{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA257916", "communityStandardTitle": [ "NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32444[alleleid]", "alleleId": 32444, "preferredName": "NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17405", "RCV": [ "RCV000018948", "RCV002513114", "RCV002496408" ], "variationId": 17405 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227896765G>T?assembly=hg19", "id": "chr2:g.227896765G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227032049G>T?assembly=hg38", "id": "chr2:g.227032049G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121912859", "rs": 121912859 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227032049, "referenceAllele": "G", "start": 227032048 } ], "hgvs": [ "NC_000002.12:g.227032049G>T", "CM000664.2:g.227032049G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227896765, "referenceAllele": "G", "start": 227896764 } ], "hgvs": [ "NC_000002.11:g.227896765G>T", "CM000664.1:g.227896765G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227605009, "referenceAllele": "G", "start": 227605008 } ], "hgvs": [ "NC_000002.10:g.227605009G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 137511, "referenceAllele": "C", "start": 137510 } ], "hgvs": [ "NG_011592.1:g.137511C>A", "LRG_231:g.137511C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001840" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4013, "referenceAllele": "C", "start": 4012 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.5:c.3713C>A" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Ser1238Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.3713C>A" }, "RefSeq": { "hgvs": "NM_000092.5:c.3713C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Ser1238Ter" }, "RefSeq": { "hgvs": "NP_000083.3:p.Ser1238Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3921, "referenceAllele": "C", "start": 3920 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.3:c.3713C>A" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Ser1238Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277360" }, { "@id": "http://reg.genome.network/allele/PA257918", "coordinates": [ { "allele": "A", "end": 4367, "referenceAllele": "C", "start": 4366 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.4:c.3713C>A", "LRG_231t1:c.3713C>A" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Ser1238Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006156" }, { "coordinates": [ { "allele": "A", "end": 3898, "referenceAllele": "C", "start": 3897 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.2:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Ser1238Ter", "hgvsWellDefined": "XP_005246338.1:p.Ser1238_Ser1690delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057551" }, { "coordinates": [ { "allele": "A", "end": 3468, "referenceAllele": "C", "start": 3467 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.2:c.3158C>A" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Ser1053Ter", "hgvsWellDefined": "XP_005246339.1:p.Ser1053_Ser1505delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057552" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.2:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Ser1238Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069541" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712249.2:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_006712312.1:p.Ser1238Ter", "hgvsWellDefined": "XP_006712312.1:p.Ser1238_Val1611delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValValSerAlaSerArgTyrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069542" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712251.2:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_006712314.1:p.Ser1238Ter", "hgvsWellDefined": "XP_006712314.1:p.Ser1238_Ser1445delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyThrGlnGluLeuGluAlaGluLeuAsnPheValProLeuValPheLeuValValProGlnAsnGlnGluValLysCysProArgAspValProLeuAsnArgSerGlnThrArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069543" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712252.2:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_006712315.1:p.Ser1238Ter", "hgvsWellDefined": "XP_006712315.1:p.Ser1238_Asn1420delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyGlyThrArgGlyArgGlnThrAlaLeuArgLysThrCysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069544" }, { "coordinates": [ { "allele": "A", "end": 3942, "referenceAllele": "C", "start": 3941 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.1:c.3632C>A" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Ser1211Ter", "hgvsWellDefined": 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"XP_011508874.1:p.Ser680_Ser1132delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077835" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922837.1:n.4023C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS119899" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922838.1:n.4023C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS119900" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922839.1:n.4023C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS119901" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "C", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922840.1:n.4023C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS119902" }, { "coordinates": [ { "allele": "A", "end": 3901, "referenceAllele": "C", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.3:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Ser1238Ter", "hgvsWellDefined": "XP_005246338.1:p.Ser1238_Ser1690delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532576" }, { "coordinates": [ { "allele": "A", "end": 3484, "referenceAllele": "C", "start": 3483 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.3:c.3158C>A" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Ser1053Ter", "hgvsWellDefined": "XP_005246339.1:p.Ser1053_Ser1505delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532577" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "C", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.3:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Ser1238Ter", "hgvsWellDefined": "XP_006712309.1:p.Ser1238_Ser1627delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538214" }, { "coordinates": [ { "allele": "A", "end": 3958, "referenceAllele": "C", "start": 3957 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.2:c.3632C>A" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Ser1211Ter", "hgvsWellDefined": "XP_011508859.1:p.Ser1211_Ser1663delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541766" }, { "coordinates": [ { "allele": "A", "end": 3931, "referenceAllele": "C", "start": 3930 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.2:c.3605C>A" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Ser1202Ter", "hgvsWellDefined": "XP_011508860.1:p.Ser1202_Ser1654delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541767" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "C", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510559.2:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_011508861.1:p.Ser1238Ter", "hgvsWellDefined": "XP_011508861.1:p.Ser1238_Leu1612delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValGluLeuGluGluAspLysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541768" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "C", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510560.2:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_011508862.1:p.Ser1238Ter", "hgvsWellDefined": "XP_011508862.1:p.Ser1238_Leu1612delinsGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetValGluLeuGluGluAspLysLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541769" }, { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "C", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510561.2:c.3713C>A" ], "proteinEffect": { "hgvs": "XP_011508863.1:p.Ser1238Ter", "hgvsWellDefined": 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