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4445, "referenceAllele": "G", "start": 4444 } ], "gene": "http://reg.genome.network/gene/GN029941", "geneNCBI_id": 57798, "geneSymbol": "GATAD1", "hgvs": [ "XR_927494.3:n.4445G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608558" }, { "coordinates": [ { "allele": "A", "end": 4376, "referenceAllele": "G", "start": 4375 } ], "gene": "http://reg.genome.network/gene/GN029941", "geneNCBI_id": 57798, "geneSymbol": "GATAD1", "hgvs": [ "XR_927503.3:n.4376G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608560" }, { "@id": "http://reg.genome.network/allele/PA2741818147", "coordinates": [ { "allele": "T", "end": 2873, "referenceAllele": "C", "start": 2872 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.3:c.2788C>T" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Gln930Ter", "hgvsWellDefined": "NP_000457.1:p.Gln930_Ala1283delinsAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662453", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000248633.9:c.2788C>T" }, "RefSeq": { "hgvs": "NM_000466.3:c.2788C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000248633.4:p.Gln930Ter" }, "RefSeq": { "hgvs": "NP_000457.1:p.Gln930Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826665049", "coordinates": [ { "allele": "T", "end": 2702, "referenceAllele": "C", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282677.2:c.2617C>T" ], "proteinEffect": { "hgvs": "NP_001269606.1:p.Gln873Ter", "hgvsWellDefined": "NP_001269606.1:p.Gln873_Ala1226delinsAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681861" }, { "@id": "http://reg.genome.network/allele/PA2826665893", "coordinates": [ { "allele": "T", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.2:c.2164C>T" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Gln722Ter", "hgvsWellDefined": "NP_001269607.1:p.Gln722_Ala1075delinsAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681862" } ], "type": "nucleotide" }