_536350.2:n.2069-3455_2069-3454del
NM_080425.3:c.2069-3455_2069-3454del	NP_536350.2:n.2069-3455_2069-3454del
NM_080426.2:c.139+292_139+293del	NP_536351.1:n.139+292_139+293del
NM_080426.3:c.139+292_139+293del	NP_536351.1:n.139+292_139+293del
NR_003259.1:c.-4294967067+2804_-4294967067+2805del
NR_132273.1:n.406+3339_406+3340del
XM_017027812.2:c.2069-3455_2069-3454del	XP_016883301.1:n.2069-3455_2069-3454del
XM_017027813.2:c.2069-3455_2069-3454del	XP_016883302.1:n.2069-3455_2069-3454del
XM_017027814.2:c.2069-3455_2069-3454del	XP_016883303.1:n.2069-3455_2069-3454del
XM_017027815.1:c.44-3455_44-3454del	XP_016883304.1:n.44-3455_44-3454del
XM_017027816.1:c.-166+292_-166+293del	XP_016883305.1:n.-166+292_-166+293del
XM_017027817.1:c.-39+2804_-39+2805del	XP_016883306.1:n.-39+2804_-39+2805del
XM_017027818.2:c.-91_-90del	XP_016883307.1:n.-91_-90del
XM_017027819.1:c.-39+2825_-39+2826del	XP_016883308.1:n.-39+2825_-39+2826del
XM_017027821.1:c.*43-3455_*43-3454del	XP_016883310.1:n.*43-3455_*43-3454del
XM_017027822.1:c.*43-3455_*43-3454del	XP_016883311.1:n.*43-3455_*43-3454del
XM_024451872.1:c.44-3455_44-3454del	XP_024307640.1:n.44-3455_44-3454del
XM_024451873.1:c.-91_-90del	XP_024307641.1:n.-91_-90del
XM_024451875.1:c.-39+2825_-39+2826del	XP_024307643.1:n.-39+2825_-39+2826del
XR_002958471.1:n.764+292_764+293del
NM_000516.6:c.139+292_139+293del	NP_000507.1:n.139+292_139+293del
NM_001077488.4:c.139+292_139+293del	NP_001070956.1:n.139+292_139+293del
NM_001077489.4:c.139+292_139+293del	NP_001070957.1:n.139+292_139+293del
NM_001309840.2:c.-39+2804_-39+2805del	NP_001296769.1:n.-39+2804_-39+2805del
NM_001309842.2:c.139+292_139+293del	NP_001296771.1:n.139+292_139+293del
NM_001309861.2:c.-38-3455_-38-3454del	NP_001296790.1:n.-38-3455_-38-3454del
NM_016592.4:c.*43-3455_*43-3454del	NP_057676.1:n.*43-3455_*43-3454del
NM_080426.4:c.139+292_139+293del	NP_536351.1:n.139+292_139+293del
NM_000516.7:c.139+292_139+293del MANE Select	NP_000507.1:n.139+292_139+293del
NM_001077488.5:c.139+292_139+293del	NP_001070956.1:n.139+292_139+293del
NM_001077490.3:c.*1-3455_*1-3454del	NP_001070958.1:n.*1-3455_*1-3454del
NM_016592.5:c.*43-3455_*43-3454del MANE Plus Clinical	NP_057676.1:n.*43-3455_*43-3454del
NM_080425.4:c.2069-3455_2069-3454del MANE Plus Clinical	NP_536350.2:n.2069-3455_2069-3454del