Canonical Allele Identifier: CA2595220947

Gene: GNAS

Linked Data

• gnomAD v3: 20-58891406-GGCGGCA-G
• gnomAD v4: 20-58891406-GGCGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58891412_58891417del , CM000682.2:g.58891412_58891417del	GRCh38
NC_000020.10:g.57466467_57466472del , CM000682.1:g.57466467_57466472del	GRCh37
NC_000020.9:g.56899862_56899867del	NCBI36
NG_016194.1:g.56673_56678del
NG_016194.2:g.56673_56678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-4200_2069-4195del	ENSP00000265621.6:n.2069-4200_2069-4195del
ENST00000419558.7:c.*43-4200_*43-4195del	ENSP00000416234.2:n.*43-4200_*43-4195del
ENST00000423897.7:c.2069-4200_2069-4195del	ENSP00000412356.2:n.2069-4200_2069-4195del
ENST00000453292.7:c.781-4200_781-4195del	ENSP00000392000.2:n.781-4200_781-4195del
ENST00000462499.6:c.-38-4200_-38-4195del	ENSP00000499758.2:n.-38-4200_-38-4195del
ENST00000464624.7:c.2160-4200_2160-4195del	ENSP00000499607.2:n.2160-4200_2160-4195del
ENST00000464788.6:c.-39+2199_-39+2204del	ENSP00000499239.2:n.-39+2199_-39+2204del
ENST00000467227.6:c.-38-4200_-38-4195del	ENSP00000499681.2:n.-38-4200_-38-4195del
ENST00000467321.6:c.-39+2366_-39+2371del	ENSP00000499523.2:n.-39+2366_-39+2371del
ENST00000469431.6:c.-39+2006_-39+2011del	ENSP00000499654.2:n.-39+2006_-39+2011del
ENST00000470512.6:c.-39+2059_-39+2064del	ENSP00000499552.2:n.-39+2059_-39+2064del
ENST00000472183.6:c.-38-4200_-38-4195del	ENSP00000499673.2:n.-38-4200_-38-4195del
ENST00000478585.6:c.-39+2059_-39+2064del	ENSP00000499762.2:n.-39+2059_-39+2064del
ENST00000480232.6:c.-39+1863_-39+1868del	ENSP00000499545.2:n.-39+1863_-39+1868del
ENST00000481039.6:c.-39+2504_-39+2509del	ENSP00000499767.2:n.-39+2504_-39+2509del
ENST00000482112.6:c.-38-4200_-38-4195del	ENSP00000499794.2:n.-38-4200_-38-4195del
ENST00000485673.6:c.-39+1863_-39+1868del	ENSP00000499334.2:n.-39+1863_-39+1868del
ENST00000488546.6:c.-39+2594_-39+2599del	ENSP00000499332.2:n.-39+2594_-39+2599del
ENST00000604005.6:c.-39+2080_-39+2085del	ENSP00000474219.2:n.-39+2080_-39+2085del
ENST00000663479.2:c.-38-4200_-38-4195del	ENSP00000499353.2:n.-38-4200_-38-4195del
ENST00000667293.2:c.-39+2508_-39+2513del	ENSP00000499293.2:n.-39+2508_-39+2513del
ENST00000676826.2:c.2069-4200_2069-4195del	ENSP00000504675.2:n.2069-4200_2069-4195del
ENST00000683015.1:c.909+623_909+628del	ENSP00000506815.1:n.909+623_909+628del
ENST00000306090.12:c.44-4200_44-4195del	ENSP00000304472.12:n.44-4200_44-4195del
ENST00000349036.8:c.2069-4200_2069-4195del	ENSP00000265621.5:n.2069-4200_2069-4195del
ENST00000371100.9:c.2069-4200_2069-4195del MANE Plus Clinical	ENSP00000360141.3:n.2069-4200_2069-4195del
ENST00000419558.6:c.*43-4200_*43-4195del	ENSP00000416234.2:n.*43-4200_*43-4195del
ENST00000423897.6:c.2069-4200_2069-4195del	ENSP00000412356.2:n.2069-4200_2069-4195del
ENST00000453292.6:c.*43-4200_*43-4195del	ENSP00000392000.2:n.*43-4200_*43-4195del
ENST00000461152.6:c.909+623_909+628del	ENSP00000499274.1:n.909+623_909+628del
ENST00000481768.6:c.2227-4200_2227-4195del	ENSP00000499644.2:n.2227-4200_2227-4195del
ENST00000490374.6:n.223-4200_223-4195del
ENST00000657090.1:c.-38-4200_-38-4195del	ENSP00000499380.1:n.-38-4200_-38-4195del
ENST00000663479.1:c.-38-4200_-38-4195del	ENSP00000499353.1:n.-38-4200_-38-4195del
ENST00000667293.1:c.11-4200_11-4195del	ENSP00000499293.1:n.11-4200_11-4195del
ENST00000676826.1:c.2069-4200_2069-4195del	ENSP00000504675.1:n.2069-4200_2069-4195del
ENST00000265620.11:c.-315_-310del	ENSP00000265620.7:n.-315_-310del
ENST00000313949.11:c.*43-4200_*43-4195del	ENSP00000323571.7:n.*43-4200_*43-4195del
ENST00000349036.7:c.188-4200_188-4195del	ENSP00000265621.4:n.188-4200_188-4195del
ENST00000354359.11:c.-315_-310del	ENSP00000346328.7:n.-315_-310del
ENST00000371075.7:c.*43-4200_*43-4195del MANE Plus Clinical	ENSP00000360115.3:n.*43-4200_*43-4195del
ENST00000371085.7:c.-315_-310del	ENSP00000360126.3:n.-315_-310del
ENST00000371095.7:c.-315_-310del	ENSP00000360136.3:n.-315_-310del
ENST00000371098.6:c.*43-4200_*43-4195del	ENSP00000360139.2:n.*43-4200_*43-4195del
ENST00000371100.8:c.2069-4200_2069-4195del	ENSP00000360141.3:n.2069-4200_2069-4195del
ENST00000371102.8:c.2069-4200_2069-4195del	ENSP00000360143.4:n.2069-4200_2069-4195del
ENST00000419558.5:c.384-4200_384-4195del
ENST00000423897.5:c.157-4200_157-4195del
ENST00000450130.5:c.228-4200_228-4195del
ENST00000453292.5:c.544-4200_544-4195del	ENSP00000392000.1:n.544-4200_544-4195del
ENST00000461152.5:n.147+623_147+628del
ENST00000462499.5:n.259-4200_259-4195del
ENST00000464624.6:n.2072-170_2072-165del
ENST00000464788.5:n.67+2199_67+2204del
ENST00000464960.5:n.406+2594_406+2599del
ENST00000467227.5:n.123-4200_123-4195del
ENST00000467321.5:n.154+2366_154+2371del
ENST00000468895.5:n.50+2504_50+2509del
ENST00000469431.5:n.256+2006_256+2011del
ENST00000470512.5:n.210+2059_210+2064del
ENST00000472183.5:n.392-4200_392-4195del
ENST00000477931.5:n.254+2059_254+2064del
ENST00000478585.5:n.194+2059_194+2064del
ENST00000480232.5:n.155+1863_155+1868del
ENST00000480975.5:n.183+2059_183+2064del
ENST00000481039.5:n.56+2508_56+2513del
ENST00000481768.5:n.1324-4200_1324-4195del
ENST00000482112.5:n.259-4200_259-4195del
ENST00000484504.5:n.127+2059_127+2064del
ENST00000485673.5:n.426+1863_426+1868del
ENST00000488546.5:n.40+2594_40+2599del
ENST00000490374.5:n.255-4200_255-4195del
ENST00000491348.5:n.534-4200_534-4195del
ENST00000493744.5:n.233-4200_233-4195del
ENST00000604005.5:c.-39+2080_-39+2085del	ENSP00000474219.1:n.-39+2080_-39+2085del
NM_000516.4:c.-315_-310del	NP_000507.1:n.-315_-310del
NM_000516.5:c.-315_-310del	NP_000507.1:n.-315_-310del
NM_001077488.2:c.-315_-310del	NP_001070956.1:n.-315_-310del
NM_001077488.3:c.-315_-310del	NP_001070956.1:n.-315_-310del
NM_001077489.2:c.-315_-310del	NP_001070957.1:n.-315_-310del
NM_001077489.3:c.-315_-310del	NP_001070957.1:n.-315_-310del
NM_001077490.1:c.*1-4200_*1-4195del	NP_001070958.1:n.*1-4200_*1-4195del
NM_001077490.2:c.*1-4200_*1-4195del	NP_001070958.1:n.*1-4200_*1-4195del
NM_001309840.1:c.-39+2059_-39+2064del	NP_001296769.1:n.-39+2059_-39+2064del
NM_001309842.1:c.-315_-310del	NP_001296771.1:n.-315_-310del
NM_001309861.1:c.-38-4200_-38-4195del	NP_001296790.1:n.-38-4200_-38-4195del
NM_001309883.1:c.*159-4200_*159-4195del	NP_001296812.1:n.*159-4200_*159-4195del
NM_016592.2:c.*43-4200_*43-4195del	NP_057676.1:n.*43-4200_*43-4195del
NM_016592.3:c.*43-4200_*43-4195del	NP_057676.1:n.*43-4200_*43-4195del
NM_080425.2:c.2069-4200_2069-4195del	NP_536350.2:n.2069-4200_2069-4195del
NM_080425.3:c.2069-4200_2069-4195del	NP_536350.2:n.2069-4200_2069-4195del
NM_080426.2:c.-315_-310del	NP_536351.1:n.-315_-310del
NM_080426.3:c.-315_-310del	NP_536351.1:n.-315_-310del
NR_003259.1:c.-4294967067+2059_-4294967067+2064del
NR_132273.1:n.406+2594_406+2599del
XM_017027812.2:c.2069-4200_2069-4195del	XP_016883301.1:n.2069-4200_2069-4195del
XM_017027813.2:c.2069-4200_2069-4195del	XP_016883302.1:n.2069-4200_2069-4195del
XM_017027814.2:c.2069-4200_2069-4195del	XP_016883303.1:n.2069-4200_2069-4195del
XM_017027815.1:c.44-4200_44-4195del	XP_016883304.1:n.44-4200_44-4195del
XM_017027816.1:c.-619_-614del	XP_016883305.1:n.-619_-614del
XM_017027817.1:c.-39+2059_-39+2064del	XP_016883306.1:n.-39+2059_-39+2064del
XM_017027819.1:c.-39+2080_-39+2085del	XP_016883308.1:n.-39+2080_-39+2085del
XM_017027821.1:c.*43-4200_*43-4195del	XP_016883310.1:n.*43-4200_*43-4195del
XM_017027822.1:c.*43-4200_*43-4195del	XP_016883311.1:n.*43-4200_*43-4195del
XM_024451872.1:c.44-4200_44-4195del	XP_024307640.1:n.44-4200_44-4195del
XM_024451875.1:c.-39+2080_-39+2085del	XP_024307643.1:n.-39+2080_-39+2085del
XR_002958471.1:n.311_316del
NM_001309840.2:c.-39+2059_-39+2064del	NP_001296769.1:n.-39+2059_-39+2064del
NM_001309861.2:c.-38-4200_-38-4195del	NP_001296790.1:n.-38-4200_-38-4195del
NM_016592.4:c.*43-4200_*43-4195del	NP_057676.1:n.*43-4200_*43-4195del
NM_001077490.3:c.*1-4200_*1-4195del	NP_001070958.1:n.*1-4200_*1-4195del
NM_016592.5:c.*43-4200_*43-4195del MANE Plus Clinical	NP_057676.1:n.*43-4200_*43-4195del
NM_080425.4:c.2069-4200_2069-4195del MANE Plus Clinical	NP_536350.2:n.2069-4200_2069-4195del