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"NP_001307944.1:p.Trp20_Asp294delinsSerLeuLysTyrLysThrProAspPheGluSerThrGlyLeuTyrSerAlaMetProArgAspIleLeuIleValValGlyAsnGluIleIleGluAlaProMetAlaTrpArgSerArgPhePheGluTyrArgAlaTyrArgSerIleIleLysAspTyrPheHisArgGlyAlaLysTrpThrThrAlaProLysProThrMetAlaAspGluLeuTyrAsnGlnAspTyrProIleHisSerValGluAspArgHisLysLeuAlaAlaGlnGlyLysPheValThrThrGluPheGluProCysPheAspAlaAlaAspPheIleArgAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513967" }, { "@id": "http://reg.genome.network/allele/PA340669", "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN004175", "geneNCBI_id": 2628, "geneSymbol": "GATM", "hgvs": [ "NM_001482.3:c.447G>A" ], "proteinEffect": { "hgvs": "NP_001473.1:p.Trp149Ter", "hgvsWellDefined": "NP_001473.1:p.Trp149_Asp423delinsSerLeuLysTyrLysThrProAspPheGluSerThrGlyLeuTyrSerAlaMetProArgAspIleLeuIleValValGlyAsnGluIleIleGluAlaProMetAlaTrpArgSerArgPhePheGluTyrArgAlaTyrArgSerIleIleLysAspTyrPheHisArgGlyAlaLysTrpThrThrAlaProLysProThrMetAlaAspGluLeuTyrAsnGlnAspTyrProIleHisSerValGluAspArgHisLysLeuAlaAlaGlnGlyLysPheValThrThrGluPheGluProCysPheAspAlaAlaAspPheIleArgAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665009", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396659.8:c.447G>A" }, "RefSeq": { "hgvs": "NM_001482.3:c.447G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379895.3:p.Trp149Ter" }, "RefSeq": { "hgvs": "NP_001473.1:p.Trp149Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916024691", "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN004175", "geneNCBI_id": 2628, "geneSymbol": "GATM", "hgvs": [ "NM_001321015.2:c.60G>A" ], "proteinEffect": { "hgvs": "NP_001307944.1:p.Trp20Ter", "hgvsWellDefined": "NP_001307944.1:p.Trp20_Asp294delinsSerLeuLysTyrLysThrProAspPheGluSerThrGlyLeuTyrSerAlaMetProArgAspIleLeuIleValValGlyAsnGluIleIleGluAlaProMetAlaTrpArgSerArgPhePheGluTyrArgAlaTyrArgSerIleIleLysAspTyrPheHisArgGlyAlaLysTrpThrThrAlaProLysProThrMetAlaAspGluLeuTyrAsnGlnAspTyrProIleHisSerValGluAspArgHisLysLeuAlaAlaGlnGlyLysPheValThrThrGluPheGluProCysPheAspAlaAlaAspPheIleArgAlaGlyArgAspIlePheAlaGlnArgSerGlnValThrAsnTyrLeuGlyIleGluTrpMetArgArgHisLeuAlaProAspTyrArgValHisIleIleSerPheLysAspProAsnProMetHisIleAspAlaThrPheAsnIleIleGlyProGlyIleValLeuSerAsnProAspArgProCysHisGlnIleAspLeuPheLysLysAlaGlyTrpThrIleIleThrProProThrProIleIleProAspAspHisProLeuTrpMetSerSerLysTrpLeuSerMetAsnValLeuMetLeuAspGluLysArgValMetValAspAlaAsnGluValProIleGlnLysMetPheGluLysLeuGlyIleThrThrIleLysValAsnIleArgAsnAlaAsnSerLeuGlyGlyGlyPheHisCysTrpThrCysAspValArgArgArgGlyThrLeuGlnSerTyrLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685146" } ], "type": "nucleotide" }