{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA362318494", "communityStandardTitle": [ "NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=653869[alleleid]", "alleleId": 653869, "preferredName": "NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/666325", "RCV": [ "RCV003232133" ], "variationId": 666325 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176715924A>T?assembly=hg19", "id": "chr5:g.176715924A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177288923A>T?assembly=hg38", "id": "chr5:g.177288923A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1581548112", "rs": 1581548112 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 177288923, "referenceAllele": "A", "start": 177288922 } ], "hgvs": [ "NC_000005.10:g.177288923A>T", "CM000667.2:g.177288923A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176715924, "referenceAllele": "A", "start": 176715923 } ], "hgvs": [ "NC_000005.9:g.176715924A>T", "CM000667.1:g.176715924A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176648530, "referenceAllele": "A", "start": 176648529 } ], "hgvs": [ "NC_000005.8:g.176648530A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 160845, "referenceAllele": "A", "start": 160844 } ], "hgvs": [ "NG_009821.1:g.160845A>T", "LRG_512:g.160845A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5638, "referenceAllele": "A", "start": 5637 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.5383A>T" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Lys1795Ter", "hgvsWellDefined": "ENSP00000423372.3:p.Lys1795_Lys2405delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "T", "end": 5550, "referenceAllele": "A", "start": 5549 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.5383A>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Lys1795Ter", "hgvsWellDefined": "ENSP00000343209.5:p.Lys1795_Lys2405delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "T", "end": 5609, "referenceAllele": "A", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.5383A>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Lys1795Ter", "hgvsWellDefined": "ENSP00000346111.5:p.Lys1795_Lys2405delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "A", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000503056.6:c.898A>T" ], "proteinEffect": { "hgvs": "ENSP00000424024.2:p.Lys300Ter", "hgvsWellDefined": "ENSP00000424024.2:p.Lys300_Lys910delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825500" }, { "coordinates": [ { "allele": "T", "end": 1357, "referenceAllele": "A", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508029.6:c.898A>T" ], "proteinEffect": { "hgvs": "ENSP00000425120.2:p.Lys300Ter", "hgvsWellDefined": "ENSP00000425120.2:p.Lys300_Lys910delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825535" }, { "coordinates": [ { "allele": "T", "end": 5839, "referenceAllele": "A", "start": 5838 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.5839A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "T", "end": 5568, "referenceAllele": "A", "start": 5567 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.5383A>T" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Lys1795Ter", "hgvsWellDefined": "ENSP00000510020.1:p.Lys1795_Lys2405delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "T", "end": 5965, "referenceAllele": "A", "start": 5964 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.5947A>T" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Lys1983Ter", "hgvsWellDefined": "ENSP00000508426.1:p.Lys1983_Lys2593delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "T", "end": 5653, "referenceAllele": "A", "start": 5652 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.5653A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "T", "end": 5586, "referenceAllele": "A", "start": 5585 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.5383A>T" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Lys1795Ter", "hgvsWellDefined": "ENSP00000509711.1:p.Lys1795_Lys2405delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "T", "end": 6453, "referenceAllele": "A", "start": 6452 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.6256A>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Lys2086Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.6256A>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.6256A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Lys2086Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Lys2086Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5550, "referenceAllele": "A", "start": 5549 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.5449A>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Lys1817Ter", "hgvsWellDefined": "ENSP00000343209.4:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "T", "end": 5609, "referenceAllele": "A", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.5449A>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Lys1817Ter", "hgvsWellDefined": "ENSP00000346111.4:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "T", "end": 6301, "referenceAllele": "A", "start": 6300 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.6256A>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Lys2086Ter", "hgvsWellDefined": "ENSP00000395929.2:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "coordinates": [ { "allele": "T", "end": 398, "referenceAllele": "A", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000513736.1:n.398A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343405" }, { "@id": "http://reg.genome.network/allele/PA916067239", "coordinates": [ { "allele": "T", "end": 6394, "referenceAllele": "A", "start": 6393 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.6256A>T", "LRG_512t1:c.6256A>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Lys2086Ter", "hgvsWellDefined": "NP_071900.2:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "T", "end": 5609, "referenceAllele": "A", "start": 5608 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.5449A>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Lys1817Ter", "hgvsWellDefined": "NP_758859.1:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "T", "end": 6403, "referenceAllele": "A", "start": 6402 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.6256A>T" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Lys2086Ter", "hgvsWellDefined": "XP_005266016.1:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "T", "end": 5550, "referenceAllele": "A", "start": 5549 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.5449A>T" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Lys1817Ter", "hgvsWellDefined": "XP_005266017.1:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "T", "end": 5568, "referenceAllele": "A", "start": 5567 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.5449A>T" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Lys1817Ter", "hgvsWellDefined": "XP_005266018.1:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "T", "end": 1910, "referenceAllele": "A", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265962.3:c.1750A>T" ], "proteinEffect": { "hgvs": "XP_005266019.1:p.Lys584Ter", "hgvsWellDefined": "XP_005266019.1:p.Lys584_Lys1194delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064876" }, { "coordinates": [ { "allele": "T", "end": 6325, "referenceAllele": "A", "start": 6324 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.6256A>T" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Lys2086Ter", "hgvsWellDefined": "XP_011532912.1:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "T", "end": 6296, "referenceAllele": "A", "start": 6295 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.6256A>T" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Lys2086Ter", "hgvsWellDefined": "XP_011532913.1:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "T", "end": 6039, "referenceAllele": "A", "start": 6038 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.5836A>T" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Lys1946Ter", "hgvsWellDefined": "XP_011532914.1:p.Lys1946_Lys2556delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "T", "end": 5391, "referenceAllele": "A", "start": 5390 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.5200A>T" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Lys1734Ter", "hgvsWellDefined": "XP_011532915.1:p.Lys1734_Lys2344delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "T", "end": 2153, "referenceAllele": "A", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534617.1:c.1990A>T" ], "proteinEffect": { "hgvs": "XP_011532919.1:p.Lys664Ter", "hgvsWellDefined": "XP_011532919.1:p.Lys664_Lys1274delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101629" }, { "coordinates": [ { "allele": "T", "end": 5550, "referenceAllele": "A", "start": 5549 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.5449A>T" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Lys1817Ter", "hgvsWellDefined": "NP_001352613.1:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "T", "end": 6403, "referenceAllele": "A", "start": 6402 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.6256A>T" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Lys2086Ter", "hgvsWellDefined": "XP_024301918.1:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "T", "end": 6378, "referenceAllele": "A", "start": 6377 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.6256A>T" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Lys2086Ter", "hgvsWellDefined": "XP_024301919.1:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "T", "end": 6332, "referenceAllele": "A", "start": 6331 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.6256A>T" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Lys2086Ter", "hgvsWellDefined": "XP_024301920.1:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "T", "end": 7027, "referenceAllele": "A", "start": 7026 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.6256A>T" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Lys2086Ter", "hgvsWellDefined": "XP_024301921.1:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "T", "end": 6044, "referenceAllele": "A", "start": 6043 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.5836A>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Lys1946Ter", "hgvsWellDefined": "XP_024301922.1:p.Lys1946_Lys2556delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 5742, "referenceAllele": "A", "start": 5741 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.5449A>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Lys1817Ter", "hgvsWellDefined": "XP_024301923.1:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 5589, "referenceAllele": "A", "start": 5588 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.5449A>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Lys1817Ter", "hgvsWellDefined": "XP_024301924.1:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 5633, "referenceAllele": "A", "start": 5632 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.5449A>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Lys1817Ter", "hgvsWellDefined": "XP_024301926.1:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 5427, "referenceAllele": "A", "start": 5426 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.5200A>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Lys1734Ter", "hgvsWellDefined": "XP_024301927.1:p.Lys1734_Lys2344delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 5104, "referenceAllele": "A", "start": 5103 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.1990A>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:p.Lys664Ter", "hgvsWellDefined": "XP_024301930.1:p.Lys664_Lys1274delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 1914, "referenceAllele": "A", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446163.1:c.1750A>T" ], "proteinEffect": { "hgvs": "XP_024301931.1:p.Lys584Ter", "hgvsWellDefined": "XP_024301931.1:p.Lys584_Lys1194delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579837" }, { "@id": "http://reg.genome.network/allele/PA916067239", "coordinates": [ { "allele": "T", "end": 6453, "referenceAllele": "A", "start": 6452 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.6256A>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Lys2086Ter", "hgvsWellDefined": "NP_071900.2:p.Lys2086_Lys2696delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.6256A>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.6256A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Lys2086Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Lys2086Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5673, "referenceAllele": "A", "start": 5672 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.5449A>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Lys1817Ter", "hgvsWellDefined": "NP_758859.1:p.Lys1817_Lys2427delinsAsnGlnProIleAlaThrGluGluLysSerLysLysPheLysLysLysGlnGlnGlyLysArgArgThrGlnGlyGluIleThrLysGluArgGluAspGluCysPheSerCysGlyAspAlaGlyGlnLeuValSerCysLysLysProGlyCysProLysValTyrHisAlaAspCysLeuAsnLeuThrLysArgProAlaGlyLysTrpGluCysProTrpHisGlnCysAspIleCysGlyLysGluAlaAlaSerPheCysGluMetCysProSerSerPheCysLysGlnHisArgGluGlyMetLeuPheIleSerLysLeuAspGlyArgLeuSerCysThrGluHisAspProCysGlyProAsnProLeuGluProGlyGluIleArgGluTyrValProProProValProLeuProProGlyProSerThrHisLeuAlaGluGlnSerThrGlyMetAlaAlaGlnAlaProLysMetSerAspLysProProAlaAspThrAsnGlnMetLeuSerLeuSerLysLysAlaLeuAlaGlyThrCysGlnArgProLeuLeuProGluArgProLeuGluArgThrAspSerArgProGlnProLeuAspLysValArgAspLeuAlaGlySerGlyThrLysSerGlnSerLeuValSerSerGlnArgProLeuAspArgProProAlaValAlaGlyProArgProGlnLeuSerAspLysProSerProValThrSerProSerSerSerProSerValArgSerGlnProLeuGluArgProLeuGlyThrAlaAspProArgLeuAspLysSerIleGlyAlaAlaSerProArgProGlnSerLeuGluLysThrSerValProThrGlyLeuArgLeuProProProAspArgLeuLeuIleThrSerSerProLysProGlnThrSerAspArgProThrAspLysProHisAlaSerLeuSerGlnArgLeuProProProGluLysValLeuSerAlaValValGlnThrLeuValAlaLysGluLysAlaLeuArgProValAspGlnAsnThrGlnSerLysAsnArgAlaAlaLeuValMetAspLeuIleAspLeuThrProArgGlnLysGluArgAlaAlaSerProHisGlnValThrProGlnAlaAspGluLysMetProValLeuGluSerSerSerTrpProAlaSerLysGlyLeuGlyHisMetProArgAlaValGluLysGlyCysValSerAspProLeuGlnThrSerGlyLysAlaAlaAlaProSerGluAspProTrpGlnAlaValLysSerLeuThrGlnAlaArgLeuLeuSerGlnProProAlaLysAlaPheLeuTyrGluProThrThrGlnAlaSerGlyArgAlaSerAlaGlyAlaGluGlnThrProGlyProLeuSerGlnSerProGlyLeuValLysGlnAlaLysGlnMetValGlyGlyGlnGlnLeuProAlaLeuAlaAlaLysSerGlyGlnSerPheArgSerLeuGlyLysAlaProAlaSerLeuProThrGluGluLysLysLeuValThrThrGluGlnSerProTrpAlaLeuGlyLysAlaSerSerArgAlaGlyLeuTrpProIleValAlaGlyGlnThrLeuAlaGlnSerCysTrpSerAlaGlySerThrGlnThrLeuAlaGlnThrCysTrpSerLeuGlyArgGlyGlnAspProLysProGluGlnAsnThrLeuProAlaLeuAsnGlnAlaProSerSerHisLysCysAlaGluSerGluGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }