Canonical Allele Identifier: CA1018910172
Gene: GNAS HGNC NCBI

Linked Data

gnomAD v3: 20-58891926-CCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGG-C
gnomAD v4: 20-58891926-CCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58891934_58891964del , CM000682.2:g.58891934_58891964del GRCh38
NC_000020.10:g.57466989_57467019del , CM000682.1:g.57466989_57467019del GRCh37
NC_000020.9:g.56900384_56900414del NCBI36
NG_016194.1:g.57195_57225del
NG_016194.2:g.57195_57225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-3678_2069-3648del ENSP00000265621.6:n.2069-3678_2069-3648del
ENST00000419558.7:c.*43-3678_*43-3648del ENSP00000416234.2:n.*43-3678_*43-3648del
ENST00000423897.7:c.2069-3678_2069-3648del ENSP00000412356.2:n.2069-3678_2069-3648del
ENST00000453292.7:c.781-3678_781-3648del ENSP00000392000.2:n.781-3678_781-3648del
ENST00000462499.6:c.-38-3678_-38-3648del ENSP00000499758.2:n.-38-3678_-38-3648del
ENST00000464624.7:c.2160-3678_2160-3648del ENSP00000499607.2:n.2160-3678_2160-3648del
ENST00000464788.6:c.-39+2721_-39+2751del ENSP00000499239.2:n.-39+2721_-39+2751del
ENST00000467227.6:c.-38-3678_-38-3648del ENSP00000499681.2:n.-38-3678_-38-3648del
ENST00000467321.6:c.-39+2888_-39+2918del ENSP00000499523.2:n.-39+2888_-39+2918del
ENST00000468895.6:c.139+69_139+99del ENSP00000499551.2:n.139+69_139+99del
ENST00000469431.6:c.-39+2528_-39+2558del ENSP00000499654.2:n.-39+2528_-39+2558del
ENST00000470512.6:c.-39+2581_-39+2611del ENSP00000499552.2:n.-39+2581_-39+2611del
ENST00000472183.6:c.-38-3678_-38-3648del ENSP00000499673.2:n.-38-3678_-38-3648del
ENST00000478585.6:c.-39+2581_-39+2611del ENSP00000499762.2:n.-39+2581_-39+2611del
ENST00000480232.6:c.-39+2385_-39+2415del ENSP00000499545.2:n.-39+2385_-39+2415del
ENST00000481039.6:c.-39+3026_-39+3056del ENSP00000499767.2:n.-39+3026_-39+3056del
ENST00000482112.6:c.-38-3678_-38-3648del ENSP00000499794.2:n.-38-3678_-38-3648del
ENST00000485673.6:c.-39+2385_-39+2415del ENSP00000499334.2:n.-39+2385_-39+2415del
ENST00000488546.6:c.-39+3116_-39+3146del ENSP00000499332.2:n.-39+3116_-39+3146del
ENST00000604005.6:c.-39+2602_-39+2632del ENSP00000474219.2:n.-39+2602_-39+2632del
ENST00000663479.2:c.-38-3678_-38-3648del ENSP00000499353.2:n.-38-3678_-38-3648del
ENST00000667293.2:c.-39+3030_-39+3060del ENSP00000499293.2:n.-39+3030_-39+3060del
ENST00000676826.2:c.2069-3678_2069-3648del ENSP00000504675.2:n.2069-3678_2069-3648del
ENST00000682803.1:c.-366+69_-366+99del ENSP00000507069.1:n.-366+69_-366+99del
ENST00000683015.1:c.909+1145_909+1175del ENSP00000506815.1:n.909+1145_909+1175del
ENST00000306090.12:c.44-3678_44-3648del ENSP00000304472.12:n.44-3678_44-3648del
ENST00000338783.7:c.139+69_139+99del ENSP00000345971.7:n.139+69_139+99del
ENST00000349036.8:c.2069-3678_2069-3648del ENSP00000265621.5:n.2069-3678_2069-3648del
ENST00000354359.12:c.139+69_139+99del ENSP00000346328.7:n.139+69_139+99del
ENST00000371085.8:c.139+69_139+99del MANE Select ENSP00000360126.3:n.139+69_139+99del
ENST00000371100.9:c.2069-3678_2069-3648del MANE Plus Clinical ENSP00000360141.3:n.2069-3678_2069-3648del
ENST00000419558.6:c.*43-3678_*43-3648del ENSP00000416234.2:n.*43-3678_*43-3648del
ENST00000423897.6:c.2069-3678_2069-3648del ENSP00000412356.2:n.2069-3678_2069-3648del
ENST00000453292.6:c.*43-3678_*43-3648del ENSP00000392000.2:n.*43-3678_*43-3648del
ENST00000461152.6:c.909+1145_909+1175del ENSP00000499274.1:n.909+1145_909+1175del
ENST00000481768.6:c.2227-3678_2227-3648del ENSP00000499644.2:n.2227-3678_2227-3648del
ENST00000490374.6:n.223-3678_223-3648del
ENST00000657090.1:c.-38-3678_-38-3648del ENSP00000499380.1:n.-38-3678_-38-3648del
ENST00000663479.1:c.-38-3678_-38-3648del ENSP00000499353.1:n.-38-3678_-38-3648del
ENST00000667293.1:c.11-3678_11-3648del ENSP00000499293.1:n.11-3678_11-3648del
ENST00000676826.1:c.2069-3678_2069-3648del ENSP00000504675.1:n.2069-3678_2069-3648del
ENST00000265620.11:c.139+69_139+99del ENSP00000265620.7:n.139+69_139+99del
ENST00000306090.11:c.93+115_93+145del ENSP00000304472.11:n.93+115_93+145del
ENST00000313949.11:c.*43-3678_*43-3648del ENSP00000323571.7:n.*43-3678_*43-3648del
ENST00000338783.6:c.106+69_106+99del ENSP00000345971.6:n.106+69_106+99del
ENST00000349036.7:c.188-3678_188-3648del ENSP00000265621.4:n.188-3678_188-3648del
ENST00000354359.11:c.139+69_139+99del ENSP00000346328.7:n.139+69_139+99del
ENST00000371075.7:c.*43-3678_*43-3648del MANE Plus Clinical ENSP00000360115.3:n.*43-3678_*43-3648del
ENST00000371081.5:c.139+69_139+99del ENSP00000360122.1:n.139+69_139+99del
ENST00000371085.7:c.139+69_139+99del ENSP00000360126.3:n.139+69_139+99del
ENST00000371095.7:c.139+69_139+99del ENSP00000360136.3:n.139+69_139+99del
ENST00000371098.6:c.*43-3678_*43-3648del ENSP00000360139.2:n.*43-3678_*43-3648del
ENST00000371100.8:c.2069-3678_2069-3648del ENSP00000360141.3:n.2069-3678_2069-3648del
ENST00000371102.8:c.2069-3678_2069-3648del ENSP00000360143.4:n.2069-3678_2069-3648del
ENST00000419558.5:c.384-3678_384-3648del
ENST00000423897.5:c.157-3678_157-3648del
ENST00000450130.5:c.228-3678_228-3648del
ENST00000453292.5:c.544-3678_544-3648del ENSP00000392000.1:n.544-3678_544-3648del
ENST00000461152.5:n.147+1145_147+1175del
ENST00000462499.5:n.259-3678_259-3648del
ENST00000464624.6:n.2355+69_2355+99del
ENST00000464788.5:n.67+2721_67+2751del
ENST00000464960.5:n.406+3116_406+3146del
ENST00000467227.5:n.123-3678_123-3648del
ENST00000467321.5:n.154+2888_154+2918del
ENST00000468895.5:n.50+3026_50+3056del
ENST00000469431.5:n.256+2528_256+2558del
ENST00000470512.5:n.210+2581_210+2611del
ENST00000472183.5:n.392-3678_392-3648del
ENST00000477931.5:n.254+2581_254+2611del
ENST00000478585.5:n.194+2581_194+2611del
ENST00000480232.5:n.155+2385_155+2415del
ENST00000480975.5:n.183+2581_183+2611del
ENST00000481039.5:n.56+3030_56+3060del
ENST00000481768.5:n.1324-3678_1324-3648del
ENST00000482112.5:n.259-3678_259-3648del
ENST00000484504.5:n.127+2581_127+2611del
ENST00000485673.5:n.426+2385_426+2415del
ENST00000488546.5:n.40+3116_40+3146del
ENST00000490374.5:n.255-3678_255-3648del
ENST00000491348.5:n.534-3678_534-3648del
ENST00000493744.5:n.233-3678_233-3648del
ENST00000604005.5:c.-39+2602_-39+2632del ENSP00000474219.1:n.-39+2602_-39+2632del
NM_000516.4:c.139+69_139+99del NP_000507.1:n.139+69_139+99del
NM_000516.5:c.139+69_139+99del NP_000507.1:n.139+69_139+99del
NM_001077488.2:c.139+69_139+99del NP_001070956.1:n.139+69_139+99del
NM_001077488.3:c.139+69_139+99del NP_001070956.1:n.139+69_139+99del
NM_001077489.2:c.139+69_139+99del NP_001070957.1:n.139+69_139+99del
NM_001077489.3:c.139+69_139+99del NP_001070957.1:n.139+69_139+99del
NM_001077490.1:c.*1-3678_*1-3648del NP_001070958.1:n.*1-3678_*1-3648del
NM_001077490.2:c.*1-3678_*1-3648del NP_001070958.1:n.*1-3678_*1-3648del
NM_001309840.1:c.-39+2581_-39+2611del NP_001296769.1:n.-39+2581_-39+2611del
NM_001309842.1:c.139+69_139+99del NP_001296771.1:n.139+69_139+99del
NM_001309861.1:c.-38-3678_-38-3648del NP_001296790.1:n.-38-3678_-38-3648del
NM_001309883.1:c.*159-3678_*159-3648del NP_001296812.1:n.*159-3678_*159-3648del
NM_016592.2:c.*43-3678_*43-3648del NP_057676.1:n.*43-3678_*43-3648del
NM_016592.3:c.*43-3678_*43-3648del NP_057676.1:n.*43-3678_*43-3648del
NM_080425.2:c.2069-3678_2069-3648del NP_536350.2:n.2069-3678_2069-3648del
NM_080425.3:c.2069-3678_2069-3648del NP_536350.2:n.2069-3678_2069-3648del
NM_080426.2:c.139+69_139+99del NP_536351.1:n.139+69_139+99del
NM_080426.3:c.139+69_139+99del NP_536351.1:n.139+69_139+99del
NR_003259.1:c.-4294967067+2581_-4294967067+2611del
NR_132273.1:n.406+3116_406+3146del
XM_017027812.2:c.2069-3678_2069-3648del XP_016883301.1:n.2069-3678_2069-3648del
XM_017027813.2:c.2069-3678_2069-3648del XP_016883302.1:n.2069-3678_2069-3648del
XM_017027814.2:c.2069-3678_2069-3648del XP_016883303.1:n.2069-3678_2069-3648del
XM_017027815.1:c.44-3678_44-3648del XP_016883304.1:n.44-3678_44-3648del
XM_017027816.1:c.-166+69_-166+99del XP_016883305.1:n.-166+69_-166+99del
XM_017027817.1:c.-39+2581_-39+2611del XP_016883306.1:n.-39+2581_-39+2611del
XM_017027819.1:c.-39+2602_-39+2632del XP_016883308.1:n.-39+2602_-39+2632del
XM_017027821.1:c.*43-3678_*43-3648del XP_016883310.1:n.*43-3678_*43-3648del
XM_017027822.1:c.*43-3678_*43-3648del XP_016883311.1:n.*43-3678_*43-3648del
XM_024451872.1:c.44-3678_44-3648del XP_024307640.1:n.44-3678_44-3648del
XM_024451875.1:c.-39+2602_-39+2632del XP_024307643.1:n.-39+2602_-39+2632del
XR_002958471.1:n.764+69_764+99del
NM_000516.6:c.139+69_139+99del NP_000507.1:n.139+69_139+99del
NM_001077488.4:c.139+69_139+99del NP_001070956.1:n.139+69_139+99del
NM_001077489.4:c.139+69_139+99del NP_001070957.1:n.139+69_139+99del
NM_001309840.2:c.-39+2581_-39+2611del NP_001296769.1:n.-39+2581_-39+2611del
NM_001309842.2:c.139+69_139+99del NP_001296771.1:n.139+69_139+99del
NM_001309861.2:c.-38-3678_-38-3648del NP_001296790.1:n.-38-3678_-38-3648del
NM_016592.4:c.*43-3678_*43-3648del NP_057676.1:n.*43-3678_*43-3648del
NM_080426.4:c.139+69_139+99del NP_536351.1:n.139+69_139+99del
NM_000516.7:c.139+69_139+99del MANE Select NP_000507.1:n.139+69_139+99del
NM_001077488.5:c.139+69_139+99del NP_001070956.1:n.139+69_139+99del
NM_001077490.3:c.*1-3678_*1-3648del NP_001070958.1:n.*1-3678_*1-3648del
NM_016592.5:c.*43-3678_*43-3648del MANE Plus Clinical NP_057676.1:n.*43-3678_*43-3648del
NM_080425.4:c.2069-3678_2069-3648del MANE Plus Clinical NP_536350.2:n.2069-3678_2069-3648del
Search 100 bp 5'
Search 100 bp 3'