{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA294824", "communityStandardTitle": [ "NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168141[alleleid]", "alleleId": 168141, "preferredName": "NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159286", "RCV": [ "RCV003231189" ], "variationId": 159286 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176637739C>A?assembly=hg19", "id": "chr5:g.176637739C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177210738C>A?assembly=hg38", "id": "chr5:g.177210738C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201327209", "rs": 201327209 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 177210738, "referenceAllele": "C", "start": 177210737 } ], "hgvs": [ "NC_000005.10:g.177210738C>A", "CM000667.2:g.177210738C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 176637739, "referenceAllele": "C", "start": 176637738 } ], "hgvs": [ "NC_000005.9:g.176637739C>A", "CM000667.1:g.176637739C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 176570345, "referenceAllele": "C", "start": 176570344 } ], "hgvs": [ "NC_000005.8:g.176570345C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 82660, "referenceAllele": "C", "start": 82659 } ], "hgvs": [ "NG_009821.1:g.82660C>A", "LRG_512:g.82660C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1721, "referenceAllele": "C", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.1466C>A" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Ser489Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "C", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.1466C>A" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Ser489Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "C", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.1466C>A" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Ser489Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "A", "end": 612, "endIntronDirection": "+", "endIntronOffset": 6446, "referenceAllele": "C", "start": 612, "startIntronDirection": "+", "startIntronOffset": 6445 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000510954.6:n.612+6446C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825574" }, { "coordinates": [ { "allele": "A", "end": 1922, "referenceAllele": "C", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.1922C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "A", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.1466C>A" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Ser489Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "A", "end": 2048, "referenceAllele": "C", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.2030C>A" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Ser677Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "A", "end": 1736, "referenceAllele": "C", "start": 1735 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.1736C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "A", "end": 2541, "referenceAllele": "C", "start": 2540 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689326.1:c.2339C>A" ], "proteinEffect": { "hgvs": "ENSP00000509594.1:p.Ser780Ter", "hgvsWellDefined": "ENSP00000509594.1:p.Ser780_Ile1327delinsLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysGluIleMetLysValAsnValLysGluAsnGlnLeuArgAsnPheLeuAsnProMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832114" }, { "coordinates": [ { "allele": "A", "end": 1669, "referenceAllele": "C", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.1466C>A" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Ser489Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "A", "end": 2486, "referenceAllele": "C", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.2486C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "A", "end": 2536, "referenceAllele": "C", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.2339C>A" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.2339C>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.2339C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Ser780Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Ser780Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "C", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.1532C>A" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "C", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.1532C>A" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "A", "end": 2384, "referenceAllele": "C", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.2339C>A" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "coordinates": [ { "allele": "A", "end": 2477, "referenceAllele": "C", "start": 2476 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.2339C>A", "LRG_512t1:c.2339C>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "A", "end": 1692, "referenceAllele": "C", "start": 1691 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.1532C>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "A", "end": 2486, "referenceAllele": "C", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "C", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.1532C>A" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "A", "end": 1651, "referenceAllele": "C", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.1532C>A" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "A", "end": 2408, "referenceAllele": "C", "start": 2407 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "A", "end": 2379, "referenceAllele": "C", "start": 2378 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "A", "end": 2122, "referenceAllele": "C", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.1919C>A" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Ser640Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "A", "end": 1474, "referenceAllele": "C", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.1283C>A" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Ser428Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "A", "end": 2545, "referenceAllele": "C", "start": 2544 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534614.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_011532916.1:p.Ser780Ter", "hgvsWellDefined": "XP_011532916.1:p.Ser780_Leu1728delinsLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluGlyGluLeuMetProHisArgThrAlaThrSerProLysGluThrValGluGluGlyValGluHisAspProGlyMetProAlaSerLysLysMetGlnGlyGluArgGlyGlyGlyAlaAlaLeuLysGluAsnValCysGlnAsnCysGluLysLeuGlyGluLeuLeuLeuCysGluAlaGlnCysCysGlyAlaPheHisLeuGluCysLeuGlyLeuThrGluMetProArgGlyLysPheIleCysAsnGluCysArgThrGlyIleHisThrCysPheValCysLysGlnSerGlyGluAspValLysArgCysLeuLeuProLeuCysGlyLysPheTyrHisGluGluCysValGlnLysTyrProProThrValMetGlnAsnLysGlyPheArgCysSerLeuHisIleCysIleThrCysHisAlaAlaAsnProAlaAsnValSerAlaSerLysGlyArgLeuMetArgCysValArgCysProValAlaTyrHisAlaAsnAspPheCysLeuAlaAlaGlySerLysIleLeuAlaSerAsnSerIleIleCysProAsnHisPheThrProArgArgGlyCysArgAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101626" }, { "coordinates": [ { "allele": "A", "end": 2545, "referenceAllele": "C", "start": 2544 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534615.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_011532917.1:p.Ser780Ter", "hgvsWellDefined": "XP_011532917.1:p.Ser780_Glu1499delinsLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101627" }, { "coordinates": [ { "allele": "A", "end": 2546, "referenceAllele": "C", "start": 2545 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534616.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_011532918.1:p.Ser780Ter", "hgvsWellDefined": "XP_011532918.1:p.Ser780_Ile1327delinsLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysGluIleMetLysValAsnValLysGluAsnGlnLeuArgAsnPheLeuAsnProMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101628" }, { "coordinates": [ { "allele": "A", "end": 1633, "referenceAllele": "C", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.1532C>A" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "A", "end": 2486, "referenceAllele": "C", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "A", "end": 2461, "referenceAllele": "C", "start": 2460 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "A", "end": 2415, "referenceAllele": "C", "start": 2414 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "A", "end": 3110, "referenceAllele": "C", "start": 3109 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "A", "end": 2127, "referenceAllele": "C", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.1919C>A" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Ser640Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "A", "end": 1825, "referenceAllele": "C", "start": 1824 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.1532C>A" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "C", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.1532C>A" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "A", "end": 1716, "referenceAllele": "C", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.1532C>A" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "A", "end": 1510, "referenceAllele": "C", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.1283C>A" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Ser428Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "A", "end": 2565, "referenceAllele": "C", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Ser780Ter", "hgvsWellDefined": "XP_024301928.1:p.Ser780_Leu1728delinsLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluGlyGluLeuMetProHisArgThrAlaThrSerProLysGluThrValGluGluGlyValGluHisAspProGlyMetProAlaSerLysLysMetGlnGlyGluArgGlyGlyGlyAlaAlaLeuLysGluAsnValCysGlnAsnCysGluLysLeuGlyGluLeuLeuLeuCysGluAlaGlnCysCysGlyAlaPheHisLeuGluCysLeuGlyLeuThrGluMetProArgGlyLysPheIleCysAsnGluCysArgThrGlyIleHisThrCysPheValCysLysGlnSerGlyGluAspValLysArgCysLeuLeuProLeuCysGlyLysPheTyrHisGluGluCysValGlnLysTyrProProThrValMetGlnAsnLysGlyPheArgCysSerLeuHisIleCysIleThrCysHisAlaAlaAsnProAlaAsnValSerAlaSerLysGlyArgLeuMetArgCysValArgCysProValAlaTyrHisAlaAsnAspPheCysLeuAlaAlaGlySerLysIleLeuAlaSerAsnSerIleIleCysProAsnHisPheThrProArgArgGlyCysArgAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "A", "end": 2565, "referenceAllele": "C", "start": 2564 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446161.1:c.2339C>A" ], "proteinEffect": { "hgvs": "XP_024301929.1:p.Ser780Ter", "hgvsWellDefined": "XP_024301929.1:p.Ser780_Glu1499delinsLysSerLysGlnProLysPheArgSerIleLysCysLysHisLysGluAsnProValMetAlaGluProProValIleAsnGluGluCysSerLeuLysCysCysSerSerAspThrLysGlySerProLeuAlaSerIleSerLysSerGlyLysValAspGlyLeuLysLeuLeuAsnAsnMetHisGluLysThrArgAspSerSerAspIleGluThrAlaValValLysHisValLeuSerGluLeuLysGluLeuSerTyrArgSerLeuGlyGluAspValSerAspSerGlyThrSerLysProSerLysProLeuLeuPheSerSerAlaSerSerGlnAsnHisIleProIleGluProAspTyrLysPheSerThrLeuLeuMetMetLeuLysAspMetHisAspSerLysThrLysGluGlnArgLeuMetThrAlaGlnAsnLeuValSerTyrArgSerProGlyArgGlyAspCysSerThrAsnSerProValGlyValSerLysValLeuValSerGlyGlySerThrHisAsnSerGluLysLysGlyAspGlyThrGlnAsnSerAlaAsnProSerProSerGlyGlyAspSerAlaLeuSerGlyGluLeuSerAlaSerLeuProGlyLeuLeuSerAspLysArgAspLeuProAlaSerGlyLysSerArgSerAspCysValThrArgArgAsnCysGlyArgSerLysProSerSerLysLeuArgAspAlaPheSerAlaGlnMetValLysAsnThrValAsnArgLysAlaLeuLysThrGluArgLysArgLysLeuAsnGlnLeuProSerValThrLeuAspAlaValLeuGlnGlyAspArgGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579835" }, { "coordinates": [ { "allele": "A", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.-1657C>A" ], "proteinEffect": { "hgvs": "XP_024301930.1:n.-1657C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "A", "end": 2536, "referenceAllele": "C", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.2339C>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Ser780Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.2339C>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.2339C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Ser780Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Ser780Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.1532C>A" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Ser511Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }