{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA294846", "communityStandardTitle": [ "NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168158[alleleid]", "alleleId": 168158, "preferredName": "NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159303", "RCV": [ "RCV000733891", "RCV003231205" ], "variationId": 159303 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.176638614C>T?assembly=hg19", "id": "chr5:g.176638614C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.177211613C>T?assembly=hg38", "id": "chr5:g.177211613C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587784098", "rs": 587784098 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 177211613, "referenceAllele": "C", "start": 177211612 } ], "hgvs": [ "NC_000005.10:g.177211613C>T", "CM000667.2:g.177211613C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176638614, "referenceAllele": "C", "start": 176638613 } ], "hgvs": [ "NC_000005.9:g.176638614C>T", "CM000667.1:g.176638614C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 176571220, "referenceAllele": "C", "start": 176571219 } ], "hgvs": [ "NC_000005.8:g.176571220C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 83535, "referenceAllele": "C", "start": 83534 } ], "hgvs": [ "NG_009821.1:g.83535C>T", "LRG_512:g.83535C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2596, "referenceAllele": "C", "start": 2595 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000508896.7:c.2341C>T" ], "proteinEffect": { "hgvs": "ENSP00000423372.3:p.Arg781Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914192" }, { "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.9:c.2341C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.5:p.Arg781Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS824051" }, { "coordinates": [ { "allele": "T", "end": 2567, "referenceAllele": "C", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.9:c.2341C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.5:p.Arg781Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS824070" }, { "coordinates": [ { "allele": "T", "end": 612, "endIntronDirection": "+", "endIntronOffset": 7321, "referenceAllele": "C", "start": 612, "startIntronDirection": "+", "startIntronOffset": 7320 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000510954.6:n.612+7321C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825574" }, { "coordinates": [ { "allele": "T", "end": 2797, "referenceAllele": "C", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000685206.1:n.2797C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829942" }, { "coordinates": [ { "allele": "T", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000686993.1:c.2341C>T" ], "proteinEffect": { "hgvs": "ENSP00000510020.1:p.Arg781Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS830852" }, { "coordinates": [ { "allele": "T", "end": 2923, "referenceAllele": "C", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000687453.1:c.2905C>T" ], "proteinEffect": { "hgvs": "ENSP00000508426.1:p.Arg969Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS831094" }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000688613.1:n.2611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831725" }, { "coordinates": [ { "allele": "T", "end": 3416, "referenceAllele": "C", "start": 3415 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689326.1:c.3214C>T" ], "proteinEffect": { "hgvs": "ENSP00000509594.1:p.Arg1072Ter", "hgvsWellDefined": "ENSP00000509594.1:p.Arg1072_Ile1327delinsGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysGluIleMetLysValAsnValLysGluAsnGlnLeuArgAsnPheLeuAsnProMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832114" }, { "coordinates": [ { "allele": "T", "end": 2544, "referenceAllele": "C", "start": 2543 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689345.1:c.2341C>T" ], "proteinEffect": { "hgvs": "ENSP00000509711.1:p.Arg781Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS832121" }, { "coordinates": [ { "allele": "T", "end": 3361, "referenceAllele": "C", "start": 3360 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000689549.1:n.3361C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832234" }, { "coordinates": [ { "allele": "T", "end": 3411, "referenceAllele": "C", "start": 3410 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.7:c.3214C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS755732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.3214C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.3214C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg1072Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg1072Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000347982.8:c.2407C>T" ], "proteinEffect": { "hgvs": "ENSP00000343209.4:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS262425" }, { "coordinates": [ { "allele": "T", "end": 2567, "referenceAllele": "C", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000354179.8:c.2407C>T" ], "proteinEffect": { "hgvs": "ENSP00000346111.4:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS263032" }, { "coordinates": [ { "allele": "T", "end": 3259, "referenceAllele": "C", "start": 3258 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "ENST00000439151.6:c.3214C>T" ], "proteinEffect": { "hgvs": "ENSP00000395929.2:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS295287" }, { "coordinates": [ { "allele": "T", "end": 3352, "referenceAllele": "C", "start": 3351 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.4:c.3214C>T", "LRG_512t1:c.3214C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS037320" }, { "coordinates": [ { "allele": "T", "end": 2567, "referenceAllele": "C", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.2:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS042727" }, { "coordinates": [ { "allele": "T", "end": 3361, "referenceAllele": "C", "start": 3360 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265959.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_005266016.1:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064873" }, { "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265960.1:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_005266017.1:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064874" }, { "coordinates": [ { "allele": "T", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_005265961.1:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_005266018.1:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064875" }, { "coordinates": [ { "allele": "T", "end": 3283, "referenceAllele": "C", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534610.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_011532912.1:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS101622" }, { "coordinates": [ { "allele": "T", "end": 3254, "referenceAllele": "C", "start": 3253 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534611.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_011532913.1:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS101623" }, { "coordinates": [ { "allele": "T", "end": 2997, "referenceAllele": "C", "start": 2996 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534612.1:c.2794C>T" ], "proteinEffect": { "hgvs": "XP_011532914.1:p.Arg932Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS101624" }, { "coordinates": [ { "allele": "T", "end": 2349, "referenceAllele": "C", "start": 2348 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534613.1:c.2158C>T" ], "proteinEffect": { "hgvs": "XP_011532915.1:p.Arg720Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS101625" }, { "coordinates": [ { "allele": "T", "end": 3420, "referenceAllele": "C", "start": 3419 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534614.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_011532916.1:p.Arg1072Ter", "hgvsWellDefined": "XP_011532916.1:p.Arg1072_Leu1728delinsGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluGlyGluLeuMetProHisArgThrAlaThrSerProLysGluThrValGluGluGlyValGluHisAspProGlyMetProAlaSerLysLysMetGlnGlyGluArgGlyGlyGlyAlaAlaLeuLysGluAsnValCysGlnAsnCysGluLysLeuGlyGluLeuLeuLeuCysGluAlaGlnCysCysGlyAlaPheHisLeuGluCysLeuGlyLeuThrGluMetProArgGlyLysPheIleCysAsnGluCysArgThrGlyIleHisThrCysPheValCysLysGlnSerGlyGluAspValLysArgCysLeuLeuProLeuCysGlyLysPheTyrHisGluGluCysValGlnLysTyrProProThrValMetGlnAsnLysGlyPheArgCysSerLeuHisIleCysIleThrCysHisAlaAlaAsnProAlaAsnValSerAlaSerLysGlyArgLeuMetArgCysValArgCysProValAlaTyrHisAlaAsnAspPheCysLeuAlaAlaGlySerLysIleLeuAlaSerAsnSerIleIleCysProAsnHisPheThrProArgArgGlyCysArgAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101626" }, { "coordinates": [ { "allele": "T", "end": 3420, "referenceAllele": "C", "start": 3419 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534615.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_011532917.1:p.Arg1072Ter", "hgvsWellDefined": "XP_011532917.1:p.Arg1072_Glu1499delinsGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101627" }, { "coordinates": [ { "allele": "T", "end": 3421, "referenceAllele": "C", "start": 3420 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_011534616.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_011532918.1:p.Arg1072Ter", "hgvsWellDefined": "XP_011532918.1:p.Arg1072_Ile1327delinsGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysGluIleMetLysValAsnValLysGluAsnGlnLeuArgAsnPheLeuAsnProMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101628" }, { "coordinates": [ { "allele": "T", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_001365684.1:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_001352613.1:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS524206" }, { "coordinates": [ { "allele": "T", "end": 3361, "referenceAllele": "C", "start": 3360 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446150.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_024301918.1:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579825" }, { "coordinates": [ { "allele": "T", "end": 3336, "referenceAllele": "C", "start": 3335 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446151.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_024301919.1:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579826" }, { "coordinates": [ { "allele": "T", "end": 3290, "referenceAllele": "C", "start": 3289 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446152.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_024301920.1:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579827" }, { "coordinates": [ { "allele": "T", "end": 3985, "referenceAllele": "C", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446153.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_024301921.1:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579828" }, { "coordinates": [ { "allele": "T", "end": 3002, "referenceAllele": "C", "start": 3001 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446154.1:c.2794C>T" ], "proteinEffect": { "hgvs": "XP_024301922.1:p.Arg932Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579829" }, { "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446155.1:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_024301923.1:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579830" }, { "coordinates": [ { "allele": "T", "end": 2547, "referenceAllele": "C", "start": 2546 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446156.1:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_024301924.1:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579831" }, { "coordinates": [ { "allele": "T", "end": 2591, "referenceAllele": "C", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446158.1:c.2407C>T" ], "proteinEffect": { "hgvs": "XP_024301926.1:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579832" }, { "coordinates": [ { "allele": "T", "end": 2385, "referenceAllele": "C", "start": 2384 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446159.1:c.2158C>T" ], "proteinEffect": { "hgvs": "XP_024301927.1:p.Arg720Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579833" }, { "coordinates": [ { "allele": "T", "end": 3440, "referenceAllele": "C", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446160.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_024301928.1:p.Arg1072Ter", "hgvsWellDefined": "XP_024301928.1:p.Arg1072_Leu1728delinsGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluGlyGluLeuMetProHisArgThrAlaThrSerProLysGluThrValGluGluGlyValGluHisAspProGlyMetProAlaSerLysLysMetGlnGlyGluArgGlyGlyGlyAlaAlaLeuLysGluAsnValCysGlnAsnCysGluLysLeuGlyGluLeuLeuLeuCysGluAlaGlnCysCysGlyAlaPheHisLeuGluCysLeuGlyLeuThrGluMetProArgGlyLysPheIleCysAsnGluCysArgThrGlyIleHisThrCysPheValCysLysGlnSerGlyGluAspValLysArgCysLeuLeuProLeuCysGlyLysPheTyrHisGluGluCysValGlnLysTyrProProThrValMetGlnAsnLysGlyPheArgCysSerLeuHisIleCysIleThrCysHisAlaAlaAsnProAlaAsnValSerAlaSerLysGlyArgLeuMetArgCysValArgCysProValAlaTyrHisAlaAsnAspPheCysLeuAlaAlaGlySerLysIleLeuAlaSerAsnSerIleIleCysProAsnHisPheThrProArgArgGlyCysArgAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579834" }, { "coordinates": [ { "allele": "T", "end": 3440, "referenceAllele": "C", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446161.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_024301929.1:p.Arg1072Ter", "hgvsWellDefined": "XP_024301929.1:p.Arg1072_Glu1499delinsGluArgGlyGlySerLeuArgGlyGlyAlaGluAspProSerLysGluAspProLeuGlnIleMetGlyHisLeuThrSerGluAspGlyAspHisPheSerAspValHisPheAspSerLysValLysGlnSerAspProGlyLysIleSerGluLysGlyLeuSerPheGluAsnGlyLysGlyProGluLeuAspSerValMetAsnSerGluAsnAspGluLeuAsnGlyValAsnGlnValValProLysLysArgTrpGlnArgLeuAsnGlnArgArgThrLysProArgLysArgMetAsnArgPheLysGluLysGluAsnSerGluCysAlaPheArgValLeuLeuProSerAspProValGlnGluGlyArgAspGluPheProGluHisArgThrProSerAlaSerIleLeuGluGluProLeuThrGluGlnAsnHisAlaAspCysLeuAspSerAlaGlyProArgLeuAsnValCysAspLysSerSerAlaSerIleGlyAspMetGluLysGluProGlyIleProSerLeuThrProGlnAlaGluLeuProGluProAlaValArgSerGluLysLysArgLeuArgLysProSerLysTrpLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579835" }, { "coordinates": [ { "allele": "T", "end": 2333, "referenceAllele": "C", "start": 2332 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "XM_024446162.1:c.-782C>T" ], "proteinEffect": { "hgvs": "XP_024301930.1:n.-782C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "T", "end": 3411, "referenceAllele": "C", "start": 3410 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.3214C>T" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Arg1072Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.3214C>T" }, "RefSeq": { "hgvs": "NM_022455.5:c.3214C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Arg1072Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Arg1072Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2631, "referenceAllele": "C", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.2407C>T" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Arg803Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }