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"XP_011522918.1:p.Gln246_Leu523delinsGluSerSerProMetLysGlyProGlyGlyProPheGlnLeuLeuGlySerLeuGlyProSerProGlyProAlaArgGluGlyValGlyCysSerTrpGluSerGlyArgAlaGluAsnGlyValThrGlyAlaGlyLysArgArgTrpAsnPheGluGlnIleSerPheProAsnMetAlaSerAspSerArgHisThrLeuLeuArgAlaProAlaProGluLeuLeuProAlaAsnValAlaGlyArgGluThrAspAlaGluSerTrpCysGlnLysLeuAsnGlnArgLysGluLysLeuSerArgArgGluArgGluHisHisAlaGluAlaAlaGlnPheGlnGluAspValAsnAlaAspProGluValGlnArgCysSerSerTrpArgGluTyrLysGluLeuLeuGlnArgArgGlnValGlnArgSerGlnArgArgAlaProHisLeuTrpGlyGlnProValThrProLeuLeuSerProGlyGlnAlaSerSerProGlyThrProSerAlaCysHisIlePheGluGlyHisTrpGlnLeuArgAsnHisArgThrLeuGluArgAlaTrpMetAsnTrpAspGlyLeuArgLeuLysGluAspValGlyGlyGlySerGlyProThrSerThrValSerSerProAlaAlaAlaAlaGlyProValTrpGluGlyLeuGluMetProTrpSerPheSerIleSerLeuCysCysArgGlnHisThrPheLeuMetGluValProAspLeuMetSerLeuSerGlnThrSerAlaAlaSerSerGlyCysLeuThrArgValGlyMetSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091737" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "XM_011524617.1:c.736C>T" ], "proteinEffect": { "hgvs": "XP_011522919.1:p.Gln246Ter", "hgvsWellDefined": "XP_011522919.1:p.Gln246_Ser500delinsGluSerSerProMetLysGlyProGlyGlyProPheGlnLeuLeuGlySerLeuGlyProSerProGlyProAlaArgGluGlyValGlyCysSerTrpGluSerGlyArgAlaGluAsnGlyValThrGlyAlaGlyLysArgArgTrpAsnPheGluGlnIleSerPheProAsnMetAlaSerAspSerArgHisThrLeuLeuArgAlaProAlaProGluLeuLeuProAlaAsnValAlaGlyArgGluThrAspAlaGluSerTrpCysGlnLysLeuAsnGlnArgLysGluLysLeuSerArgArgGluArgGluHisHisAlaGluAlaAlaGlnPheGlnGluAspValAsnAlaAspProGluValGlnArgCysSerSerTrpArgGluTyrLysGluLeuLeuGlnArgArgGlnValGlnArgSerGlnArgArgAlaProHisLeuTrpGlyGlnProValThrProLeuLeuSerProGlyGlnAlaSerSerProGlyThrProSerAlaCysHisIlePheGluGlyHisTrpGlnLeuArgAsnHisArgThrLeuGluArgAlaTrpMetAsnTrpAspGlyLeuArgLeuLysGluAspValGlyGlyGlySerGlyProThrSerThrValSerSerProAlaAlaAlaAlaGlyProValTrpGluGlyLeuGluMetValSerGlnGluSerArgGlyProSerAlaTyrLeuCysAlaAlaAspAsnThrProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091738" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "XM_011524618.1:c.736C>T" ], "proteinEffect": { "hgvs": "XP_011522920.1:p.Gln246Ter", "hgvsWellDefined": "XP_011522920.1:p.Gln246_His487delinsGluSerSerProMetLysGlyProGlyGlyProPheGlnLeuLeuGlySerLeuGlyProSerProGlyProAlaArgGluGlyValGlyCysSerTrpGluSerGlyArgAlaGluAsnGlyValThrGlyAlaGlyLysArgArgTrpAsnPheGluGlnIleSerPheProAsnMetAlaSerAspSerArgHisThrLeuLeuArgAlaProAlaProGluLeuLeuProAlaAsnValAlaGlyArgGluThrAspAlaGluSerTrpCysGlnLysLeuAsnGlnArgLysGluLysLeuSerArgArgGluArgGluHisHisAlaGluAlaAlaGlnPheGlnGluAspValAsnAlaAspProGluValGlnArgCysSerSerTrpArgGluTyrLysGluLeuLeuGlnArgArgGlnValGlnArgSerGlnArgArgAlaProHisLeuTrpGlyGlnProValThrProLeuLeuSerProGlyGlnAlaSerSerProAlaValValLeuGlnHisIleSerValLeuGlnThrThrHisLeuProAspGlyGlyAlaArgPheAspGluProValProAspLeuCysSerLeuLysArgLeuSerTyrGlnSerGlyAspValProLeuIlePheAlaLeuValAspHisGlyAspIleSerPheTyrSerPheArgAspPheThrLeuProGlnAspValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091739" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "XR_243646.2:n.766C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116576" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "XM_005257229.4:c.736C>T" ], "proteinEffect": { "hgvs": "XP_005257286.1:p.Gln246Ter", "hgvsWellDefined": "XP_005257286.1:p.Gln246_Leu562delinsGluSerSerProMetLysGlyProGlyGlyProPheGlnLeuLeuGlySerLeuGlyProSerProGlyProAlaArgGluGlyValGlyCysSerTrpGluSerGlyArgAlaGluAsnGlyValThrGlyAlaGlyLysArgArgTrpAsnPheGluGlnIleSerPheProAsnMetAlaSerAspSerArgHisThrLeuLeuArgAlaProAlaProGluLeuLeuProAlaAsnValAlaGlyArgGluThrAspAlaGluSerTrpCysGlnLysLeuAsnGlnArgLysGluLysLeuSerArgArgGluArgGluHisHisAlaGluAlaAlaGlnPheGlnGluAspValAsnAlaAspProGluValGlnArgCysSerSerTrpArgGluTyrLysGluLeuLeuGlnArgArgGlnValGlnArgSerGlnArgArgAlaProHisLeuTrpGlyGlnProValThrProLeuLeuSerProGlyGlnAlaSerSerProGlyThrProSerAlaCysHisIlePheGluGlyHisTrpGlnLeuArgAsnHisArgThrLeuGluArgAlaTrpMetAsnTrpAspGlyLeuArgLeuLysGluAspValGlyGlyGlySerGlyProThrSerThrValSerSerProAlaAlaAlaAlaGlyProValTrpGluGlyLeuGluMetProTrpSerPheSerIleSerLeuCysCysArgGlnHisThrPheLeuMetGluValProGlyCysTrpArgSerLeuGlyAlaTrpLysSerSerLeuMetPheThrArgProThrLeuTrpProHisSerGluArgIleThrLeuAlaAsnProMetProGlyCysAlaLeuValAspLeuMetSerLeuSerGlnThrSerAlaAlaSerSerGlyCysLeuThrArgValGlyMetSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534626" }, { "coordinates": [ { "allele": "T", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "XR_243646.4:n.772C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606021" }, { "@id": "http://reg.genome.network/allele/PA339945", "coordinates": [ { "allele": "T", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "NM_207346.3:c.736C>T" ], "proteinEffect": { "hgvs": "NP_997229.2:p.Gln246Ter", "hgvsWellDefined": "NP_997229.2:p.Gln246_His526delinsGluSerSerProMetLysGlyProGlyGlyProPheGlnLeuLeuGlySerLeuGlyProSerProGlyProAlaArgGluGlyValGlyCysSerTrpGluSerGlyArgAlaGluAsnGlyValThrGlyAlaGlyLysArgArgTrpAsnPheGluGlnIleSerPheProAsnMetAlaSerAspSerArgHisThrLeuLeuArgAlaProAlaProGluLeuLeuProAlaAsnValAlaGlyArgGluThrAspAlaGluSerTrpCysGlnLysLeuAsnGlnArgLysGluLysLeuSerArgArgGluArgGluHisHisAlaGluAlaAlaGlnPheGlnGluAspValAsnAlaAspProGluValGlnArgCysSerSerTrpArgGluTyrLysGluLeuLeuGlnArgArgGlnValGlnArgSerGlnArgArgAlaProHisLeuTrpGlyGlnProValThrProLeuLeuSerProGlyGlnAlaSerSerProAlaValValLeuGlnHisIleSerValLeuGlnThrThrHisLeuProAspGlyGlyAlaArgLeuLeuGluLysSerGlyGlyLeuGluIleIlePheAspValTyrGlnAlaAspAlaValAlaThrPheArgLysAsnAsnProGlyLysProTyrAlaArgMetCysIleSerGlyPheAspGluProValProAspLeuCysSerLeuLysArgLeuSerTyrGlnSerGlyAspValProLeuIlePheAlaLeuValAspHisGlyAspIleSerPheTyrSerPheArgAspPheThrLeuProGlnAspValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673297", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000333213.11:c.736C>T" }, "RefSeq": { "hgvs": "NM_207346.3:c.736C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327487.6:p.Gln246Ter" }, "RefSeq": { "hgvs": "NP_997229.2:p.Gln246Ter" } } } } ], "type": "nucleotide" }