{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367580092", "communityStandardTitle": [ "NM_005228.5(EGFR):c.2483T>A (p.Leu828Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4170224", "active": true, "id": "COSM4170224" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.55259425T>A?assembly=hg19", "id": "chr7:g.55259425T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.55191732T>A?assembly=hg38", "id": "chr7:g.55191732T>A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55191732, "referenceAllele": "T", "start": 55191731 } ], "hgvs": [ "NC_000007.14:g.55191732T>A", "CM000669.2:g.55191732T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55259425, "referenceAllele": "T", "start": 55259424 } ], "hgvs": [ "NC_000007.13:g.55259425T>A", "CM000669.1:g.55259425T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 55226919, "referenceAllele": "T", "start": 55226918 } ], "hgvs": [ "NC_000007.12:g.55226919T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 177701, "referenceAllele": "T", "start": 177700 } ], "hgvs": [ "NG_007726.3:g.177701T>A", "LRG_304:g.177701T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000672" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "T", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000450046.2:c.2324T>A" ], "proteinEffect": { "hgvs": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS904989" }, { "coordinates": [ { "allele": "A", "end": 832, "referenceAllele": "T", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000700145.1:c.832T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910995" }, { "coordinates": [ { "allele": "A", "end": 2744, "referenceAllele": "T", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000275493.7:c.2483T>A" ], "proteinEffect": { "hgvs": "ENSP00000275493.2:p.Leu828Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS743395", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275493.7:c.2483T>A" }, "RefSeq": { "hgvs": "NM_005228.5:c.2483T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275493.2:p.Leu828Ter" }, "RefSeq": { "hgvs": "NP_005219.2:p.Leu828Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2660, "referenceAllele": "T", "start": 2659 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000275493.6:c.2483T>A" ], "proteinEffect": { "hgvs": "ENSP00000275493.2:p.Leu828Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS252621" }, { "coordinates": [ { "allele": "A", "end": 2162, "endIntronDirection": "+", "endIntronOffset": 18804, "referenceAllele": "T", "start": 2162, "startIntronDirection": "+", "startIntronOffset": 18803 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000442591.5:c.*28+18804T>A" ], "proteinEffect": { "hgvs": "ENSP00000410031.1:n.*28+18804T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS296950" }, { "coordinates": [ { "allele": "A", "end": 2594, "referenceAllele": "T", "start": 2593 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000454757.6:c.2348T>A" ], "proteinEffect": { "hgvs": "ENSP00000395243.3:p.Leu783Ter", "hgvsWellDefined": "ENSP00000395243.3:p.Leu783_Ala1165delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302708" }, { "coordinates": [ { "allele": "A", "end": 2605, "referenceAllele": "T", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "ENST00000455089.5:c.2348T>A" ], "proteinEffect": { "hgvs": "ENSP00000415559.1:p.Leu783Ter", "hgvsWellDefined": "ENSP00000415559.1:p.Leu783_Gln1091delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGlyGluTrpLeuValTrpLysGlnSerCysSerSerThrSerSerThrHisSerAlaAlaAlaSerLeuGlnCysProSerGlnValLeuProProAlaSerProGluGlyGluThrValAlaAspLeuGlnThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302870" }, { "@id": "http://reg.genome.network/allele/PA3249455397", "coordinates": [ { "allele": "A", "end": 2729, "referenceAllele": "T", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.3:c.2483T>A", "LRG_304t1:c.2483T>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Leu828Ter", "hgvsWellDefined": "NP_005219.2:p.Leu828_Ala1210delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030340" }, { "coordinates": [ { "allele": "A", "end": 2605, "referenceAllele": "T", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346897.1:c.2348T>A" ], "proteinEffect": { "hgvs": "NP_001333826.1:p.Leu783Ter", "hgvsWellDefined": "NP_001333826.1:p.Leu783_Gln1091delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGlyGluTrpLeuValTrpLysGlnSerCysSerSerThrSerSerThrHisSerAlaAlaAlaSerLeuGlnCysProSerGlnValLeuProProAlaSerProGluGlyGluThrValAlaAspLeuGlnThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517697" }, { "coordinates": [ { "allele": "A", "end": 2740, "referenceAllele": "T", "start": 2739 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346898.1:c.2483T>A" ], "proteinEffect": { "hgvs": "NP_001333827.1:p.Leu828Ter", "hgvsWellDefined": "NP_001333827.1:p.Leu828_Gln1136delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGlyGluTrpLeuValTrpLysGlnSerCysSerSerThrSerSerThrHisSerAlaAlaAlaSerLeuGlnCysProSerGlnValLeuProProAlaSerProGluGlyGluThrValAlaAspLeuGlnThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517698" }, { "coordinates": [ { "allele": "A", "end": 2605, "referenceAllele": "T", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346899.1:c.2348T>A" ], "proteinEffect": { "hgvs": "NP_001333828.1:p.Leu783Ter", "hgvsWellDefined": "NP_001333828.1:p.Leu783_Ala1165delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517699" }, { "coordinates": [ { "allele": "A", "end": 2537, "referenceAllele": "T", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346900.1:c.2324T>A" ], "proteinEffect": { "hgvs": "NP_001333829.1:p.Leu775Ter", "hgvsWellDefined": "NP_001333829.1:p.Leu775_Ala1157delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517700" }, { "coordinates": [ { "allele": "A", "end": 1939, "referenceAllele": "T", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346941.1:c.1682T>A" ], "proteinEffect": { "hgvs": "NP_001333870.1:p.Leu561Ter", "hgvsWellDefined": "NP_001333870.1:p.Leu561_Ala943delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517714" }, { "@id": "http://reg.genome.network/allele/PA3249455397", "coordinates": [ { "allele": "A", "end": 2740, "referenceAllele": "T", "start": 2739 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.4:c.2483T>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Leu828Ter", "hgvsWellDefined": "NP_005219.2:p.Leu828_Ala1210delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525294" }, { "@id": "http://reg.genome.network/allele/PA3249455397", "coordinates": [ { "allele": "A", "end": 2744, "referenceAllele": "T", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_005228.5:c.2483T>A" ], "proteinEffect": { "hgvs": "NP_005219.2:p.Leu828Ter", "hgvsWellDefined": "NP_005219.2:p.Leu828_Ala1210delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000275493.7:c.2483T>A" }, "RefSeq": { "hgvs": "NM_005228.5:c.2483T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000275493.2:p.Leu828Ter" }, "RefSeq": { "hgvs": "NP_005219.2:p.Leu828Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2609, "referenceAllele": "T", "start": 2608 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346897.2:c.2348T>A" ], "proteinEffect": { "hgvs": "NP_001333826.1:p.Leu783Ter", "hgvsWellDefined": "NP_001333826.1:p.Leu783_Gln1091delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGlyGluTrpLeuValTrpLysGlnSerCysSerSerThrSerSerThrHisSerAlaAlaAlaSerLeuGlnCysProSerGlnValLeuProProAlaSerProGluGlyGluThrValAlaAspLeuGlnThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687442" }, { "coordinates": [ { "allele": "A", "end": 2744, "referenceAllele": "T", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346898.2:c.2483T>A" ], "proteinEffect": { "hgvs": "NP_001333827.1:p.Leu828Ter", "hgvsWellDefined": "NP_001333827.1:p.Leu828_Gln1136delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGlyGluTrpLeuValTrpLysGlnSerCysSerSerThrSerSerThrHisSerAlaAlaAlaSerLeuGlnCysProSerGlnValLeuProProAlaSerProGluGlyGluThrValAlaAspLeuGlnThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687443" }, { "coordinates": [ { "allele": "A", "end": 2515, "referenceAllele": "T", "start": 2514 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346900.2:c.2324T>A" ], "proteinEffect": { "hgvs": "NP_001333829.1:p.Leu775Ter", "hgvsWellDefined": "NP_001333829.1:p.Leu775_Ala1157delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687444" }, { "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "T", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346941.2:c.1682T>A" ], "proteinEffect": { "hgvs": "NP_001333870.1:p.Leu561Ter", "hgvsWellDefined": "NP_001333870.1:p.Leu561_Ala943delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687456" }, { "coordinates": [ { "allele": "A", "end": 2609, "referenceAllele": "T", "start": 2608 } ], "gene": "http://reg.genome.network/gene/GN003236", "geneNCBI_id": 1956, "geneSymbol": "EGFR", "hgvs": [ "NM_001346899.2:c.2348T>A" ], "proteinEffect": { "hgvs": "NP_001333828.1:p.Leu783Ter", "hgvsWellDefined": "NP_001333828.1:p.Leu783_Ala1165delinsGluAspArgArgLeuValHisArgAspLeuAlaAlaArgAsnValLeuValLysThrProGlnHisValLysIleThrAspPheGlyLeuAlaLysLeuLeuGlyAlaGluGluLysGluTyrHisAlaGluGlyGlyLysValProIleLysTrpMetAlaLeuGluSerIleLeuHisArgIleTyrThrHisGlnSerAspValTrpSerTyrGlyValThrValTrpGluLeuMetThrPheGlySerLysProTyrAspGlyIleProAlaSerGluIleSerSerIleLeuGluLysGlyGluArgLeuProGlnProProIleCysThrIleAspValTyrMetIleMetValLysCysTrpMetIleAspAlaAspSerArgProLysPheArgGluLeuIleIleGluPheSerLysMetAlaArgAspProGlnArgTyrLeuValIleGlnGlyAspGluArgMetHisLeuProSerProThrAspSerAsnPheTyrArgAlaLeuMetAspGluGluAspMetAspAspValValAspAlaAspGluTyrLeuIleProGlnGlnGlyPhePheSerSerProSerThrSerArgThrProLeuLeuSerSerLeuSerAlaThrSerAsnAsnSerThrValAlaCysIleAspArgAsnGlyLeuGlnSerCysProIleLysGluAspSerPheLeuGlnArgTyrSerSerAspProThrGlyAlaLeuThrGluAspSerIleAspAspThrPheLeuProValProGluTyrIleAsnGlnSerValProLysArgProAlaGlySerValGlnAsnProValTyrHisAsnGlnProLeuAsnProAlaProSerArgAspProHisTyrGlnAspProHisSerThrAlaValGlyAsnProGluTyrLeuAsnThrValGlnProThrCysValAsnSerThrPheAspSerProAlaHisTrpAlaGlnLysGlySerHisGlnIleSerLeuAspAsnProAspTyrGlnGlnAspPhePheProLysGluAlaLysProAsnGlyIlePheLysGlySerThrAlaGluAsnAlaGluTyrLeuArgValAlaProGlnSerSerGluPheIleGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719000" } ], "type": "nucleotide" }