Canonical Allele Identifier: CA2653521639
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58891640-G-GCTGCCCCGGCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891643_58891653dup , CM000682.2:g.58891643_58891653dup GRCh38
NC_000020.10:g.57466698_57466708dup , CM000682.1:g.57466698_57466708dup GRCh37
NC_000020.9:g.56900093_56900103dup NCBI36
NG_016194.1:g.56904_56914dup
NG_016194.2:g.56904_56914dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3969_2069-3959dup ENSP00000265621.6:n.2069-3969_2069-3959dup
ENST00000419558.7:c.*43-3969_*43-3959dup ENSP00000416234.2:n.*43-3969_*43-3959dup
ENST00000423897.7:c.2069-3969_2069-3959dup ENSP00000412356.2:n.2069-3969_2069-3959dup
ENST00000453292.7:c.781-3969_781-3959dup ENSP00000392000.2:n.781-3969_781-3959dup
ENST00000462499.6:c.-38-3969_-38-3959dup ENSP00000499758.2:n.-38-3969_-38-3959dup
ENST00000464624.7:c.2160-3969_2160-3959dup ENSP00000499607.2:n.2160-3969_2160-3959dup
ENST00000464788.6:c.-39+2430_-39+2440dup ENSP00000499239.2:n.-39+2430_-39+2440dup
ENST00000467227.6:c.-38-3969_-38-3959dup ENSP00000499681.2:n.-38-3969_-38-3959dup
ENST00000467321.6:c.-39+2597_-39+2607dup ENSP00000499523.2:n.-39+2597_-39+2607dup
ENST00000469431.6:c.-39+2237_-39+2247dup ENSP00000499654.2:n.-39+2237_-39+2247dup
ENST00000470512.6:c.-39+2290_-39+2300dup ENSP00000499552.2:n.-39+2290_-39+2300dup
ENST00000472183.6:c.-38-3969_-38-3959dup ENSP00000499673.2:n.-38-3969_-38-3959dup
ENST00000478585.6:c.-39+2290_-39+2300dup ENSP00000499762.2:n.-39+2290_-39+2300dup
ENST00000480232.6:c.-39+2094_-39+2104dup ENSP00000499545.2:n.-39+2094_-39+2104dup
ENST00000481039.6:c.-39+2735_-39+2745dup ENSP00000499767.2:n.-39+2735_-39+2745dup
ENST00000482112.6:c.-38-3969_-38-3959dup ENSP00000499794.2:n.-38-3969_-38-3959dup
ENST00000485673.6:c.-39+2094_-39+2104dup ENSP00000499334.2:n.-39+2094_-39+2104dup
ENST00000488546.6:c.-39+2825_-39+2835dup ENSP00000499332.2:n.-39+2825_-39+2835dup
ENST00000604005.6:c.-39+2311_-39+2321dup ENSP00000474219.2:n.-39+2311_-39+2321dup
ENST00000663479.2:c.-38-3969_-38-3959dup ENSP00000499353.2:n.-38-3969_-38-3959dup
ENST00000667293.2:c.-39+2739_-39+2749dup ENSP00000499293.2:n.-39+2739_-39+2749dup
ENST00000676826.2:c.2069-3969_2069-3959dup ENSP00000504675.2:n.2069-3969_2069-3959dup
ENST00000683015.1:c.909+854_909+864dup ENSP00000506815.1:n.909+854_909+864dup
ENST00000306090.12:c.44-3969_44-3959dup ENSP00000304472.12:n.44-3969_44-3959dup
ENST00000349036.8:c.2069-3969_2069-3959dup ENSP00000265621.5:n.2069-3969_2069-3959dup
ENST00000354359.12:c.-84_-74dup ENSP00000346328.7:n.-84_-74dup
ENST00000371085.8:c.-84_-74dup MANE Select ENSP00000360126.3:n.-84_-74dup
ENST00000371100.9:c.2069-3969_2069-3959dup MANE Plus Clinical ENSP00000360141.3:n.2069-3969_2069-3959dup
ENST00000419558.6:c.*43-3969_*43-3959dup ENSP00000416234.2:n.*43-3969_*43-3959dup
ENST00000423897.6:c.2069-3969_2069-3959dup ENSP00000412356.2:n.2069-3969_2069-3959dup
ENST00000453292.6:c.*43-3969_*43-3959dup ENSP00000392000.2:n.*43-3969_*43-3959dup
ENST00000461152.6:c.909+854_909+864dup ENSP00000499274.1:n.909+854_909+864dup
ENST00000481768.6:c.2227-3969_2227-3959dup ENSP00000499644.2:n.2227-3969_2227-3959dup
ENST00000490374.6:n.223-3969_223-3959dup
ENST00000657090.1:c.-38-3969_-38-3959dup ENSP00000499380.1:n.-38-3969_-38-3959dup
ENST00000663479.1:c.-38-3969_-38-3959dup ENSP00000499353.1:n.-38-3969_-38-3959dup
ENST00000667293.1:c.11-3969_11-3959dup ENSP00000499293.1:n.11-3969_11-3959dup
ENST00000676826.1:c.2069-3969_2069-3959dup ENSP00000504675.1:n.2069-3969_2069-3959dup
ENST00000265620.11:c.-84_-74dup ENSP00000265620.7:n.-84_-74dup
ENST00000313949.11:c.*43-3969_*43-3959dup ENSP00000323571.7:n.*43-3969_*43-3959dup
ENST00000349036.7:c.188-3969_188-3959dup ENSP00000265621.4:n.188-3969_188-3959dup
ENST00000354359.11:c.-84_-74dup ENSP00000346328.7:n.-84_-74dup
ENST00000371075.7:c.*43-3969_*43-3959dup MANE Plus Clinical ENSP00000360115.3:n.*43-3969_*43-3959dup
ENST00000371085.7:c.-84_-74dup ENSP00000360126.3:n.-84_-74dup
ENST00000371095.7:c.-84_-74dup ENSP00000360136.3:n.-84_-74dup
ENST00000371098.6:c.*43-3969_*43-3959dup ENSP00000360139.2:n.*43-3969_*43-3959dup
ENST00000371100.8:c.2069-3969_2069-3959dup ENSP00000360141.3:n.2069-3969_2069-3959dup
ENST00000371102.8:c.2069-3969_2069-3959dup ENSP00000360143.4:n.2069-3969_2069-3959dup
ENST00000419558.5:c.384-3969_384-3959dup
ENST00000423897.5:c.157-3969_157-3959dup
ENST00000450130.5:c.228-3969_228-3959dup
ENST00000453292.5:c.544-3969_544-3959dup ENSP00000392000.1:n.544-3969_544-3959dup
ENST00000461152.5:n.147+854_147+864dup
ENST00000462499.5:n.259-3969_259-3959dup
ENST00000464624.6:n.2133_2143dup
ENST00000464788.5:n.67+2430_67+2440dup
ENST00000464960.5:n.406+2825_406+2835dup
ENST00000467227.5:n.123-3969_123-3959dup
ENST00000467321.5:n.154+2597_154+2607dup
ENST00000468895.5:n.50+2735_50+2745dup
ENST00000469431.5:n.256+2237_256+2247dup
ENST00000470512.5:n.210+2290_210+2300dup
ENST00000472183.5:n.392-3969_392-3959dup
ENST00000477931.5:n.254+2290_254+2300dup
ENST00000478585.5:n.194+2290_194+2300dup
ENST00000480232.5:n.155+2094_155+2104dup
ENST00000480975.5:n.183+2290_183+2300dup
ENST00000481039.5:n.56+2739_56+2749dup
ENST00000481768.5:n.1324-3969_1324-3959dup
ENST00000482112.5:n.259-3969_259-3959dup
ENST00000484504.5:n.127+2290_127+2300dup
ENST00000485673.5:n.426+2094_426+2104dup
ENST00000488546.5:n.40+2825_40+2835dup
ENST00000490374.5:n.255-3969_255-3959dup
ENST00000491348.5:n.534-3969_534-3959dup
ENST00000493744.5:n.233-3969_233-3959dup
ENST00000604005.5:c.-39+2311_-39+2321dup ENSP00000474219.1:n.-39+2311_-39+2321dup
NM_000516.4:c.-84_-74dup NP_000507.1:n.-84_-74dup
NM_000516.5:c.-84_-74dup NP_000507.1:n.-84_-74dup
NM_001077488.2:c.-84_-74dup NP_001070956.1:n.-84_-74dup
NM_001077488.3:c.-84_-74dup NP_001070956.1:n.-84_-74dup
NM_001077489.2:c.-84_-74dup NP_001070957.1:n.-84_-74dup
NM_001077489.3:c.-84_-74dup NP_001070957.1:n.-84_-74dup
NM_001077490.1:c.*1-3969_*1-3959dup NP_001070958.1:n.*1-3969_*1-3959dup
NM_001077490.2:c.*1-3969_*1-3959dup NP_001070958.1:n.*1-3969_*1-3959dup
NM_001309840.1:c.-39+2290_-39+2300dup NP_001296769.1:n.-39+2290_-39+2300dup
NM_001309842.1:c.-84_-74dup NP_001296771.1:n.-84_-74dup
NM_001309861.1:c.-38-3969_-38-3959dup NP_001296790.1:n.-38-3969_-38-3959dup
NM_001309883.1:c.*159-3969_*159-3959dup NP_001296812.1:n.*159-3969_*159-3959dup
NM_016592.2:c.*43-3969_*43-3959dup NP_057676.1:n.*43-3969_*43-3959dup
NM_016592.3:c.*43-3969_*43-3959dup NP_057676.1:n.*43-3969_*43-3959dup
NM_080425.2:c.2069-3969_2069-3959dup NP_536350.2:n.2069-3969_2069-3959dup
NM_080425.3:c.2069-3969_2069-3959dup NP_536350.2:n.2069-3969_2069-3959dup
NM_080426.2:c.-84_-74dup NP_536351.1:n.-84_-74dup
NM_080426.3:c.-84_-74dup NP_536351.1:n.-84_-74dup
NR_003259.1:c.-4294967067+2290_-4294967067+2300dup
NR_132273.1:n.406+2825_406+2835dup
XM_017027812.2:c.2069-3969_2069-3959dup XP_016883301.1:n.2069-3969_2069-3959dup
XM_017027813.2:c.2069-3969_2069-3959dup XP_016883302.1:n.2069-3969_2069-3959dup
XM_017027814.2:c.2069-3969_2069-3959dup XP_016883303.1:n.2069-3969_2069-3959dup
XM_017027815.1:c.44-3969_44-3959dup XP_016883304.1:n.44-3969_44-3959dup
XM_017027816.1:c.-388_-378dup XP_016883305.1:n.-388_-378dup
XM_017027817.1:c.-39+2290_-39+2300dup XP_016883306.1:n.-39+2290_-39+2300dup
XM_017027819.1:c.-39+2311_-39+2321dup XP_016883308.1:n.-39+2311_-39+2321dup
XM_017027821.1:c.*43-3969_*43-3959dup XP_016883310.1:n.*43-3969_*43-3959dup
XM_017027822.1:c.*43-3969_*43-3959dup XP_016883311.1:n.*43-3969_*43-3959dup
XM_024451872.1:c.44-3969_44-3959dup XP_024307640.1:n.44-3969_44-3959dup
XM_024451875.1:c.-39+2311_-39+2321dup XP_024307643.1:n.-39+2311_-39+2321dup
XR_002958471.1:n.542_552dup
NM_000516.6:c.-84_-74dup NP_000507.1:n.-84_-74dup
NM_001077488.4:c.-84_-74dup NP_001070956.1:n.-84_-74dup
NM_001077489.4:c.-84_-74dup NP_001070957.1:n.-84_-74dup
NM_001309840.2:c.-39+2290_-39+2300dup NP_001296769.1:n.-39+2290_-39+2300dup
NM_001309842.2:c.-84_-74dup NP_001296771.1:n.-84_-74dup
NM_001309861.2:c.-38-3969_-38-3959dup NP_001296790.1:n.-38-3969_-38-3959dup
NM_016592.4:c.*43-3969_*43-3959dup NP_057676.1:n.*43-3969_*43-3959dup
NM_080426.4:c.-84_-74dup NP_536351.1:n.-84_-74dup
NM_000516.7:c.-84_-74dup MANE Select NP_000507.1:n.-84_-74dup
NM_001077488.5:c.-84_-74dup NP_001070956.1:n.-84_-74dup
NM_001077490.3:c.*1-3969_*1-3959dup NP_001070958.1:n.*1-3969_*1-3959dup
NM_016592.5:c.*43-3969_*43-3959dup MANE Plus Clinical NP_057676.1:n.*43-3969_*43-3959dup
NM_080425.4:c.2069-3969_2069-3959dup MANE Plus Clinical NP_536350.2:n.2069-3969_2069-3959dup
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