{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA402325048", "communityStandardTitle": [ "NM_015559.3(SETBP1):c.3725G>A (p.Trp1242Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5595296", "active": true, "id": "COSM5595296" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2523223[alleleid]", "alleleId": 2523223, "preferredName": "NM_015559.3(SETBP1):c.3725G>A (p.Trp1242Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2500325", "RCV": [ "RCV003224983" ], "variationId": 2500325 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.42533030G>A?assembly=hg19", "id": "chr18:g.42533030G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.44953065G>A?assembly=hg38", "id": "chr18:g.44953065G>A" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS776745" }, { "coordinates": [ { "allele": "A", "end": 4143, "referenceAllele": "G", "start": 4142 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "ENST00000677130.1:c.3725G>A" ], "proteinEffect": { "hgvs": "ENSP00000503094.1:p.Trp1242Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS776796" }, { "coordinates": [ { "allele": "A", "end": 4031, "referenceAllele": "G", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "ENST00000677699.1:c.3725G>A" ], "proteinEffect": { "hgvs": "ENSP00000503964.1:p.Trp1242Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS777356" }, { "coordinates": [ { "allele": "A", "end": 3971, "referenceAllele": "G", "start": 3970 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "ENST00000678152.1:c.3725G>A" ], "proteinEffect": { "hgvs": "ENSP00000502995.1:p.Trp1242Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS777802" }, { "coordinates": [ { "allele": "A", "end": 4021, "referenceAllele": "G", "start": 4020 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "ENST00000282030.5:c.3725G>A" ], "proteinEffect": { "hgvs": "ENSP00000282030.5:p.Trp1242Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS253041" }, { "@id": "http://reg.genome.network/allele/PA2580398731", "coordinates": [ { "allele": "A", "end": 4021, "referenceAllele": "G", "start": 4020 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "NM_015559.2:c.3725G>A" ], "proteinEffect": { "hgvs": "NP_056374.2:p.Trp1242Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS034110" }, { "coordinates": [ { "allele": "A", "end": 3982, "referenceAllele": "G", "start": 3981 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_005258243.3:c.3725G>A" ], "proteinEffect": { "hgvs": "XP_005258300.1:p.Trp1242Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS062013" }, { "@id": "http://reg.genome.network/allele/PA2580398731", "coordinates": [ { "allele": "A", "end": 4031, "referenceAllele": "G", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "NM_015559.3:c.3725G>A" ], "proteinEffect": { "hgvs": "NP_056374.2:p.Trp1242Ter", "hgvsWellDefined": "NP_056374.2:p.Trp1242_Pro1596delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525697", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649279.2:c.3725G>A" }, "RefSeq": { "hgvs": "NM_015559.3:c.3725G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497406.1:p.Trp1242Ter" }, "RefSeq": { "hgvs": "NP_056374.2:p.Trp1242Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4299, "referenceAllele": "G", "start": 4298 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451149.1:c.3803G>A" ], "proteinEffect": { "hgvs": "XP_024306917.1:p.Trp1268Ter", "hgvsWellDefined": "XP_024306917.1:p.Trp1268_Pro1622delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584669" }, { "coordinates": [ { "allele": "A", "end": 4141, "referenceAllele": "G", "start": 4140 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451150.1:c.3803G>A" ], "proteinEffect": { "hgvs": "XP_024306918.1:p.Trp1268Ter", "hgvsWellDefined": "XP_024306918.1:p.Trp1268_Pro1622delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584670" }, { "coordinates": [ { "allele": "A", "end": 12504, "referenceAllele": "G", "start": 12503 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451151.1:c.3803G>A" ], "proteinEffect": { "hgvs": "XP_024306919.1:p.Trp1268Ter", "hgvsWellDefined": "XP_024306919.1:p.Trp1268_Pro1622delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584671" }, { "coordinates": [ { "allele": "A", "end": 3998, "referenceAllele": "G", "start": 3997 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451152.1:c.3803G>A" ], "proteinEffect": { "hgvs": "XP_024306920.1:p.Trp1268Ter", "hgvsWellDefined": "XP_024306920.1:p.Trp1268_Pro1622delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584672" }, { "coordinates": [ { "allele": "A", "end": 4221, "referenceAllele": "G", "start": 4220 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451153.1:c.3725G>A" ], "proteinEffect": { "hgvs": "XP_024306921.1:p.Trp1242Ter", "hgvsWellDefined": "XP_024306921.1:p.Trp1242_Pro1596delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584673" }, { "coordinates": [ { "allele": "A", "end": 4216, "referenceAllele": "G", "start": 4215 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451154.1:c.3725G>A" ], "proteinEffect": { "hgvs": "XP_024306922.1:p.Trp1242Ter", "hgvsWellDefined": "XP_024306922.1:p.Trp1242_Pro1596delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584674" }, { "coordinates": [ { "allele": "A", "end": 5983, "referenceAllele": "G", "start": 5982 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451155.1:c.3725G>A" ], "proteinEffect": { "hgvs": "XP_024306923.1:p.Trp1242Ter", "hgvsWellDefined": "XP_024306923.1:p.Trp1242_Pro1596delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584675" }, { "coordinates": [ { "allele": "A", "end": 4299, "referenceAllele": "G", "start": 4298 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451156.1:c.3803G>A" ], "proteinEffect": { "hgvs": "XP_024306924.1:p.Trp1268Ter", "hgvsWellDefined": "XP_024306924.1:p.Trp1268_Pro1565delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584676" }, { "coordinates": [ { "allele": "A", "end": 14454, "referenceAllele": "G", "start": 14453 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451157.1:c.3248G>A" ], "proteinEffect": { "hgvs": "XP_024306925.1:p.Trp1083Ter", "hgvsWellDefined": "XP_024306925.1:p.Trp1083_Pro1437delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584677" }, { "coordinates": [ { "allele": "A", "end": 4299, "referenceAllele": "G", "start": 4298 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "XM_024451158.1:c.3803G>A" ], "proteinEffect": { "hgvs": "XP_024306926.1:p.Trp1268Ter", "hgvsWellDefined": "XP_024306926.1:p.Trp1268_Ser1422delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGluThrThrIleGlnGluAspLeuTyrAsnLeuGlyGluGluThrSerLysGlnLeuLeuMetLeuGlnSerGlnLeuGlnGluProSerGluSerHisArgGluArgAlaArgAlaValGlnValThrCysGluProLeuLeuCysSerGlnTrpGlyArgArgGlyGlyThrTrpLysTyrSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584678" }, { "@id": "http://reg.genome.network/allele/PA2828809627", "coordinates": [ { "allele": "A", "end": 4220, "referenceAllele": "G", "start": 4219 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "NM_001379141.1:c.3725G>A" ], "proteinEffect": { "hgvs": "NP_001366070.1:p.Trp1242Ter", "hgvsWellDefined": "NP_001366070.1:p.Trp1242_Pro1596delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721909" }, { "@id": "http://reg.genome.network/allele/PA2828810759", "coordinates": [ { "allele": "A", "end": 4064, "referenceAllele": "G", "start": 4063 } ], "gene": "http://reg.genome.network/gene/GN015573", "geneNCBI_id": 26040, "geneSymbol": "SETBP1", "hgvs": [ "NM_001379142.1:c.3725G>A" ], "proteinEffect": { "hgvs": "NP_001366071.1:p.Trp1242Ter", "hgvsWellDefined": "NP_001366071.1:p.Trp1242_Pro1596delinsThrGlnAlaLysGluLysGlyAspLeuSerSerGluProValAspSerCysThrLysArgTyrSerGlySerGlyGlyAspGlyGlySerThrArgSerGluAsnLeuAspValPheSerGluMetAsnProSerAsnAspLysTrpAspSerAspValSerGlySerLysArgArgSerTyrGluGlyPheGlyThrTyrArgGluLysAspIleGlnAlaPheLysMetAsnArgLysGluArgSerSerTyrAspSerSerMetSerProGlyMetProSerProHisLeuLysValAspGlnThrAlaValHisSerLysAsnGluGlySerValProThrMetMetThrArgLysLysProAlaAlaValAspSerValThrIleProProAlaProValLeuSerLeuLeuAlaAlaSerAlaAlaThrSerAspAlaValGlySerSerLeuLysLysArgPheLysArgArgGluIleGluAlaIleGlnCysGluValArgLysMetCysAsnTyrThrLysIleLeuSerThrLysLysAsnLeuAspHisValAsnLysIleLeuLysAlaLysArgLeuGlnArgGlnSerLysThrGlyAsnAsnPheValLysLysArgArgGlyArgProArgLysGlnProThrGlnPheAspGluAspSerArgAspGlnMetProValLeuGluLysCysIleAspLeuProSerLysArgGlyGlnLysProSerLeuSerProLeuValLeuGluProAlaAlaSerGlnAspThrIleMetAlaThrIleGluAlaValIleHisMetAlaArgGluAlaProProLeuProProProProProProProLeuProProProProProProProLeuProProProProProLeuProLysThrProArgGlyGlyLysArgLysHisLysProGlnAlaProAlaGlnProProGlnGlnSerProProGlnGlnProLeuProGlnGluGluGluValLysAlaLysArgGlnArgLysSerArgGlySerGluSerGluValLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721910" } ], "type": "nucleotide" }