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"http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.1474C>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Arg492Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 1380, "referenceAllele": "C", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.1087C>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Arg363Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.1087C>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Arg363Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.1087C>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Arg363Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.838C>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Arg280Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 2120, "referenceAllele": "C", "start": 2119 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.1894C>T" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Arg632Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "T", "end": 2120, "referenceAllele": "C", "start": 2119 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446161.1:c.1894C>T" ], "proteinEffect": { "hgvs": "XP_024301929.1:p.Arg632Ter", "hgvsWellDefined": "XP_024301929.1:p.Arg632_Glu1499delinsSerAspSerIleSerIleCysThrThrSerAspAspGlySerSerAspLeuAspProIleGluHisSerSerGluSerAspAsnSerValLeuGluIleProAspAlaPheAspArgThrGluAsnMetLeuSerMetGlnLysAsnGluLysIleLysTyrSerArgPheAlaAlaThrAsnThrArgValLysAlaLysGlnLysProLeuIleSerAsnSerHisThrAspHisLeuMetGlyCysThrLysSerAlaGluProGlyThrGluThrSerGlnValAsnLeuSerAspLeuLysAlaSerThrLeuValHisLysProGlnSerAspPheThrAsnAspAlaLeuSerProLysPheAsnLeuSerSerSerIleSerSerGluAsnSerLeuIleLysGlyGlyAlaAlaAsnGlnAlaLeuLeuHisSerLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579835" }, { "coordinates": [ { "allele": "T", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.-2102C>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:n.-2102C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 2091, "referenceAllele": "C", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.1894C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg632Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.1894C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.1894C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg632Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg632Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1311, "referenceAllele": "C", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.1087C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg363Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }