{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350857349", "communityStandardTitle": [ "NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036726[alleleid]", "alleleId": 1036726, "preferredName": "NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048649", "RCV": [ "RCV001353239" ], "variationId": 1048649 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.228157940A>T?assembly=hg19", "id": "chr2:g.228157940A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227293224A>T?assembly=hg38", "id": "chr2:g.227293224A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2106226493", "rs": 2106226493 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227293224, "referenceAllele": "A", "start": 227293223 } ], "hgvs": [ "NC_000002.12:g.227293224A>T", "CM000664.2:g.227293224A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 228157940, "referenceAllele": "A", "start": 228157939 } ], "hgvs": [ "NC_000002.11:g.228157940A>T", "CM000664.1:g.228157940A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227866184, "referenceAllele": "A", "start": 227866183 } ], "hgvs": [ "NC_000002.10:g.227866184A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 133660, "referenceAllele": "A", "start": 133659 } ], "hgvs": [ "NG_011591.1:g.133660A>T", "LRG_230:g.133660A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001839" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3347, "referenceAllele": "A", "start": 3346 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "ENST00000396578.8:c.3244A>T" ], "proteinEffect": { "hgvs": "ENSP00000379823.3:p.Lys1082Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753536", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396578.8:c.3244A>T" }, "RefSeq": { "hgvs": "NM_000091.5:c.3244A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379823.3:p.Lys1082Ter" }, "RefSeq": { "hgvs": "NP_000082.2:p.Lys1082Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "A", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "ENST00000304990.8:c.355A>T" ], "proteinEffect": { "hgvs": "ENSP00000302781.8:p.Lys119Ter", "hgvsWellDefined": "ENSP00000302781.8:p.Lys119_Leu156delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProValProAlaAlaProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255540" }, { "coordinates": [ { "allele": "T", "end": 3406, "referenceAllele": "A", "start": 3405 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "ENST00000396578.7:c.3244A>T" ], "proteinEffect": { "hgvs": "ENSP00000379823.3:p.Lys1082Ter", "hgvsWellDefined": "ENSP00000379823.3:p.Lys1082_His1670delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277337" }, { "@id": "http://reg.genome.network/allele/PA2499228197", "coordinates": [ { "allele": "T", "end": 3406, "referenceAllele": "A", "start": 3405 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "NM_000091.4:c.3244A>T", "LRG_230t1:c.3244A>T" ], "proteinEffect": { "hgvs": "NP_000082.2:p.Lys1082Ter", "hgvsWellDefined": "NP_000082.2:p.Lys1082_His1670delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006155" }, { "coordinates": [ { "allele": "A", "end": 243, "endIntronDirection": "-", "endIntronOffset": 11434, "referenceAllele": "T", "start": 243, "startIntronDirection": "-", "startIntronOffset": 11435 } ], "gene": "http://reg.genome.network/gene/GN041067", "geneNCBI_id": 654841, "geneSymbol": "MFF-DT", "hgvs": [ "NR_102371.1:n.244-11435T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052797" }, { "coordinates": [ { "allele": "T", "end": 3382, "referenceAllele": "A", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246276.2:c.3244A>T" ], "proteinEffect": { "hgvs": "XP_005246333.1:p.Lys1082Ter", "hgvsWellDefined": "XP_005246333.1:p.Lys1082_Ile1637delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetLysAlaTyrSerIleAsnCysGluSerTrpGlyIleArgLysAsnAsnLysSerLeuSerGlyValHisGluGluLysThrLeuLysLeuLysLysThrAlaGluLeuLeuPhePheIleLeuLysAsnLysValMetThrGluHisAlaValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057548" }, { "coordinates": [ { "allele": "T", "end": 3277, "referenceAllele": "A", "start": 3276 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246277.2:c.3139A>T" ], "proteinEffect": { "hgvs": "XP_005246334.1:p.Lys1047Ter", "hgvsWellDefined": "XP_005246334.1:p.Lys1047_His1635delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057549" }, { "coordinates": [ { "allele": "T", "end": 3305, "referenceAllele": "A", "start": 3304 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246280.2:c.*11A>T" ], "proteinEffect": { "hgvs": "XP_005246337.1:n.*11A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057550" }, { "coordinates": [ { "allele": "T", "end": 3382, "referenceAllele": "A", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_006712245.2:c.3244A>T" ], "proteinEffect": { "hgvs": "XP_006712308.1:p.Lys1082Ter", "hgvsWellDefined": "XP_006712308.1:p.Lys1082_Gly1189delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069540" }, { "coordinates": [ { "allele": "T", "end": 3382, "referenceAllele": "A", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510555.1:c.3244A>T" ], "proteinEffect": { "hgvs": "XP_011508857.1:p.Lys1082Ter", "hgvsWellDefined": "XP_011508857.1:p.Lys1082_Phe1609delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetValLeuArgAlaProGlyLysHisTrpProProLeuAlaProAlaTrpLysAsnSerGluProAlaHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077818" }, { "coordinates": [ { "allele": "T", "end": 2438, "referenceAllele": "A", "start": 2437 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510556.1:c.2005A>T" ], "proteinEffect": { "hgvs": "XP_011508858.1:p.Lys669Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS077819" }, { "coordinates": [ { "allele": "T", "end": 3382, "referenceAllele": "A", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_241280.2:n.3382A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116013" }, { "coordinates": [ { "allele": "T", "end": 3277, "referenceAllele": "A", "start": 3276 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246277.3:c.3139A>T" ], "proteinEffect": { "hgvs": "XP_005246334.1:p.Lys1047Ter", "hgvsWellDefined": "XP_005246334.1:p.Lys1047_His1635delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532574" }, { "coordinates": [ { "allele": "T", "end": 3305, "referenceAllele": "A", "start": 3304 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246280.3:c.*11A>T" ], "proteinEffect": { "hgvs": "XP_005246337.1:n.*11A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532575" }, { "coordinates": [ { "allele": "T", "end": 3382, "referenceAllele": "A", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_006712245.3:c.3244A>T" ], "proteinEffect": { "hgvs": "XP_006712308.1:p.Lys1082Ter", "hgvsWellDefined": "XP_006712308.1:p.Lys1082_Gly1189delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538213" }, { "coordinates": [ { "allele": "T", "end": 2438, "referenceAllele": "A", "start": 2437 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510556.2:c.2005A>T" ], "proteinEffect": { "hgvs": "XP_011508858.1:p.Lys669Ter", "hgvsWellDefined": "XP_011508858.1:p.Lys669_His1257delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541765" }, { "coordinates": [ { "allele": "T", "end": 3382, "referenceAllele": "A", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_017003295.1:c.3244A>T" ], "proteinEffect": { "hgvs": "XP_016858784.1:p.Lys1082Ter", "hgvsWellDefined": "XP_016858784.1:p.Lys1082_Leu1119delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProValProAlaAlaProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559066" }, { "coordinates": [ { "allele": "T", "end": 3382, "referenceAllele": "A", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_001738601.1:n.3382A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589090" }, { "coordinates": [ { "allele": "T", "end": 3382, "referenceAllele": "A", "start": 3381 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_241280.3:n.3382A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605830" }, { "@id": "http://reg.genome.network/allele/PA2499228197", "coordinates": [ { "allele": "T", "end": 3347, "referenceAllele": "A", "start": 3346 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "NM_000091.5:c.3244A>T" ], "proteinEffect": { "hgvs": "NP_000082.2:p.Lys1082Ter", "hgvsWellDefined": "NP_000082.2:p.Lys1082_His1670delinsGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674698", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396578.8:c.3244A>T" }, "RefSeq": { "hgvs": "NM_000091.5:c.3244A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379823.3:p.Lys1082Ter" }, "RefSeq": { "hgvs": "NP_000082.2:p.Lys1082Ter" } } } } ], "type": "nucleotide" }