Canonical Allele Identifier: CA2503690374
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891513_58891530del , CM000682.2:g.58891513_58891530del GRCh38
NC_000020.10:g.57466568_57466585del , CM000682.1:g.57466568_57466585del GRCh37
NC_000020.9:g.56899963_56899980del NCBI36
NG_016194.1:g.56774_56791del
NG_016194.2:g.56774_56791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-4099_2069-4082del ENSP00000265621.6:n.2069-4099_2069-4082del
ENST00000419558.7:c.*43-4099_*43-4082del ENSP00000416234.2:n.*43-4099_*43-4082del
ENST00000423897.7:c.2069-4099_2069-4082del ENSP00000412356.2:n.2069-4099_2069-4082del
ENST00000453292.7:c.781-4099_781-4082del ENSP00000392000.2:n.781-4099_781-4082del
ENST00000462499.6:c.-38-4099_-38-4082del ENSP00000499758.2:n.-38-4099_-38-4082del
ENST00000464624.7:c.2160-4099_2160-4082del ENSP00000499607.2:n.2160-4099_2160-4082del
ENST00000464788.6:c.-39+2300_-39+2317del ENSP00000499239.2:n.-39+2300_-39+2317del
ENST00000467227.6:c.-38-4099_-38-4082del ENSP00000499681.2:n.-38-4099_-38-4082del
ENST00000467321.6:c.-39+2467_-39+2484del ENSP00000499523.2:n.-39+2467_-39+2484del
ENST00000469431.6:c.-39+2107_-39+2124del ENSP00000499654.2:n.-39+2107_-39+2124del
ENST00000470512.6:c.-39+2160_-39+2177del ENSP00000499552.2:n.-39+2160_-39+2177del
ENST00000472183.6:c.-38-4099_-38-4082del ENSP00000499673.2:n.-38-4099_-38-4082del
ENST00000478585.6:c.-39+2160_-39+2177del ENSP00000499762.2:n.-39+2160_-39+2177del
ENST00000480232.6:c.-39+1964_-39+1981del ENSP00000499545.2:n.-39+1964_-39+1981del
ENST00000481039.6:c.-39+2605_-39+2622del ENSP00000499767.2:n.-39+2605_-39+2622del
ENST00000482112.6:c.-38-4099_-38-4082del ENSP00000499794.2:n.-38-4099_-38-4082del
ENST00000485673.6:c.-39+1964_-39+1981del ENSP00000499334.2:n.-39+1964_-39+1981del
ENST00000488546.6:c.-39+2695_-39+2712del ENSP00000499332.2:n.-39+2695_-39+2712del
ENST00000604005.6:c.-39+2181_-39+2198del ENSP00000474219.2:n.-39+2181_-39+2198del
ENST00000663479.2:c.-38-4099_-38-4082del ENSP00000499353.2:n.-38-4099_-38-4082del
ENST00000667293.2:c.-39+2609_-39+2626del ENSP00000499293.2:n.-39+2609_-39+2626del
ENST00000676826.2:c.2069-4099_2069-4082del ENSP00000504675.2:n.2069-4099_2069-4082del
ENST00000683015.1:c.909+724_909+741del ENSP00000506815.1:n.909+724_909+741del
ENST00000306090.12:c.44-4099_44-4082del ENSP00000304472.12:n.44-4099_44-4082del
ENST00000349036.8:c.2069-4099_2069-4082del ENSP00000265621.5:n.2069-4099_2069-4082del
ENST00000354359.12:c.-214_-197del ENSP00000346328.7:n.-214_-197del
ENST00000371085.8:c.-214_-197del MANE Select ENSP00000360126.3:n.-214_-197del
ENST00000371100.9:c.2069-4099_2069-4082del MANE Plus Clinical ENSP00000360141.3:n.2069-4099_2069-4082del
ENST00000419558.6:c.*43-4099_*43-4082del ENSP00000416234.2:n.*43-4099_*43-4082del
ENST00000423897.6:c.2069-4099_2069-4082del ENSP00000412356.2:n.2069-4099_2069-4082del
ENST00000453292.6:c.*43-4099_*43-4082del ENSP00000392000.2:n.*43-4099_*43-4082del
ENST00000461152.6:c.909+724_909+741del ENSP00000499274.1:n.909+724_909+741del
ENST00000481768.6:c.2227-4099_2227-4082del ENSP00000499644.2:n.2227-4099_2227-4082del
ENST00000490374.6:n.223-4099_223-4082del
ENST00000657090.1:c.-38-4099_-38-4082del ENSP00000499380.1:n.-38-4099_-38-4082del
ENST00000663479.1:c.-38-4099_-38-4082del ENSP00000499353.1:n.-38-4099_-38-4082del
ENST00000667293.1:c.11-4099_11-4082del ENSP00000499293.1:n.11-4099_11-4082del
ENST00000676826.1:c.2069-4099_2069-4082del ENSP00000504675.1:n.2069-4099_2069-4082del
ENST00000265620.11:c.-214_-197del ENSP00000265620.7:n.-214_-197del
ENST00000313949.11:c.*43-4099_*43-4082del ENSP00000323571.7:n.*43-4099_*43-4082del
ENST00000349036.7:c.188-4099_188-4082del ENSP00000265621.4:n.188-4099_188-4082del
ENST00000354359.11:c.-214_-197del ENSP00000346328.7:n.-214_-197del
ENST00000371075.7:c.*43-4099_*43-4082del MANE Plus Clinical ENSP00000360115.3:n.*43-4099_*43-4082del
ENST00000371085.7:c.-214_-197del ENSP00000360126.3:n.-214_-197del
ENST00000371095.7:c.-214_-197del ENSP00000360136.3:n.-214_-197del
ENST00000371098.6:c.*43-4099_*43-4082del ENSP00000360139.2:n.*43-4099_*43-4082del
ENST00000371100.8:c.2069-4099_2069-4082del ENSP00000360141.3:n.2069-4099_2069-4082del
ENST00000371102.8:c.2069-4099_2069-4082del ENSP00000360143.4:n.2069-4099_2069-4082del
ENST00000419558.5:c.384-4099_384-4082del
ENST00000423897.5:c.157-4099_157-4082del
ENST00000450130.5:c.228-4099_228-4082del
ENST00000453292.5:c.544-4099_544-4082del ENSP00000392000.1:n.544-4099_544-4082del
ENST00000461152.5:n.147+724_147+741del
ENST00000462499.5:n.259-4099_259-4082del
ENST00000464624.6:n.2072-69_2072-52del
ENST00000464788.5:n.67+2300_67+2317del
ENST00000464960.5:n.406+2695_406+2712del
ENST00000467227.5:n.123-4099_123-4082del
ENST00000467321.5:n.154+2467_154+2484del
ENST00000468895.5:n.50+2605_50+2622del
ENST00000469431.5:n.256+2107_256+2124del
ENST00000470512.5:n.210+2160_210+2177del
ENST00000472183.5:n.392-4099_392-4082del
ENST00000477931.5:n.254+2160_254+2177del
ENST00000478585.5:n.194+2160_194+2177del
ENST00000480232.5:n.155+1964_155+1981del
ENST00000480975.5:n.183+2160_183+2177del
ENST00000481039.5:n.56+2609_56+2626del
ENST00000481768.5:n.1324-4099_1324-4082del
ENST00000482112.5:n.259-4099_259-4082del
ENST00000484504.5:n.127+2160_127+2177del
ENST00000485673.5:n.426+1964_426+1981del
ENST00000488546.5:n.40+2695_40+2712del
ENST00000490374.5:n.255-4099_255-4082del
ENST00000491348.5:n.534-4099_534-4082del
ENST00000493744.5:n.233-4099_233-4082del
ENST00000604005.5:c.-39+2181_-39+2198del ENSP00000474219.1:n.-39+2181_-39+2198del
NM_000516.4:c.-214_-197del NP_000507.1:n.-214_-197del
NM_000516.5:c.-214_-197del NP_000507.1:n.-214_-197del
NM_001077488.2:c.-214_-197del NP_001070956.1:n.-214_-197del
NM_001077488.3:c.-214_-197del NP_001070956.1:n.-214_-197del
NM_001077489.2:c.-214_-197del NP_001070957.1:n.-214_-197del
NM_001077489.3:c.-214_-197del NP_001070957.1:n.-214_-197del
NM_001077490.1:c.*1-4099_*1-4082del NP_001070958.1:n.*1-4099_*1-4082del
NM_001077490.2:c.*1-4099_*1-4082del NP_001070958.1:n.*1-4099_*1-4082del
NM_001309840.1:c.-39+2160_-39+2177del NP_001296769.1:n.-39+2160_-39+2177del
NM_001309842.1:c.-214_-197del NP_001296771.1:n.-214_-197del
NM_001309861.1:c.-38-4099_-38-4082del NP_001296790.1:n.-38-4099_-38-4082del
NM_001309883.1:c.*159-4099_*159-4082del NP_001296812.1:n.*159-4099_*159-4082del
NM_016592.2:c.*43-4099_*43-4082del NP_057676.1:n.*43-4099_*43-4082del
NM_016592.3:c.*43-4099_*43-4082del NP_057676.1:n.*43-4099_*43-4082del
NM_080425.2:c.2069-4099_2069-4082del NP_536350.2:n.2069-4099_2069-4082del
NM_080425.3:c.2069-4099_2069-4082del NP_536350.2:n.2069-4099_2069-4082del
NM_080426.2:c.-214_-197del NP_536351.1:n.-214_-197del
NM_080426.3:c.-214_-197del NP_536351.1:n.-214_-197del
NR_003259.1:c.-4294967067+2160_-4294967067+2177del
NR_132273.1:n.406+2695_406+2712del
XM_017027812.2:c.2069-4099_2069-4082del XP_016883301.1:n.2069-4099_2069-4082del
XM_017027813.2:c.2069-4099_2069-4082del XP_016883302.1:n.2069-4099_2069-4082del
XM_017027814.2:c.2069-4099_2069-4082del XP_016883303.1:n.2069-4099_2069-4082del
XM_017027815.1:c.44-4099_44-4082del XP_016883304.1:n.44-4099_44-4082del
XM_017027816.1:c.-518_-501del XP_016883305.1:n.-518_-501del
XM_017027817.1:c.-39+2160_-39+2177del XP_016883306.1:n.-39+2160_-39+2177del
XM_017027819.1:c.-39+2181_-39+2198del XP_016883308.1:n.-39+2181_-39+2198del
XM_017027821.1:c.*43-4099_*43-4082del XP_016883310.1:n.*43-4099_*43-4082del
XM_017027822.1:c.*43-4099_*43-4082del XP_016883311.1:n.*43-4099_*43-4082del
XM_024451872.1:c.44-4099_44-4082del XP_024307640.1:n.44-4099_44-4082del
XM_024451875.1:c.-39+2181_-39+2198del XP_024307643.1:n.-39+2181_-39+2198del
XR_002958471.1:n.412_429del
NM_000516.6:c.-214_-197del NP_000507.1:n.-214_-197del
NM_001077488.4:c.-214_-197del NP_001070956.1:n.-214_-197del
NM_001077489.4:c.-214_-197del NP_001070957.1:n.-214_-197del
NM_001309840.2:c.-39+2160_-39+2177del NP_001296769.1:n.-39+2160_-39+2177del
NM_001309842.2:c.-214_-197del NP_001296771.1:n.-214_-197del
NM_001309861.2:c.-38-4099_-38-4082del NP_001296790.1:n.-38-4099_-38-4082del
NM_016592.4:c.*43-4099_*43-4082del NP_057676.1:n.*43-4099_*43-4082del
NM_080426.4:c.-214_-197del NP_536351.1:n.-214_-197del
NM_000516.7:c.-214_-197del MANE Select NP_000507.1:n.-214_-197del
NM_001077488.5:c.-214_-197del NP_001070956.1:n.-214_-197del
NM_001077490.3:c.*1-4099_*1-4082del NP_001070958.1:n.*1-4099_*1-4082del
NM_016592.5:c.*43-4099_*43-4082del MANE Plus Clinical NP_057676.1:n.*43-4099_*43-4082del
NM_080425.4:c.2069-4099_2069-4082del MANE Plus Clinical NP_536350.2:n.2069-4099_2069-4082del