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"referenceSequence": "http://reg.genome.network/refseq/RS391372" }, { "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN004601", "geneNCBI_id": 2896, "geneSymbol": "GRN", "hgvs": [ "ENST00000591740.5:c.373C>T" ], "proteinEffect": { "hgvs": "ENSP00000467022.1:p.Gln125Ter", "hgvsWellDefined": "ENSP00000467022.1:p.Gln125_Asp135del" }, "referenceSequence": "http://reg.genome.network/refseq/RS393090" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN004601", "geneNCBI_id": 2896, "geneSymbol": "GRN", "hgvs": [ "ENST00000592783.5:c.373C>T" ], "proteinEffect": { "hgvs": "ENSP00000467870.1:p.Gln125Ter", "hgvsWellDefined": "ENSP00000467870.1:p.Gln125_Met142del" }, "referenceSequence": "http://reg.genome.network/refseq/RS393804" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": 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"XP_024306498.1:p.Gln125_Leu593delinsCysProAspSerGlnPheGluCysProAspPheSerThrCysCysValMetValAspGlySerTrpGlyCysCysProMetProGlnAlaSerCysCysGluAspArgValHisCysCysProHisGlyAlaPheCysAspLeuValHisThrArgCysIleThrProThrGlyThrHisProLeuAlaLysLysLeuProAlaGlnArgThrAsnArgAlaValAlaLeuSerSerSerValMetCysProAspAlaArgSerArgCysProAspGlySerThrCysCysGluLeuProSerGlyLysTyrGlyCysCysProMetProAsnAlaThrCysCysSerAspHisLeuHisCysCysProGlnAspThrValCysAspLeuIleGlnSerLysCysLeuSerLysGluAsnAlaThrThrAspLeuLeuThrLysLeuProAlaHisThrValGlyAspValLysCysAspMetGluValSerCysProAspGlyTyrThrCysCysArgLeuGlnSerGlyAlaTrpGlyCysCysProPheThrGlnAlaValCysCysGluAspHisIleHisCysCysProAlaGlyPheThrCysAspThrGlnLysGlyThrCysGluGlnGlyProHisGlnValProTrpMetGluLysAlaProAlaHisLeuSerLeuProAspProGlnAlaLeuLysArgAspValProCysAspAsnValSerSerCysProSerSerAspThrCysCysGlnLeuThrSerGlyGluTrpGlyCysCysProIleProGluAlaValCysCysSerAspHisGlnHisCysCysProGlnGlyTyrThrCysValAlaGluGlyGlnCysGlnArgGlySerGluIleValAlaGlyLeuGluLysMetProAlaArgArgAlaSerLeuSerHisProArgAspIleGlyCysAspGlnHisThrSerCysProValGlyGlnThrCysCysProSerLeuGlyGlySerTrpAlaCysCysGlnLeuProHisAlaValCysCysGluAspArgGlnHisCysCysProAlaGlyTyrThrCysAsnValLysAlaArgSerCysGluLysGluValValSerAlaGlnProAlaThrPheLeuAlaArgSerProHisValGlyValLysAspValGluCysGlyGluGlyHisPheCysHisAspAsnGlnThrCysCysArgAspAsnArgGlnGlyTrpAlaCysCysProTyrArgGlnGlyValCysCysAlaAspArgArgHisCysCysProAlaGlyPheArgCysAlaAlaArgGlyThrLysCysLeuArgArgGluAlaProArgTrpAspAlaProLeuArgAspProAlaLeuArgGlnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584261" }, { "@id": "http://reg.genome.network/allele/PA225240", "coordinates": [ { "allele": "T", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN004601", "geneNCBI_id": 2896, "geneSymbol": "GRN", "hgvs": [ "NM_002087.4:c.373C>T" ], "proteinEffect": { "hgvs": "NP_002078.1:p.Gln125Ter", "hgvsWellDefined": "NP_002078.1:p.Gln125_Leu593delinsCysProAspSerGlnPheGluCysProAspPheSerThrCysCysValMetValAspGlySerTrpGlyCysCysProMetProGlnAlaSerCysCysGluAspArgValHisCysCysProHisGlyAlaPheCysAspLeuValHisThrArgCysIleThrProThrGlyThrHisProLeuAlaLysLysLeuProAlaGlnArgThrAsnArgAlaValAlaLeuSerSerSerValMetCysProAspAlaArgSerArgCysProAspGlySerThrCysCysGluLeuProSerGlyLysTyrGlyCysCysProMetProAsnAlaThrCysCysSerAspHisLeuHisCysCysProGlnAspThrValCysAspLeuIleGlnSerLysCysLeuSerLysGluAsnAlaThrThrAspLeuLeuThrLysLeuProAlaHisThrValGlyAspValLysCysAspMetGluValSerCysProAspGlyTyrThrCysCysArgLeuGlnSerGlyAlaTrpGlyCysCysProPheThrGlnAlaValCysCysGluAspHisIleHisCysCysProAlaGlyPheThrCysAspThrGlnLysGlyThrCysGluGlnGlyProHisGlnValProTrpMetGluLysAlaProAlaHisLeuSerLeuProAspProGlnAlaLeuLysArgAspValProCysAspAsnValSerSerCysProSerSerAspThrCysCysGlnLeuThrSerGlyGluTrpGlyCysCysProIleProGluAlaValCysCysSerAspHisGlnHisCysCysProGlnGlyTyrThrCysValAlaGluGlyGlnCysGlnArgGlySerGluIleValAlaGlyLeuGluLysMetProAlaArgArgAlaSerLeuSerHisProArgAspIleGlyCysAspGlnHisThrSerCysProValGlyGlnThrCysCysProSerLeuGlyGlySerTrpAlaCysCysGlnLeuProHisAlaValCysCysGluAspArgGlnHisCysCysProAlaGlyTyrThrCysAsnValLysAlaArgSerCysGluLysGluValValSerAlaGlnProAlaThrPheLeuAlaArgSerProHisValGlyValLysAspValGluCysGlyGluGlyHisPheCysHisAspAsnGlnThrCysCysArgAspAsnArgGlnGlyTrpAlaCysCysProTyrArgGlnGlyValCysCysAlaAspArgArgHisCysCysProAlaGlyPheArgCysAlaAlaArgGlyThrLysCysLeuArgArgGluAlaProArgTrpAspAlaProLeuArgAspProAlaLeuArgGlnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727242", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000053867.8:c.373C>T" }, "RefSeq": { "hgvs": "NM_002087.4:c.373C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000053867.2:p.Gln125Ter" }, "RefSeq": { "hgvs": "NP_002078.1:p.Gln125Ter" } } } } ], "type": "nucleotide" }