Canonical Allele Identifier: CA746044041

Gene: GNAS

Linked Data

• dbSNP Id: rs1440775984
• gnomAD v3: 20-58891575-CCCGCAGT-C
• gnomAD v4: 20-58891575-CCCGCAGT-C
• MyVariant Identifiers: chr20:g.57466631_57466637del (hg19) ; chr20:g.58891576_58891582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891580_58891586del , CM000682.2:g.58891580_58891586del	GRCh38
NC_000020.10:g.57466635_57466641del , CM000682.1:g.57466635_57466641del	GRCh37
NC_000020.9:g.56900030_56900036del	NCBI36
NG_016194.1:g.56841_56847del
NG_016194.2:g.56841_56847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-4032_2069-4026del	ENSP00000265621.6:n.2069-4032_2069-4026del
ENST00000419558.7:c.*43-4032_*43-4026del	ENSP00000416234.2:n.*43-4032_*43-4026del
ENST00000423897.7:c.2069-4032_2069-4026del	ENSP00000412356.2:n.2069-4032_2069-4026del
ENST00000453292.7:c.781-4032_781-4026del	ENSP00000392000.2:n.781-4032_781-4026del
ENST00000462499.6:c.-38-4032_-38-4026del	ENSP00000499758.2:n.-38-4032_-38-4026del
ENST00000464624.7:c.2160-4032_2160-4026del	ENSP00000499607.2:n.2160-4032_2160-4026del
ENST00000464788.6:c.-39+2367_-39+2373del	ENSP00000499239.2:n.-39+2367_-39+2373del
ENST00000467227.6:c.-38-4032_-38-4026del	ENSP00000499681.2:n.-38-4032_-38-4026del
ENST00000467321.6:c.-39+2534_-39+2540del	ENSP00000499523.2:n.-39+2534_-39+2540del
ENST00000469431.6:c.-39+2174_-39+2180del	ENSP00000499654.2:n.-39+2174_-39+2180del
ENST00000470512.6:c.-39+2227_-39+2233del	ENSP00000499552.2:n.-39+2227_-39+2233del
ENST00000472183.6:c.-38-4032_-38-4026del	ENSP00000499673.2:n.-38-4032_-38-4026del
ENST00000478585.6:c.-39+2227_-39+2233del	ENSP00000499762.2:n.-39+2227_-39+2233del
ENST00000480232.6:c.-39+2031_-39+2037del	ENSP00000499545.2:n.-39+2031_-39+2037del
ENST00000481039.6:c.-39+2672_-39+2678del	ENSP00000499767.2:n.-39+2672_-39+2678del
ENST00000482112.6:c.-38-4032_-38-4026del	ENSP00000499794.2:n.-38-4032_-38-4026del
ENST00000485673.6:c.-39+2031_-39+2037del	ENSP00000499334.2:n.-39+2031_-39+2037del
ENST00000488546.6:c.-39+2762_-39+2768del	ENSP00000499332.2:n.-39+2762_-39+2768del
ENST00000604005.6:c.-39+2248_-39+2254del	ENSP00000474219.2:n.-39+2248_-39+2254del
ENST00000663479.2:c.-38-4032_-38-4026del	ENSP00000499353.2:n.-38-4032_-38-4026del
ENST00000667293.2:c.-39+2676_-39+2682del	ENSP00000499293.2:n.-39+2676_-39+2682del
ENST00000676826.2:c.2069-4032_2069-4026del	ENSP00000504675.2:n.2069-4032_2069-4026del
ENST00000683015.1:c.909+791_909+797del	ENSP00000506815.1:n.909+791_909+797del
ENST00000306090.12:c.44-4032_44-4026del	ENSP00000304472.12:n.44-4032_44-4026del
ENST00000349036.8:c.2069-4032_2069-4026del	ENSP00000265621.5:n.2069-4032_2069-4026del
ENST00000354359.12:c.-147_-141del	ENSP00000346328.7:n.-147_-141del
ENST00000371085.8:c.-147_-141del MANE Select	ENSP00000360126.3:n.-147_-141del
ENST00000371100.9:c.2069-4032_2069-4026del MANE Plus Clinical	ENSP00000360141.3:n.2069-4032_2069-4026del
ENST00000419558.6:c.*43-4032_*43-4026del	ENSP00000416234.2:n.*43-4032_*43-4026del
ENST00000423897.6:c.2069-4032_2069-4026del	ENSP00000412356.2:n.2069-4032_2069-4026del
ENST00000453292.6:c.*43-4032_*43-4026del	ENSP00000392000.2:n.*43-4032_*43-4026del
ENST00000461152.6:c.909+791_909+797del	ENSP00000499274.1:n.909+791_909+797del
ENST00000481768.6:c.2227-4032_2227-4026del	ENSP00000499644.2:n.2227-4032_2227-4026del
ENST00000490374.6:n.223-4032_223-4026del
ENST00000657090.1:c.-38-4032_-38-4026del	ENSP00000499380.1:n.-38-4032_-38-4026del
ENST00000663479.1:c.-38-4032_-38-4026del	ENSP00000499353.1:n.-38-4032_-38-4026del
ENST00000667293.1:c.11-4032_11-4026del	ENSP00000499293.1:n.11-4032_11-4026del
ENST00000676826.1:c.2069-4032_2069-4026del	ENSP00000504675.1:n.2069-4032_2069-4026del
ENST00000265620.11:c.-147_-141del	ENSP00000265620.7:n.-147_-141del
ENST00000313949.11:c.*43-4032_*43-4026del	ENSP00000323571.7:n.*43-4032_*43-4026del
ENST00000349036.7:c.188-4032_188-4026del	ENSP00000265621.4:n.188-4032_188-4026del
ENST00000354359.11:c.-147_-141del	ENSP00000346328.7:n.-147_-141del
ENST00000371075.7:c.*43-4032_*43-4026del MANE Plus Clinical	ENSP00000360115.3:n.*43-4032_*43-4026del
ENST00000371085.7:c.-147_-141del	ENSP00000360126.3:n.-147_-141del
ENST00000371095.7:c.-147_-141del	ENSP00000360136.3:n.-147_-141del
ENST00000371098.6:c.*43-4032_*43-4026del	ENSP00000360139.2:n.*43-4032_*43-4026del
ENST00000371100.8:c.2069-4032_2069-4026del	ENSP00000360141.3:n.2069-4032_2069-4026del
ENST00000371102.8:c.2069-4032_2069-4026del	ENSP00000360143.4:n.2069-4032_2069-4026del
ENST00000419558.5:c.384-4032_384-4026del
ENST00000423897.5:c.157-4032_157-4026del
ENST00000450130.5:c.228-4032_228-4026del
ENST00000453292.5:c.544-4032_544-4026del	ENSP00000392000.1:n.544-4032_544-4026del
ENST00000461152.5:n.147+791_147+797del
ENST00000462499.5:n.259-4032_259-4026del
ENST00000464624.6:n.2072-2_2076del
ENST00000464788.5:n.67+2367_67+2373del
ENST00000464960.5:n.406+2762_406+2768del
ENST00000467227.5:n.123-4032_123-4026del
ENST00000467321.5:n.154+2534_154+2540del
ENST00000468895.5:n.50+2672_50+2678del
ENST00000469431.5:n.256+2174_256+2180del
ENST00000470512.5:n.210+2227_210+2233del
ENST00000472183.5:n.392-4032_392-4026del
ENST00000477931.5:n.254+2227_254+2233del
ENST00000478585.5:n.194+2227_194+2233del
ENST00000480232.5:n.155+2031_155+2037del
ENST00000480975.5:n.183+2227_183+2233del
ENST00000481039.5:n.56+2676_56+2682del
ENST00000481768.5:n.1324-4032_1324-4026del
ENST00000482112.5:n.259-4032_259-4026del
ENST00000484504.5:n.127+2227_127+2233del
ENST00000485673.5:n.426+2031_426+2037del
ENST00000488546.5:n.40+2762_40+2768del
ENST00000490374.5:n.255-4032_255-4026del
ENST00000491348.5:n.534-4032_534-4026del
ENST00000493744.5:n.233-4032_233-4026del
ENST00000604005.5:c.-39+2248_-39+2254del	ENSP00000474219.1:n.-39+2248_-39+2254del
NM_000516.4:c.-147_-141del	NP_000507.1:n.-147_-141del
NM_000516.5:c.-147_-141del	NP_000507.1:n.-147_-141del
NM_001077488.2:c.-147_-141del	NP_001070956.1:n.-147_-141del
NM_001077488.3:c.-147_-141del	NP_001070956.1:n.-147_-141del
NM_001077489.2:c.-147_-141del	NP_001070957.1:n.-147_-141del
NM_001077489.3:c.-147_-141del	NP_001070957.1:n.-147_-141del
NM_001077490.1:c.*1-4032_*1-4026del	NP_001070958.1:n.*1-4032_*1-4026del
NM_001077490.2:c.*1-4032_*1-4026del	NP_001070958.1:n.*1-4032_*1-4026del
NM_001309840.1:c.-39+2227_-39+2233del	NP_001296769.1:n.-39+2227_-39+2233del
NM_001309842.1:c.-147_-141del	NP_001296771.1:n.-147_-141del
NM_001309861.1:c.-38-4032_-38-4026del	NP_001296790.1:n.-38-4032_-38-4026del
NM_001309883.1:c.*159-4032_*159-4026del	NP_001296812.1:n.*159-4032_*159-4026del
NM_016592.2:c.*43-4032_*43-4026del	NP_057676.1:n.*43-4032_*43-4026del
NM_016592.3:c.*43-4032_*43-4026del	NP_057676.1:n.*43-4032_*43-4026del
NM_080425.2:c.2069-4032_2069-4026del	NP_536350.2:n.2069-4032_2069-4026del
NM_080425.3:c.2069-4032_2069-4026del	NP_536350.2:n.2069-4032_2069-4026del
NM_080426.2:c.-147_-141del	NP_536351.1:n.-147_-141del
NM_080426.3:c.-147_-141del	NP_536351.1:n.-147_-141del
NR_003259.1:c.-4294967067+2227_-4294967067+2233del
NR_132273.1:n.406+2762_406+2768del
XM_017027812.2:c.2069-4032_2069-4026del	XP_016883301.1:n.2069-4032_2069-4026del
XM_017027813.2:c.2069-4032_2069-4026del	XP_016883302.1:n.2069-4032_2069-4026del
XM_017027814.2:c.2069-4032_2069-4026del	XP_016883303.1:n.2069-4032_2069-4026del
XM_017027815.1:c.44-4032_44-4026del	XP_016883304.1:n.44-4032_44-4026del
XM_017027816.1:c.-451_-445del	XP_016883305.1:n.-451_-445del
XM_017027817.1:c.-39+2227_-39+2233del	XP_016883306.1:n.-39+2227_-39+2233del
XM_017027819.1:c.-39+2248_-39+2254del	XP_016883308.1:n.-39+2248_-39+2254del
XM_017027821.1:c.*43-4032_*43-4026del	XP_016883310.1:n.*43-4032_*43-4026del
XM_017027822.1:c.*43-4032_*43-4026del	XP_016883311.1:n.*43-4032_*43-4026del
XM_024451872.1:c.44-4032_44-4026del	XP_024307640.1:n.44-4032_44-4026del
XM_024451875.1:c.-39+2248_-39+2254del	XP_024307643.1:n.-39+2248_-39+2254del
XR_002958471.1:n.479_485del
NM_000516.6:c.-147_-141del	NP_000507.1:n.-147_-141del
NM_001077488.4:c.-147_-141del	NP_001070956.1:n.-147_-141del
NM_001077489.4:c.-147_-141del	NP_001070957.1:n.-147_-141del
NM_001309840.2:c.-39+2227_-39+2233del	NP_001296769.1:n.-39+2227_-39+2233del
NM_001309842.2:c.-147_-141del	NP_001296771.1:n.-147_-141del
NM_001309861.2:c.-38-4032_-38-4026del	NP_001296790.1:n.-38-4032_-38-4026del
NM_016592.4:c.*43-4032_*43-4026del	NP_057676.1:n.*43-4032_*43-4026del
NM_080426.4:c.-147_-141del	NP_536351.1:n.-147_-141del
NM_000516.7:c.-147_-141del MANE Select	NP_000507.1:n.-147_-141del
NM_001077488.5:c.-147_-141del	NP_001070956.1:n.-147_-141del
NM_001077490.3:c.*1-4032_*1-4026del	NP_001070958.1:n.*1-4032_*1-4026del
NM_016592.5:c.*43-4032_*43-4026del MANE Plus Clinical	NP_057676.1:n.*43-4032_*43-4026del
NM_080425.4:c.2069-4032_2069-4026del MANE Plus Clinical	NP_536350.2:n.2069-4032_2069-4026del