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"referenceAllele": "G", "start": 227051025 } ], "hgvs": [ "NC_000002.12:g.227051026G>T", "CM000664.2:g.227051026G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227915742, "referenceAllele": "G", "start": 227915741 } ], "hgvs": [ "NC_000002.11:g.227915742G>T", "CM000664.1:g.227915742G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227623986, "referenceAllele": "G", "start": 227623985 } ], "hgvs": [ "NC_000002.10:g.227623986G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 118534, "referenceAllele": "C", "start": 118533 } ], "hgvs": [ "NG_011592.1:g.118534C>A", "LRG_231:g.118534C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001840" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3401, "referenceAllele": "C", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.5:c.3101C>A" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Ser1034Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277360" }, { "@id": "http://reg.genome.network/allele/PA915956461", "coordinates": [ { "allele": "A", "end": 3755, "referenceAllele": "C", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.4:c.3101C>A", "LRG_231t1:c.3101C>A" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Ser1034Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006156" }, { "coordinates": [ { "allele": "A", "end": 3286, "referenceAllele": "C", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.2:c.3101C>A" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Ser1034Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057551" }, { "coordinates": [ { "allele": "A", "end": 2856, "referenceAllele": "C", "start": 2855 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.2:c.2546C>A" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Ser849Ter", "hgvsWellDefined": "XP_005246339.1:p.Ser849_Ser1505delinsThrGlyLeuArgGlyPheIleGlyPheProGlyLeuProGlyAspGlnGlyGluProGlySerProGlyProProGlyPheSerGlyIleAspGlyAlaArgGlyProLysGlyAsnLysGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057552" }, { "coordinates": [ { "allele": "A", "end": 3411, "referenceAllele": "C", "start": 3410 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.2:c.3101C>A" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Ser1034Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069541" }, { "coordinates": [ { "allele": "A", "end": 3411, "referenceAllele": "C", "start": 3410 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712249.2:c.3101C>A" ], "proteinEffect": { "hgvs": "XP_006712312.1:p.Ser1034Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS541769" }, { "coordinates": [ { "allele": "A", "end": 3427, "referenceAllele": "C", "start": 3426 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510561.2:c.3101C>A" ], "proteinEffect": { "hgvs": "XP_011508863.1:p.Ser1034Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559070" }, { "coordinates": [ { "allele": "A", "end": 3427, "referenceAllele": "C", "start": 3426 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003300.1:c.3101C>A" ], "proteinEffect": { "hgvs": "XP_016858789.1:p.Ser1034Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.3101C>A" }, "RefSeq": { "hgvs": "NM_000092.5:c.3101C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Ser1034Ter" }, "RefSeq": { "hgvs": "NP_000083.3:p.Ser1034Ter" } } } } ], "type": "nucleotide" }