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"NP_000427.1:p.Arg217_Asn520delinsAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662443", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000196371.10:c.649C>T" }, "RefSeq": { "hgvs": "NM_000436.4:c.649C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000196371.5:p.Arg217Ter" }, "RefSeq": { "hgvs": "NP_000427.1:p.Arg217Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828135933", "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "C", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN008527", "geneNCBI_id": 5019, "geneSymbol": "OXCT1", "hgvs": [ "NM_001364299.2:c.670C>T" ], "proteinEffect": { "hgvs": "NP_001351228.1:p.Arg224Ter", "hgvsWellDefined": "NP_001351228.1:p.Arg224_Asn527delinsAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690864" }, { "@id": "http://reg.genome.network/allele/PA2828136016", "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN008527", "geneNCBI_id": 5019, "geneSymbol": "OXCT1", "hgvs": [ "NM_001364300.2:c.670C>T" ], "proteinEffect": { "hgvs": "NP_001351229.1:p.Arg224Ter", "hgvsWellDefined": "NP_001351229.1:p.Arg224_Asn527delinsAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690865" }, { "@id": "http://reg.genome.network/allele/PA2828136096", "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008527", "geneNCBI_id": 5019, "geneSymbol": "OXCT1", "hgvs": [ "NM_001364301.2:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001351230.1:p.Arg217Ter", "hgvsWellDefined": "NP_001351230.1:p.Arg217_Asn518delinsAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690866" }, { "@id": "http://reg.genome.network/allele/PA2828136201", "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008527", "geneNCBI_id": 5019, "geneSymbol": "OXCT1", "hgvs": [ "NM_001364302.2:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001351231.1:p.Arg217Ter", "hgvsWellDefined": "NP_001351231.1:p.Arg217_Asn490delinsAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690867" }, { "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008527", "geneNCBI_id": 5019, "geneSymbol": "OXCT1", "hgvs": [ "NR_157114.2:n.716C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704992" }, { "@id": "http://reg.genome.network/allele/PA2499253141", "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "C", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN008527", "geneNCBI_id": 5019, "geneSymbol": "OXCT1", "hgvs": [ "NM_001364303.2:c.91C>T" ], "proteinEffect": { "hgvs": "NP_001351232.1:p.Arg31Ter", "hgvsWellDefined": "NP_001351232.1:p.Arg31_Asn334delinsAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720843" } ], "type": "nucleotide" }