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"XP_011533935.1:p.Gln399_Phe693delinsValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552108" }, { "coordinates": [ { "allele": "T", "end": 1586, "referenceAllele": "C", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010591.1:c.1195C>T" ], "proteinEffect": { "hgvs": "XP_016866080.1:p.Gln399Ter", "hgvsWellDefined": "XP_016866080.1:p.Gln399_Phe693delinsValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564618" }, { "coordinates": [ { "allele": "T", "end": 2123, "referenceAllele": "C", "start": 2122 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "XM_017010592.2:c.1195C>T" ], "proteinEffect": { "hgvs": "XP_016866081.1:p.Gln399Ter", "hgvsWellDefined": "XP_016866081.1:p.Gln399_Phe693delinsValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564619" }, { "@id": "http://reg.genome.network/allele/PA2826819933", "coordinates": [ { "allele": "T", "end": 1588, "referenceAllele": "C", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292034.3:c.1195C>T" ], "proteinEffect": { "hgvs": "NP_001278963.1:p.Gln399Ter", "hgvsWellDefined": "NP_001278963.1:p.Gln399_Phe693delinsValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664268", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637181.2:c.1195C>T" }, "RefSeq": { "hgvs": "NM_001292034.3:c.1195C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490618.1:p.Gln399Ter" }, "RefSeq": { "hgvs": "NP_001278963.1:p.Gln399Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826820118", "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001292035.3:c.1099C>T" ], "proteinEffect": { "hgvs": "NP_001278964.1:p.Gln367Ter", "hgvsWellDefined": "NP_001278964.1:p.Gln367_Phe661delinsValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682956" }, { "@id": "http://reg.genome.network/allele/PA2828334059", "coordinates": [ { "allele": "T", "end": 1737, "referenceAllele": "C", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_001369506.1:c.1195C>T" ], "proteinEffect": { "hgvs": "NP_001356435.1:p.Gln399Ter", "hgvsWellDefined": "NP_001356435.1:p.Gln399_Phe693delinsValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691726" }, { "@id": "http://reg.genome.network/allele/PA645429908", "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN017075", "geneNCBI_id": 23118, "geneSymbol": "TAB2", "hgvs": [ "NM_015093.6:c.1195C>T" ], "proteinEffect": { "hgvs": "NP_055908.1:p.Gln399Ter", "hgvsWellDefined": "NP_055908.1:p.Gln399_Phe693delinsValMetArgAsnGlnProThrLeuPheIleSerThrAsnSerGlyAlaSerAlaAlaSerArgAsnMetSerGlyGlnValSerMetGlyProAlaPheIleHisHisHisProProLysSerArgAlaIleGlyAsnAsnSerAlaThrSerProArgValValValThrGlnProAsnThrLysTyrThrPheLysIleThrValSerProAsnLysProProAlaValSerProGlyValValSerProThrPheGluLeuThrAsnLeuLeuAsnHisProAspHisTyrValGluThrGluAsnIleGlnHisLeuThrAspProThrLeuAlaHisValAspArgIleSerGluThrArgLysLeuSerMetGlySerAspAspAlaAlaTyrThrGlnAlaLeuLeuValHisGlnLysAlaArgMetGluArgLeuGlnArgGluLeuGluIleGlnLysLysLysLeuAspLysLeuLysSerGluValAsnGluMetGluAsnAsnLeuThrArgArgArgLeuLysArgSerAsnSerIleSerGlnIleProSerLeuGluGluMetGlnGlnLeuArgSerCysAsnArgGlnLeuGlnIleAspIleAspCysLeuThrLysGluIleAspLeuPheGlnAlaArgGlyProHisPheAsnProSerAlaIleHisAsnPheTyrAspAsnIleGlyPheValGlyProValProProLysProLysAspGlnArgSerIleIleLysThrProLysThrGlnAspThrGluAspAspGluGlyAlaGlnTrpAsnCysThrAlaCysThrPheLeuAsnHisProAlaLeuIleArgCysGluGlnCysGluMetProArgHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728032" } ], "type": "nucleotide" }