{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA321707", "communityStandardTitle": [ "NM_000071.3(CBS):c.162G>A (p.Trp54Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210449[alleleid]", "alleleId": 210449, "preferredName": "NM_000071.3(CBS):c.162G>A (p.Trp54Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212873", "RCV": [ "RCV000409663", "RCV002229029", "RCV002282028" ], "variationId": 212873 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.43072032C>T?assembly=hg38", "id": "chr21:g.43072032C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199948079", "rs": 199948079 } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 43072032, "referenceAllele": "C", "start": 43072031 } ], "hgvs": [ "NC_000021.9:g.43072032C>T", "CM000683.2:g.43072032C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "coordinates": [ { "allele": "A", "end": 8899, "referenceAllele": "G", "start": 8898 } ], "hgvs": [ "NG_008938.1:g.8899G>A", "LRG_777:g.8899G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001316" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.8:c.162G>A" ], "proteinEffect": { "hgvs": "ENSP00000381231.4:p.Trp54Ter", "hgvsWellDefined": "ENSP00000381231.4:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.162G>A" }, "RefSeq": { "hgvs": "NM_000071.3:c.162G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Trp54Ter" }, "RefSeq": { "hgvs": "NP_000062.1:p.Trp54Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000352178.9:c.162G>A" ], "proteinEffect": { "hgvs": "ENSP00000344460.5:p.Trp54Ter", "hgvsWellDefined": "ENSP00000344460.5:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262839" }, { "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000359624.7:c.162G>A" ], "proteinEffect": { "hgvs": "ENSP00000352643.3:p.Trp54Ter", "hgvsWellDefined": "ENSP00000352643.3:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264850" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "G", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398158.5:c.162G>A" ], "proteinEffect": { "hgvs": "ENSP00000381225.1:p.Trp54Ter", "hgvsWellDefined": "ENSP00000381225.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278160" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "G", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.7:c.162G>A" ], "proteinEffect": { "hgvs": "ENSP00000381231.3:p.Trp54Ter", "hgvsWellDefined": "ENSP00000381231.3:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278163" }, { "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000441030.5:c.162G>A" ], "proteinEffect": { "hgvs": "ENSP00000388235.1:p.Trp54Ter", "hgvsWellDefined": "ENSP00000388235.1:p.Trp54_Lys177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS296184" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000465732.5:n.341G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309274" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "G", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000470912.5:n.422G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS313228" }, { "coordinates": [ { "allele": "A", "end": 413, "referenceAllele": "G", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000488526.1:n.413G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326807" }, { "@id": "http://reg.genome.network/allele/PA321709", "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "G", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.2:c.162G>A", "LRG_777t1:c.162G>A" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Trp54Ter", "hgvsWellDefined": "NP_000062.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006135" }, { "@id": "http://reg.genome.network/allele/PA2826132597", "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.1:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Trp54Ter", "hgvsWellDefined": "NP_001171479.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015804" }, { "@id": "http://reg.genome.network/allele/PA2826133276", "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "G", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.1:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Trp54Ter", "hgvsWellDefined": "NP_001171480.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015805" }, { "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "G", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.1:c.162G>A" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Trp54Ter", "hgvsWellDefined": "XP_011528079.1:p.Trp54_Lys565delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096842" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529778.1:c.162G>A" ], "proteinEffect": { "hgvs": "XP_011528080.1:p.Trp54Ter", "hgvsWellDefined": "XP_011528080.1:p.Trp54_Lys565delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096843" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529779.1:c.162G>A" ], "proteinEffect": { "hgvs": "XP_011528081.1:p.Trp54Ter", "hgvsWellDefined": "XP_011528081.1:p.Trp54_Lys565delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096844" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529781.1:c.162G>A" ], "proteinEffect": { "hgvs": "XP_011528083.1:p.Trp54Ter", "hgvsWellDefined": "XP_011528083.1:p.Trp54_Lys565delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096845" }, { "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "G", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529782.1:c.162G>A" ], "proteinEffect": { "hgvs": "XP_011528084.1:p.Trp54Ter", "hgvsWellDefined": "XP_011528084.1:p.Trp54_Lys565delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS096846" }, { "@id": "http://reg.genome.network/allele/PA2826132597", "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.2:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Trp54Ter", "hgvsWellDefined": "NP_001171479.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511745" }, { "@id": "http://reg.genome.network/allele/PA2826133276", "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.2:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Trp54Ter", "hgvsWellDefined": "NP_001171480.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511746" }, { "@id": "http://reg.genome.network/allele/PA916024369", "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.1:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Trp54Ter", "hgvsWellDefined": "NP_001307227.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513529" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.2:c.162G>A" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Trp54Ter", "hgvsWellDefined": "XP_011528079.1:p.Trp54_Lys565delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnSerGlnAspGlnAlaTrpAlaGlyValValGlyGlyProAlaAspHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549666" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_017028491.2:c.162G>A" ], "proteinEffect": { "hgvs": "XP_016883980.1:p.Trp54Ter", "hgvsWellDefined": "XP_016883980.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578228" }, { "coordinates": [ { "allele": "A", "end": 277, "referenceAllele": "G", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452136.1:c.-607G>A" ], "proteinEffect": { "hgvs": "XP_024307904.1:n.-607G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585638" }, { "coordinates": [ { "allele": "A", "end": 277, "referenceAllele": "G", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452137.1:c.-607G>A" ], "proteinEffect": { "hgvs": "XP_024307905.1:n.-607G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585639" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452138.1:c.-885G>A" ], "proteinEffect": { "hgvs": "XP_024307906.1:n.-885G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585640" }, { "coordinates": [ { "allele": "A", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452139.1:c.-885G>A" ], "proteinEffect": { "hgvs": "XP_024307907.1:n.-885G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585641" }, { "coordinates": [ { "allele": "A", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452140.1:c.-885G>A" ], "proteinEffect": { "hgvs": "XP_024307908.1:n.-885G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585642" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754916.2:n.312G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600858" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754917.2:n.312G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600859" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_002958634.1:n.312G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604759" }, { "@id": "http://reg.genome.network/allele/PA321709", "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.3:c.162G>A" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Trp54Ter", "hgvsWellDefined": "NP_000062.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.162G>A" }, "RefSeq": { "hgvs": "NM_000071.3:c.162G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Trp54Ter" }, "RefSeq": { "hgvs": "NP_000062.1:p.Trp54Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826133276", "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Trp54Ter", "hgvsWellDefined": "NP_001171480.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826132597", "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Trp54Ter", "hgvsWellDefined": "NP_001171479.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA916024369", "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.162G>A" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Trp54Ter", "hgvsWellDefined": "NP_001307227.1:p.Trp54_Lys551delinsGlnLeuGlyArgProAlaSerGluSerProHisHisHisThrAlaProAlaLysSerProLysIleLeuProAspIleLeuLysLysIleGlyAspThrProMetValArgIleAsnLysIleGlyLysLysPheGlyLeuLysCysGluLeuLeuAlaLysCysGluPhePheAsnAlaGlyGlySerValLysAspArgIleSerLeuArgMetIleGluAspAlaGluArgAspGlyThrLeuLysProGlyAspThrIleIleGluProThrSerGlyAsnThrGlyIleGlyLeuAlaLeuAlaAlaAlaValArgGlyTyrArgCysIleIleValMetProGluLysMetSerSerGluLysValAspValLeuArgAlaLeuGlyAlaGluIleValArgThrProThrAsnAlaArgPheAspSerProGluSerHisValGlyValAlaTrpArgLeuLysAsnGluIleProAsnSerHisIleLeuAspGlnTyrArgAsnAlaSerAsnProLeuAlaHisTyrAspThrThrAlaAspGluIleLeuGlnGlnCysAspGlyLysLeuAspMetLeuValAlaSerValGlyThrGlyGlyThrIleThrGlyIleAlaArgLysLeuLysGluLysCysProGlyCysArgIleIleGlyValAspProGluGlySerIleLeuAlaGluProGluGluLeuAsnGlnThrGluGlnThrThrTyrGluValGluGlyIleGlyTyrAspPheIleProThrValLeuAspArgThrValValAspLysTrpPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }