{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350852248", "communityStandardTitle": [ "NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971774[alleleid]", "alleleId": 971774, "preferredName": "NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983592", "RCV": [ "RCV001263591" ], "variationId": 983592 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.228149014C>A?assembly=hg19", "id": "chr2:g.228149014C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227284298C>A?assembly=hg38", "id": "chr2:g.227284298C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2072184526", "rs": 2072184526 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227284298, "referenceAllele": "C", "start": 227284297 } ], "hgvs": [ "NC_000002.12:g.227284298C>A", "CM000664.2:g.227284298C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 228149014, "referenceAllele": "C", "start": 228149013 } ], "hgvs": [ "NC_000002.11:g.228149014C>A", "CM000664.1:g.228149014C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227857258, "referenceAllele": "C", "start": 227857257 } ], "hgvs": [ "NC_000002.10:g.227857258C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 124734, "referenceAllele": "C", "start": 124733 } ], "hgvs": [ "NG_011591.1:g.124734C>A", "LRG_230:g.124734C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001839" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2937, "referenceAllele": "C", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "ENST00000396578.8:c.2834C>A" ], "proteinEffect": { "hgvs": "ENSP00000379823.3:p.Ser945Ter", "hgvsWellDefined": "ENSP00000379823.3:p.Ser945_His1670delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753536", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396578.8:c.2834C>A" }, "RefSeq": { "hgvs": "NM_000091.5:c.2834C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379823.3:p.Ser945Ter" }, "RefSeq": { "hgvs": "NP_000082.2:p.Ser945Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2996, "referenceAllele": "C", "start": 2995 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "ENST00000396578.7:c.2834C>A" ], "proteinEffect": { "hgvs": "ENSP00000379823.3:p.Ser945Ter", "hgvsWellDefined": "ENSP00000379823.3:p.Ser945_His1670delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277337" }, { "@id": "http://reg.genome.network/allele/PA1139696569", "coordinates": [ { "allele": "A", "end": 2996, "referenceAllele": "C", "start": 2995 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "NM_000091.4:c.2834C>A", "LRG_230t1:c.2834C>A" ], "proteinEffect": { "hgvs": "NP_000082.2:p.Ser945Ter", "hgvsWellDefined": "NP_000082.2:p.Ser945_His1670delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006155" }, { "coordinates": [ { "allele": "T", "end": 243, "endIntronDirection": "-", "endIntronOffset": 2508, "referenceAllele": "G", "start": 243, "startIntronDirection": "-", "startIntronOffset": 2509 } ], "gene": "http://reg.genome.network/gene/GN041067", "geneNCBI_id": 654841, "geneSymbol": "MFF-DT", "hgvs": [ "NR_102371.1:n.244-2509G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052797" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246276.2:c.2834C>A" ], "proteinEffect": { "hgvs": "XP_005246333.1:p.Ser945Ter", "hgvsWellDefined": "XP_005246333.1:p.Ser945_Ile1637delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetLysAlaTyrSerIleAsnCysGluSerTrpGlyIleArgLysAsnAsnLysSerLeuSerGlyValHisGluGluLysThrLeuLysLeuLysLysThrAlaGluLeuLeuPhePheIleLeuLysAsnLysValMetThrGluHisAlaValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057548" }, { "coordinates": [ { "allele": "A", "end": 2867, "referenceAllele": "C", "start": 2866 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246277.2:c.2729C>A" ], "proteinEffect": { "hgvs": "XP_005246334.1:p.Ser910Ter", "hgvsWellDefined": "XP_005246334.1:p.Ser910_His1635delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057549" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246280.2:c.2834C>A" ], "proteinEffect": { "hgvs": "XP_005246337.1:p.Ser945Ter", "hgvsWellDefined": "XP_005246337.1:p.Ser945_Gly1051delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyGlySerArgThrAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057550" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_006712245.2:c.2834C>A" ], "proteinEffect": { "hgvs": "XP_006712308.1:p.Ser945Ter", "hgvsWellDefined": "XP_006712308.1:p.Ser945_Gly1189delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069540" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510555.1:c.2834C>A" ], "proteinEffect": { "hgvs": "XP_011508857.1:p.Ser945Ter", "hgvsWellDefined": "XP_011508857.1:p.Ser945_Phe1609delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetValLeuArgAlaProGlyLysHisTrpProProLeuAlaProAlaTrpLysAsnSerGluProAlaHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077818" }, { "coordinates": [ { "allele": "A", "end": 2028, "referenceAllele": "C", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510556.1:c.1595C>A" ], "proteinEffect": { "hgvs": "XP_011508858.1:p.Ser532Ter", "hgvsWellDefined": "XP_011508858.1:p.Ser532_His1257delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077819" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_241280.2:n.2972C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116013" }, { "coordinates": [ { "allele": "A", "end": 2867, "referenceAllele": "C", "start": 2866 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246277.3:c.2729C>A" ], "proteinEffect": { "hgvs": "XP_005246334.1:p.Ser910Ter", "hgvsWellDefined": "XP_005246334.1:p.Ser910_His1635delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532574" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246280.3:c.2834C>A" ], "proteinEffect": { "hgvs": "XP_005246337.1:p.Ser945Ter", "hgvsWellDefined": "XP_005246337.1:p.Ser945_Gly1051delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyGlySerArgThrAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532575" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_006712245.3:c.2834C>A" ], "proteinEffect": { "hgvs": "XP_006712308.1:p.Ser945Ter", "hgvsWellDefined": "XP_006712308.1:p.Ser945_Gly1189delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538213" }, { "coordinates": [ { "allele": "A", "end": 2028, "referenceAllele": "C", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510556.2:c.1595C>A" ], "proteinEffect": { "hgvs": "XP_011508858.1:p.Ser532Ter", "hgvsWellDefined": "XP_011508858.1:p.Ser532_His1257delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541765" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_017003295.1:c.2834C>A" ], "proteinEffect": { "hgvs": "XP_016858784.1:p.Ser945Ter", "hgvsWellDefined": "XP_016858784.1:p.Ser945_Leu1119delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProValProAlaAlaProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559066" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_001738601.1:n.2972C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589090" }, { "coordinates": [ { "allele": "A", "end": 2972, "referenceAllele": "C", "start": 2971 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_241280.3:n.2972C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605830" }, { "@id": "http://reg.genome.network/allele/PA1139696569", "coordinates": [ { "allele": "A", "end": 2937, "referenceAllele": "C", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "NM_000091.5:c.2834C>A" ], "proteinEffect": { "hgvs": "NP_000082.2:p.Ser945Ter", "hgvsWellDefined": "NP_000082.2:p.Ser945_His1670delinsGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674698", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396578.8:c.2834C>A" }, "RefSeq": { "hgvs": "NM_000091.5:c.2834C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379823.3:p.Ser945Ter" }, "RefSeq": { "hgvs": "NP_000082.2:p.Ser945Ter" } } } } ], "type": "nucleotide" }