Canonical Allele Identifier: CA2653521755
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v4: 20-58891715-G-GCCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891717_58891718insACC , CM000682.2:g.58891717_58891718insACC GRCh38
NC_000020.10:g.57466772_57466773insACC , CM000682.1:g.57466772_57466773insACC GRCh37
NC_000020.9:g.56900167_56900168insACC NCBI36
NG_016194.1:g.56978_56979insACC
NG_016194.2:g.56978_56979insACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3895_2069-3894insACC ENSP00000265621.6:n.2069-3895_2069-3894insACC
ENST00000419558.7:c.*43-3895_*43-3894insACC ENSP00000416234.2:n.*43-3895_*43-3894insACC
ENST00000423897.7:c.2069-3895_2069-3894insACC ENSP00000412356.2:n.2069-3895_2069-3894insACC
ENST00000453292.7:c.781-3895_781-3894insACC ENSP00000392000.2:n.781-3895_781-3894insACC
ENST00000462499.6:c.-38-3895_-38-3894insACC ENSP00000499758.2:n.-38-3895_-38-3894insACC
ENST00000464624.7:c.2160-3895_2160-3894insACC ENSP00000499607.2:n.2160-3895_2160-3894insACC
ENST00000464788.6:c.-39+2504_-39+2505insACC ENSP00000499239.2:n.-39+2504_-39+2505insACC
ENST00000467227.6:c.-38-3895_-38-3894insACC ENSP00000499681.2:n.-38-3895_-38-3894insACC
ENST00000467321.6:c.-39+2671_-39+2672insACC ENSP00000499523.2:n.-39+2671_-39+2672insACC
ENST00000468895.6:c.-10_-9insACC ENSP00000499551.2:n.-10_-9insACC
ENST00000469431.6:c.-39+2311_-39+2312insACC ENSP00000499654.2:n.-39+2311_-39+2312insACC
ENST00000470512.6:c.-39+2364_-39+2365insACC ENSP00000499552.2:n.-39+2364_-39+2365insACC
ENST00000472183.6:c.-38-3895_-38-3894insACC ENSP00000499673.2:n.-38-3895_-38-3894insACC
ENST00000478585.6:c.-39+2364_-39+2365insACC ENSP00000499762.2:n.-39+2364_-39+2365insACC
ENST00000480232.6:c.-39+2168_-39+2169insACC ENSP00000499545.2:n.-39+2168_-39+2169insACC
ENST00000481039.6:c.-39+2809_-39+2810insACC ENSP00000499767.2:n.-39+2809_-39+2810insACC
ENST00000482112.6:c.-38-3895_-38-3894insACC ENSP00000499794.2:n.-38-3895_-38-3894insACC
ENST00000485673.6:c.-39+2168_-39+2169insACC ENSP00000499334.2:n.-39+2168_-39+2169insACC
ENST00000488546.6:c.-39+2899_-39+2900insACC ENSP00000499332.2:n.-39+2899_-39+2900insACC
ENST00000604005.6:c.-39+2385_-39+2386insACC ENSP00000474219.2:n.-39+2385_-39+2386insACC
ENST00000663479.2:c.-38-3895_-38-3894insACC ENSP00000499353.2:n.-38-3895_-38-3894insACC
ENST00000667293.2:c.-39+2813_-39+2814insACC ENSP00000499293.2:n.-39+2813_-39+2814insACC
ENST00000676826.2:c.2069-3895_2069-3894insACC ENSP00000504675.2:n.2069-3895_2069-3894insACC
ENST00000683015.1:c.909+928_909+929insACC ENSP00000506815.1:n.909+928_909+929insACC
ENST00000306090.12:c.44-3895_44-3894insACC ENSP00000304472.12:n.44-3895_44-3894insACC
ENST00000349036.8:c.2069-3895_2069-3894insACC ENSP00000265621.5:n.2069-3895_2069-3894insACC
ENST00000354359.12:c.-10_-9insACC ENSP00000346328.7:n.-10_-9insACC
ENST00000371085.8:c.-10_-9insACC MANE Select ENSP00000360126.3:n.-10_-9insACC
ENST00000371100.9:c.2069-3895_2069-3894insACC MANE Plus Clinical ENSP00000360141.3:n.2069-3895_2069-3894insACC
ENST00000419558.6:c.*43-3895_*43-3894insACC ENSP00000416234.2:n.*43-3895_*43-3894insACC
ENST00000423897.6:c.2069-3895_2069-3894insACC ENSP00000412356.2:n.2069-3895_2069-3894insACC
ENST00000453292.6:c.*43-3895_*43-3894insACC ENSP00000392000.2:n.*43-3895_*43-3894insACC
ENST00000461152.6:c.909+928_909+929insACC ENSP00000499274.1:n.909+928_909+929insACC
ENST00000481768.6:c.2227-3895_2227-3894insACC ENSP00000499644.2:n.2227-3895_2227-3894insACC
ENST00000490374.6:n.223-3895_223-3894insACC
ENST00000657090.1:c.-38-3895_-38-3894insACC ENSP00000499380.1:n.-38-3895_-38-3894insACC
ENST00000663479.1:c.-38-3895_-38-3894insACC ENSP00000499353.1:n.-38-3895_-38-3894insACC
ENST00000667293.1:c.11-3895_11-3894insACC ENSP00000499293.1:n.11-3895_11-3894insACC
ENST00000676826.1:c.2069-3895_2069-3894insACC ENSP00000504675.1:n.2069-3895_2069-3894insACC
ENST00000265620.11:c.-10_-9insACC ENSP00000265620.7:n.-10_-9insACC
ENST00000313949.11:c.*43-3895_*43-3894insACC ENSP00000323571.7:n.*43-3895_*43-3894insACC
ENST00000349036.7:c.188-3895_188-3894insACC ENSP00000265621.4:n.188-3895_188-3894insACC
ENST00000354359.11:c.-10_-9insACC ENSP00000346328.7:n.-10_-9insACC
ENST00000371075.7:c.*43-3895_*43-3894insACC MANE Plus Clinical ENSP00000360115.3:n.*43-3895_*43-3894insACC
ENST00000371081.5:c.-10_-9insACC ENSP00000360122.1:n.-10_-9insACC
ENST00000371085.7:c.-10_-9insACC ENSP00000360126.3:n.-10_-9insACC
ENST00000371095.7:c.-10_-9insACC ENSP00000360136.3:n.-10_-9insACC
ENST00000371098.6:c.*43-3895_*43-3894insACC ENSP00000360139.2:n.*43-3895_*43-3894insACC
ENST00000371100.8:c.2069-3895_2069-3894insACC ENSP00000360141.3:n.2069-3895_2069-3894insACC
ENST00000371102.8:c.2069-3895_2069-3894insACC ENSP00000360143.4:n.2069-3895_2069-3894insACC
ENST00000419558.5:c.384-3895_384-3894insACC
ENST00000423897.5:c.157-3895_157-3894insACC
ENST00000450130.5:c.228-3895_228-3894insACC
ENST00000453292.5:c.544-3895_544-3894insACC ENSP00000392000.1:n.544-3895_544-3894insACC
ENST00000461152.5:n.147+928_147+929insACC
ENST00000462499.5:n.259-3895_259-3894insACC
ENST00000464624.6:n.2207_2208insACC
ENST00000464788.5:n.67+2504_67+2505insACC
ENST00000464960.5:n.406+2899_406+2900insACC
ENST00000467227.5:n.123-3895_123-3894insACC
ENST00000467321.5:n.154+2671_154+2672insACC
ENST00000468895.5:n.50+2809_50+2810insACC
ENST00000469431.5:n.256+2311_256+2312insACC
ENST00000470512.5:n.210+2364_210+2365insACC
ENST00000472183.5:n.392-3895_392-3894insACC
ENST00000477931.5:n.254+2364_254+2365insACC
ENST00000478585.5:n.194+2364_194+2365insACC
ENST00000480232.5:n.155+2168_155+2169insACC
ENST00000480975.5:n.183+2364_183+2365insACC
ENST00000481039.5:n.56+2813_56+2814insACC
ENST00000481768.5:n.1324-3895_1324-3894insACC
ENST00000482112.5:n.259-3895_259-3894insACC
ENST00000484504.5:n.127+2364_127+2365insACC
ENST00000485673.5:n.426+2168_426+2169insACC
ENST00000488546.5:n.40+2899_40+2900insACC
ENST00000490374.5:n.255-3895_255-3894insACC
ENST00000491348.5:n.534-3895_534-3894insACC
ENST00000493744.5:n.233-3895_233-3894insACC
ENST00000604005.5:c.-39+2385_-39+2386insACC ENSP00000474219.1:n.-39+2385_-39+2386insACC
NM_000516.4:c.-10_-9insACC NP_000507.1:n.-10_-9insACC
NM_000516.5:c.-10_-9insACC NP_000507.1:n.-10_-9insACC
NM_001077488.2:c.-10_-9insACC NP_001070956.1:n.-10_-9insACC
NM_001077488.3:c.-10_-9insACC NP_001070956.1:n.-10_-9insACC
NM_001077489.2:c.-10_-9insACC NP_001070957.1:n.-10_-9insACC
NM_001077489.3:c.-10_-9insACC NP_001070957.1:n.-10_-9insACC
NM_001077490.1:c.*1-3895_*1-3894insACC NP_001070958.1:n.*1-3895_*1-3894insACC
NM_001077490.2:c.*1-3895_*1-3894insACC NP_001070958.1:n.*1-3895_*1-3894insACC
NM_001309840.1:c.-39+2364_-39+2365insACC NP_001296769.1:n.-39+2364_-39+2365insACC
NM_001309842.1:c.-10_-9insACC NP_001296771.1:n.-10_-9insACC
NM_001309861.1:c.-38-3895_-38-3894insACC NP_001296790.1:n.-38-3895_-38-3894insACC
NM_001309883.1:c.*159-3895_*159-3894insACC NP_001296812.1:n.*159-3895_*159-3894insACC
NM_016592.2:c.*43-3895_*43-3894insACC NP_057676.1:n.*43-3895_*43-3894insACC
NM_016592.3:c.*43-3895_*43-3894insACC NP_057676.1:n.*43-3895_*43-3894insACC
NM_080425.2:c.2069-3895_2069-3894insACC NP_536350.2:n.2069-3895_2069-3894insACC
NM_080425.3:c.2069-3895_2069-3894insACC NP_536350.2:n.2069-3895_2069-3894insACC
NM_080426.2:c.-10_-9insACC NP_536351.1:n.-10_-9insACC
NM_080426.3:c.-10_-9insACC NP_536351.1:n.-10_-9insACC
NR_003259.1:c.-4294967067+2364_-4294967067+2365insACC
NR_132273.1:n.406+2899_406+2900insACC
XM_017027812.2:c.2069-3895_2069-3894insACC XP_016883301.1:n.2069-3895_2069-3894insACC
XM_017027813.2:c.2069-3895_2069-3894insACC XP_016883302.1:n.2069-3895_2069-3894insACC
XM_017027814.2:c.2069-3895_2069-3894insACC XP_016883303.1:n.2069-3895_2069-3894insACC
XM_017027815.1:c.44-3895_44-3894insACC XP_016883304.1:n.44-3895_44-3894insACC
XM_017027816.1:c.-314_-313insACC XP_016883305.1:n.-314_-313insACC
XM_017027817.1:c.-39+2364_-39+2365insACC XP_016883306.1:n.-39+2364_-39+2365insACC
XM_017027819.1:c.-39+2385_-39+2386insACC XP_016883308.1:n.-39+2385_-39+2386insACC
XM_017027821.1:c.*43-3895_*43-3894insACC XP_016883310.1:n.*43-3895_*43-3894insACC
XM_017027822.1:c.*43-3895_*43-3894insACC XP_016883311.1:n.*43-3895_*43-3894insACC
XM_024451872.1:c.44-3895_44-3894insACC XP_024307640.1:n.44-3895_44-3894insACC
XM_024451875.1:c.-39+2385_-39+2386insACC XP_024307643.1:n.-39+2385_-39+2386insACC
XR_002958471.1:n.616_617insACC
NM_000516.6:c.-10_-9insACC NP_000507.1:n.-10_-9insACC
NM_001077488.4:c.-10_-9insACC NP_001070956.1:n.-10_-9insACC
NM_001077489.4:c.-10_-9insACC NP_001070957.1:n.-10_-9insACC
NM_001309840.2:c.-39+2364_-39+2365insACC NP_001296769.1:n.-39+2364_-39+2365insACC
NM_001309842.2:c.-10_-9insACC NP_001296771.1:n.-10_-9insACC
NM_001309861.2:c.-38-3895_-38-3894insACC NP_001296790.1:n.-38-3895_-38-3894insACC
NM_016592.4:c.*43-3895_*43-3894insACC NP_057676.1:n.*43-3895_*43-3894insACC
NM_080426.4:c.-10_-9insACC NP_536351.1:n.-10_-9insACC
NM_000516.7:c.-10_-9insACC MANE Select NP_000507.1:n.-10_-9insACC
NM_001077488.5:c.-10_-9insACC NP_001070956.1:n.-10_-9insACC
NM_001077490.3:c.*1-3895_*1-3894insACC NP_001070958.1:n.*1-3895_*1-3894insACC
NM_016592.5:c.*43-3895_*43-3894insACC MANE Plus Clinical NP_057676.1:n.*43-3895_*43-3894insACC
NM_080425.4:c.2069-3895_2069-3894insACC MANE Plus Clinical NP_536350.2:n.2069-3895_2069-3894insACC
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