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}, "referenceSequence": "http://reg.genome.network/refseq/RS290087" }, { "coordinates": [ { "allele": "T", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000438045.5:c.1648C>T" ], "proteinEffect": { "hgvs": "ENSP00000410438.1:p.Arg550Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS294744" }, { "coordinates": [ { "allele": "T", "end": 2653, "referenceAllele": "C", "start": 2652 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000484913.5:n.2653C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324059" }, { "coordinates": [ { "allele": "T", "end": 2506, "referenceAllele": "C", "start": 2505 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "ENST00000496420.5:n.2506C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332889" }, { "@id": "http://reg.genome.network/allele/PA645408697", "coordinates": [ { "allele": "T", "end": 2710, "referenceAllele": "C", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.2:c.2614C>T" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Arg872Ter", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022148" }, { "@id": "http://reg.genome.network/allele/PA2826665848", "coordinates": [ { "allele": "T", "end": 2745, "referenceAllele": "C", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.1:c.1990C>T" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Arg664Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022149" }, { "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XM_005250433.3:c.865C>T" ], "proteinEffect": { "hgvs": "XP_005250490.1:p.Arg289Ter", "hgvsWellDefined": "XP_005250490.1:p.Arg289_Ala700delinsGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059168" }, { "coordinates": [ { "allele": "T", "end": 2710, "referenceAllele": "C", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_242246.3:n.2710C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116232" }, { "coordinates": [ { "allele": "T", "end": 1641, "referenceAllele": "C", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XM_017012319.2:c.865C>T" ], "proteinEffect": { "hgvs": "XP_016867808.1:p.Arg289Ter", "hgvsWellDefined": "XP_016867808.1:p.Arg289_Ala700delinsGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565949" }, { "coordinates": [ { "allele": "T", "end": 1641, "referenceAllele": "C", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_001744808.2:n.1641C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593459" }, { "coordinates": [ { "allele": "T", "end": 2661, "referenceAllele": "C", "start": 2660 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "XR_242246.5:n.2661C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605897" }, { "@id": "http://reg.genome.network/allele/PA645408697", "coordinates": [ { "allele": "T", "end": 2699, "referenceAllele": "C", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_000466.3:c.2614C>T" ], "proteinEffect": { "hgvs": "NP_000457.1:p.Arg872Ter", "hgvsWellDefined": "NP_000457.1:p.Arg872_Ala1283delinsGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662453", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000248633.9:c.2614C>T" }, "RefSeq": { "hgvs": "NM_000466.3:c.2614C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000248633.4:p.Arg872Ter" }, "RefSeq": { "hgvs": "NP_000457.1:p.Arg872Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826665004", "coordinates": [ { "allele": "T", "end": 2528, "referenceAllele": "C", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282677.2:c.2443C>T" ], "proteinEffect": { "hgvs": "NP_001269606.1:p.Arg815Ter", "hgvsWellDefined": "NP_001269606.1:p.Arg815_Ala1226delinsGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681861" }, { "@id": "http://reg.genome.network/allele/PA2826665848", "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN008850", "geneNCBI_id": 5189, "geneSymbol": "PEX1", "hgvs": [ "NM_001282678.2:c.1990C>T" ], "proteinEffect": { "hgvs": "NP_001269607.1:p.Arg664Ter", "hgvsWellDefined": "NP_001269607.1:p.Arg664_Ala1075delinsGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681862" } ], "type": "nucleotide" }