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"referenceAllele": "G", "start": 1902 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452137.1:c.1020G>A" ], "proteinEffect": { "hgvs": "XP_024307905.1:p.Trp340Ter", "hgvsWellDefined": "XP_024307905.1:p.Trp340_Lys568delinsPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": 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"gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452140.1:c.654G>A" ], "proteinEffect": { "hgvs": "XP_024307908.1:p.Trp218Ter", "hgvsWellDefined": "XP_024307908.1:p.Trp218_Lys446delinsPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585642" }, { "coordinates": [ { "allele": "A", "end": 1340, "referenceAllele": "G", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754915.1:n.1340G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600857" }, { "coordinates": [ { "allele": "A", "end": 1119, "referenceAllele": "G", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754916.2:n.1119G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600858" }, { "coordinates": [ { "allele": "A", "end": 1119, "referenceAllele": "G", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754917.2:n.1119G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600859" }, { "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_002958634.1:n.1940G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604759" }, { "@id": "http://reg.genome.network/allele/PA321447", "coordinates": [ { "allele": "A", "end": 1119, "referenceAllele": "G", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.3:c.969G>A" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Trp323Ter", "hgvsWellDefined": "NP_000062.1:p.Trp323_Lys551delinsPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.969G>A" }, "RefSeq": { "hgvs": "NM_000071.3:c.969G>A" } }, "protein": { "Ensembl": { 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"geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.969G>A" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Trp323Ter", "hgvsWellDefined": "NP_001171479.1:p.Trp323_Lys551delinsPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA916024420", "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.969G>A" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Trp323Ter", "hgvsWellDefined": "NP_001307227.1:p.Trp323_Lys551delinsPheLysSerAsnAspGluGluAlaPheThrPheAlaArgMetLeuIleAlaGlnGluGlyLeuLeuCysGlyGlySerAlaGlySerThrValAlaValAlaValLysAlaAlaGlnGluLeuGlnGluGlyGlnArgCysValValIleLeuProAspSerValArgAsnTyrMetThrLysPheLeuSerAspArgTrpMetLeuGlnLysGlyPheLeuLysGluGluAspLeuThrGluLysLysProTrpTrpTrpHisLeuArgValGlnGluLeuGlyLeuSerAlaProLeuThrValLeuProThrIleThrCysGlyHisThrIleGluIleLeuArgGluLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }