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"XP_011532918.1:p.Ser760_Ile1327delinsIleSerSerGluAsnSerLeuIleLysGlyGlyAlaAlaAsnGlnAlaLeuLeuHisSerLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysGluIleMetLysValAsnValLysGluAsnGlnLeuArgAsnPheLeuAsnProMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101628" }, { "coordinates": [ { "allele": "G", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.1469C>G" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Ser490Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "G", "end": 2423, "referenceAllele": "C", "start": 2422 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.2276C>G" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Ser759Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "G", "end": 2398, "referenceAllele": "C", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.2276C>G" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Ser759Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "G", "end": 2352, "referenceAllele": "C", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.2276C>G" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Ser759Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "G", "end": 3047, "referenceAllele": "C", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.2276C>G" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Ser759Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "G", "end": 2064, "referenceAllele": "C", "start": 2063 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.1856C>G" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Ser619Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "G", "end": 1762, "referenceAllele": "C", "start": 1761 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.1469C>G" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Ser490Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "G", "end": 1609, "referenceAllele": "C", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.1469C>G" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Ser490Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "G", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.1469C>G" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Ser490Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "G", "end": 1447, "referenceAllele": "C", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.1220C>G" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Ser407Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "G", "end": 2502, "referenceAllele": "C", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.2276C>G" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Ser759Ter", "hgvsWellDefined": "XP_024301928.1:p.Ser760_Leu1728delinsIleSerSerGluAsnSerLeuIleLysGlyGlyAlaAlaAsnGlnAlaLeuLeuHisSerLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluGlyGluLeuMetProHisArgThrAlaThrSerProLysGluThrValGluGluGlyValGluHisAspProGlyMetProAlaSerLysLysMetGlnGlyGluArgGlyGlyGlyAlaAlaLeuLysGluAsnValCysGlnAsnCysGluLysLeuGlyGluLeuLeuLeuCysGluAlaGlnCysCysGlyAlaPheHisLeuGluCysLeuGlyLeuThrGluMetProArgGlyLysPheIleCysAsnGluCysArgThrGlyIleHisThrCysPheValCysLysGlnSerGlyGluAspValLysArgCysLeuLeuProLeuCysGlyLysPheTyrHisGluGluCysValGlnLysTyrProProThrValMetGlnAsnLysGlyPheArgCysSerLeuHisIleCysIleThrCysHisAlaAlaAsnProAlaAsnValSerAlaSerLysGlyArgLeuMetArgCysValArgCysProValAlaTyrHisAlaAsnAspPheCysLeuAlaAlaGlySerLysIleLeuAlaSerAsnSerIleIleCysProAsnHisPheThrProArgArgGlyCysArgAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "G", "end": 2502, "referenceAllele": "C", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446161.1:c.2276C>G" ], "proteinEffect": { "hgvs": "XP_024301929.1:p.Ser759Ter", "hgvsWellDefined": "XP_024301929.1:p.Ser760_Glu1499delinsIleSerSerGluAsnSerLeuIleLysGlyGlyAlaAlaAsnGlnAlaLeuLeuHisSerLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579835" }, { "coordinates": [ { "allele": "G", "end": 1395, "referenceAllele": "C", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.-1720C>G" ], "proteinEffect": { "hgvs": "XP_024301930.1:n.-1720C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "G", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.2276C>G" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Ser759Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.2276C>G" }, "RefSeq": { "hgvs": "NM_022455.5:c.2276C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Ser759Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Ser759Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1693, "referenceAllele": "C", "start": 1692 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.1469C>G" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Ser490Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }