Canonical Allele Identifier: CA636607695
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs1569029761
gnomAD v2: 20-57484882-CCCTGCG-C
gnomAD v4: 20-58909827-CCCTGCG-C
MyVariant Identifiers: chr20:g.57484883_57484888del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58909829_58909834del , CM000682.2:g.58909829_58909834del GRCh38
NC_000020.10:g.57484884_57484889del , CM000682.1:g.57484884_57484889del GRCh37
NC_000020.9:g.56918279_56918284del NCBI36
NG_016194.1:g.75090_75095del
NG_016194.2:g.75090_75095del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2723+25_2723+30del ENSP00000265621.6:n.2723+25_2723+30del
ENST00000419558.7:c.*697+25_*697+30del ENSP00000416234.2:n.*697+25_*697+30del
ENST00000453292.7:c.1438+25_1438+30del ENSP00000392000.2:n.1438+25_1438+30del
ENST00000462499.6:c.620+25_620+30del ENSP00000499758.2:n.620+25_620+30del
ENST00000464624.7:c.*681+25_*681+30del ENSP00000499607.2:n.*681+25_*681+30del
ENST00000464788.6:c.662+25_662+30del ENSP00000499239.2:n.662+25_662+30del
ENST00000467227.6:c.620+25_620+30del ENSP00000499681.2:n.620+25_620+30del
ENST00000467321.6:c.662+25_662+30del ENSP00000499523.2:n.662+25_662+30del
ENST00000468895.6:c.839+25_839+30del ENSP00000499551.2:n.839+25_839+30del
ENST00000469431.6:c.662+25_662+30del ENSP00000499654.2:n.662+25_662+30del
ENST00000470512.6:c.665+25_665+30del ENSP00000499552.2:n.665+25_665+30del
ENST00000472183.6:c.662+25_662+30del ENSP00000499673.2:n.662+25_662+30del
ENST00000475610.2:n.1345+25_1345+30del
ENST00000476935.6:c.617+25_617+30del ENSP00000499409.2:n.617+25_617+30del
ENST00000478585.6:c.620+25_620+30del ENSP00000499762.2:n.620+25_620+30del
ENST00000480232.6:c.665+25_665+30del ENSP00000499545.2:n.665+25_665+30del
ENST00000481039.6:c.620+25_620+30del ENSP00000499767.2:n.620+25_620+30del
ENST00000482112.6:c.617+25_617+30del ENSP00000499794.2:n.617+25_617+30del
ENST00000485673.6:c.620+25_620+30del ENSP00000499334.2:n.620+25_620+30del
ENST00000488546.6:c.620+25_620+30del ENSP00000499332.2:n.620+25_620+30del
ENST00000488652.6:c.662+25_662+30del ENSP00000499435.2:n.662+25_662+30del
ENST00000492907.6:c.620+25_620+30del ENSP00000499443.2:n.620+25_620+30del
ENST00000603546.2:c.662+25_662+30del ENSP00000474802.2:n.662+25_662+30del
ENST00000604005.6:c.662+25_662+30del ENSP00000474219.2:n.662+25_662+30del
ENST00000663479.2:c.665+25_665+30del ENSP00000499353.2:n.665+25_665+30del
ENST00000667293.2:c.662+25_662+30del ENSP00000499293.2:n.662+25_662+30del
ENST00000676826.2:c.2771+25_2771+30del ENSP00000504675.2:n.2771+25_2771+30del
ENST00000682092.1:n.5123+25_5123+30del
ENST00000682134.1:n.2765+25_2765+30del
ENST00000682411.1:n.2934+25_2934+30del
ENST00000682590.1:n.5026+25_5026+30del
ENST00000682680.1:n.5040+25_5040+30del
ENST00000682803.1:c.512+25_512+30del ENSP00000507069.1:n.512+25_512+30del
ENST00000682829.1:n.3167+25_3167+30del
ENST00000682917.1:n.1367+25_1367+30del
ENST00000682986.1:n.5281_5286del
ENST00000683015.1:c.1609+25_1609+30del ENSP00000506815.1:n.1609+25_1609+30del
ENST00000683632.1:n.5369+25_5369+30del
ENST00000683932.1:n.6615+25_6615+30del
ENST00000684284.1:n.3217+25_3217+30del
ENST00000684466.1:n.1478+25_1478+30del
ENST00000684644.1:n.5159+25_5159+30del
ENST00000684761.1:n.1332+25_1332+30del
ENST00000306090.12:c.743+25_743+30del ENSP00000304472.12:n.743+25_743+30del
ENST00000354359.12:c.842+25_842+30del ENSP00000346328.7:n.842+25_842+30del
ENST00000371085.8:c.839+25_839+30del MANE Select ENSP00000360126.3:n.839+25_839+30del
ENST00000371100.9:c.2768+25_2768+30del MANE Plus Clinical ENSP00000360141.3:n.2768+25_2768+30del
ENST00000656419.1:c.368+25_368+30del ENSP00000499614.1:n.368+25_368+30del
ENST00000657090.1:c.662+25_662+30del ENSP00000499380.1:n.662+25_662+30del
ENST00000667293.1:c.710+25_710+30del ENSP00000499293.1:n.710+25_710+30del
ENST00000265620.11:c.794+25_794+30del ENSP00000265620.7:n.794+25_794+30del
ENST00000306090.11:c.131+25_131+30del ENSP00000304472.11:n.131+25_131+30del
ENST00000313949.11:c.*742+25_*742+30del ENSP00000323571.7:n.*742+25_*742+30del
ENST00000354359.11:c.842+25_842+30del ENSP00000346328.7:n.842+25_842+30del
ENST00000371075.7:c.*745+25_*745+30del MANE Plus Clinical ENSP00000360115.3:n.*745+25_*745+30del
ENST00000371085.7:c.839+25_839+30del ENSP00000360126.3:n.839+25_839+30del
ENST00000371095.7:c.797+25_797+30del ENSP00000360136.3:n.797+25_797+30del
ENST00000371100.8:c.2768+25_2768+30del ENSP00000360141.3:n.2768+25_2768+30del
ENST00000371102.8:c.2726+25_2726+30del ENSP00000360143.4:n.2726+25_2726+30del
ENST00000464624.6:n.3055+25_3055+30del
ENST00000476196.5:n.1132+25_1132+30del
ENST00000477931.5:n.954+25_954+30del
ENST00000480232.5:n.858+25_858+30del
ENST00000480975.5:n.838+25_838+30del
ENST00000487862.5:n.1073+25_1073+30del
ENST00000488546.5:n.698+25_698+30del
ENST00000488652.5:n.929+25_929+30del
ENST00000494081.5:n.394+25_394+30del
ENST00000496934.5:n.2128+25_2128+30del
NM_000516.4:c.839+25_839+30del NP_000507.1:n.839+25_839+30del
NM_000516.5:c.839+25_839+30del NP_000507.1:n.839+25_839+30del
NM_001077488.2:c.842+25_842+30del NP_001070956.1:n.842+25_842+30del
NM_001077488.3:c.842+25_842+30del NP_001070956.1:n.842+25_842+30del
NM_001077489.2:c.794+25_794+30del NP_001070957.1:n.794+25_794+30del
NM_001077489.3:c.794+25_794+30del NP_001070957.1:n.794+25_794+30del
NM_001077490.1:c.*700+25_*700+30del NP_001070958.1:n.*700+25_*700+30del
NM_001077490.2:c.*700+25_*700+30del NP_001070958.1:n.*700+25_*700+30del
NM_001309840.1:c.662+25_662+30del NP_001296769.1:n.662+25_662+30del
NM_001309861.1:c.662+25_662+30del NP_001296790.1:n.662+25_662+30del
NM_016592.2:c.*745+25_*745+30del NP_057676.1:n.*745+25_*745+30del
NM_016592.3:c.*745+25_*745+30del NP_057676.1:n.*745+25_*745+30del
NM_080425.2:c.2768+25_2768+30del NP_536350.2:n.2768+25_2768+30del
NM_080425.3:c.2768+25_2768+30del NP_536350.2:n.2768+25_2768+30del
NM_080426.2:c.797+25_797+30del NP_536351.1:n.797+25_797+30del
NM_080426.3:c.797+25_797+30del NP_536351.1:n.797+25_797+30del
NR_003259.1:c.-4294966367+25_-4294966367+30del
XM_017027812.2:c.2771+25_2771+30del XP_016883301.1:n.2771+25_2771+30del
XM_017027813.2:c.2726+25_2726+30del XP_016883302.1:n.2726+25_2726+30del
XM_017027814.2:c.2723+25_2723+30del XP_016883303.1:n.2723+25_2723+30del
XM_017027815.1:c.698+25_698+30del XP_016883304.1:n.698+25_698+30del
XM_017027816.1:c.617+25_617+30del XP_016883305.1:n.617+25_617+30del
XM_017027817.1:c.617+25_617+30del XP_016883306.1:n.617+25_617+30del
XM_017027818.2:c.617+25_617+30del XP_016883307.1:n.617+25_617+30del
XM_017027819.1:c.617+25_617+30del XP_016883308.1:n.617+25_617+30del
XM_017027820.1:c.617+25_617+30del XP_016883309.1:n.617+25_617+30del
XM_024451872.1:c.743+25_743+30del XP_024307640.1:n.743+25_743+30del
XM_024451873.1:c.662+25_662+30del XP_024307641.1:n.662+25_662+30del
XM_024451874.1:c.662+25_662+30del XP_024307642.1:n.662+25_662+30del
XM_024451875.1:c.662+25_662+30del XP_024307643.1:n.662+25_662+30del
XR_002958471.1:n.1546+25_1546+30del
NM_000516.6:c.839+25_839+30del NP_000507.1:n.839+25_839+30del
NM_001077488.4:c.842+25_842+30del NP_001070956.1:n.842+25_842+30del
NM_001077489.4:c.794+25_794+30del NP_001070957.1:n.794+25_794+30del
NM_001309840.2:c.662+25_662+30del NP_001296769.1:n.662+25_662+30del
NM_001309861.2:c.662+25_662+30del NP_001296790.1:n.662+25_662+30del
NM_016592.4:c.*745+25_*745+30del NP_057676.1:n.*745+25_*745+30del
NM_080426.4:c.797+25_797+30del NP_536351.1:n.797+25_797+30del
NM_000516.7:c.839+25_839+30del MANE Select NP_000507.1:n.839+25_839+30del
NM_001077488.5:c.842+25_842+30del NP_001070956.1:n.842+25_842+30del
NM_001077490.3:c.*700+25_*700+30del NP_001070958.1:n.*700+25_*700+30del
NM_016592.5:c.*745+25_*745+30del MANE Plus Clinical NP_057676.1:n.*745+25_*745+30del
NM_080425.4:c.2768+25_2768+30del MANE Plus Clinical NP_536350.2:n.2768+25_2768+30del
Search 100 bp 5'
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