{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350857395", "communityStandardTitle": [ "NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=440684[alleleid]", "alleleId": 440684, "preferredName": "NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447171", "RCV": [ "RCV000517710" ], "variationId": 447171 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.228157946G>T?assembly=hg19", "id": "chr2:g.228157946G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227293230G>T?assembly=hg38", "id": "chr2:g.227293230G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1192750535", "rs": 1192750535 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-228157946-G-T?dataset=gnomad_r2_1", "id": "2-228157946-G-T", "variant": "2:228157946 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-227293230-G-T?dataset=gnomad_r3", "id": "2-227293230-G-T", "variant": "2:227293230 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-227293230-G-T?dataset=gnomad_r4", "id": "2-227293230-G-T", "variant": "2:227293230 G / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227293230, "referenceAllele": "G", "start": 227293229 } ], "hgvs": [ "NC_000002.12:g.227293230G>T", "CM000664.2:g.227293230G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 228157946, "referenceAllele": "G", "start": 228157945 } ], "hgvs": [ "NC_000002.11:g.228157946G>T", "CM000664.1:g.228157946G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227866190, "referenceAllele": "G", "start": 227866189 } ], "hgvs": [ "NC_000002.10:g.227866190G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 133666, "referenceAllele": "G", "start": 133665 } ], "hgvs": [ "NG_011591.1:g.133666G>T", "LRG_230:g.133666G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001839" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3353, "referenceAllele": "G", "start": 3352 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "ENST00000396578.8:c.3250G>T" ], "proteinEffect": { "hgvs": "ENSP00000379823.3:p.Glu1084Ter", "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.3250G>T" }, "RefSeq": { "hgvs": "NM_000091.5:c.3250G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379823.3:p.Glu1084Ter" }, "RefSeq": { "hgvs": "NP_000082.2:p.Glu1084Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 361, "referenceAllele": "G", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "ENST00000304990.8:c.361G>T" ], "proteinEffect": { "hgvs": "ENSP00000302781.8:p.Glu121Ter", "hgvsWellDefined": "ENSP00000302781.8:p.Glu121_Leu156delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProValProAlaAlaProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255540" }, { "coordinates": [ { "allele": "T", "end": 3412, "referenceAllele": "G", "start": 3411 } ], 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"ENSP00000379823.3:p.Glu1084_His1670delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277337" }, { "@id": "http://reg.genome.network/allele/PA658663683", "coordinates": [ { "allele": "T", "end": 3412, "referenceAllele": "G", "start": 3411 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "NM_000091.4:c.3250G>T", "LRG_230t1:c.3250G>T" ], "proteinEffect": { "hgvs": "NP_000082.2:p.Glu1084Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006155" }, { "coordinates": [ { "allele": "A", "end": 243, "endIntronDirection": "-", "endIntronOffset": 11440, "referenceAllele": "C", "start": 243, "startIntronDirection": "-", "startIntronOffset": 11441 } ], "gene": "http://reg.genome.network/gene/GN041067", "geneNCBI_id": 654841, "geneSymbol": "MFF-DT", "hgvs": [ "NR_102371.1:n.244-11441C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS052797" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "G", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246276.2:c.3250G>T" ], "proteinEffect": { "hgvs": "XP_005246333.1:p.Glu1084Ter", "hgvsWellDefined": "XP_005246333.1:p.Glu1084_Ile1637delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetLysAlaTyrSerIleAsnCysGluSerTrpGlyIleArgLysAsnAsnLysSerLeuSerGlyValHisGluGluLysThrLeuLysLeuLysLysThrAlaGluLeuLeuPhePheIleLeuLysAsnLysValMetThrGluHisAlaValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057548" }, { "coordinates": [ { "allele": "T", "end": 3283, "referenceAllele": "G", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246277.2:c.3145G>T" ], "proteinEffect": { "hgvs": "XP_005246334.1:p.Glu1049Ter", "hgvsWellDefined": "XP_005246334.1:p.Glu1049_His1635delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057549" }, { "coordinates": [ { "allele": "T", "end": 3311, "referenceAllele": "G", "start": 3310 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246280.2:c.*17G>T" ], "proteinEffect": { "hgvs": "XP_005246337.1:n.*17G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS057550" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "G", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_006712245.2:c.3250G>T" ], "proteinEffect": { "hgvs": "XP_006712308.1:p.Glu1084Ter", "hgvsWellDefined": "XP_006712308.1:p.Glu1084_Gly1189delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069540" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "G", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510555.1:c.3250G>T" ], "proteinEffect": { "hgvs": "XP_011508857.1:p.Glu1084Ter", "hgvsWellDefined": "XP_011508857.1:p.Glu1084_Phe1609delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetValLeuArgAlaProGlyLysHisTrpProProLeuAlaProAlaTrpLysAsnSerGluProAlaHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS077818" }, { "coordinates": [ { "allele": "T", "end": 2444, "referenceAllele": "G", "start": 2443 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510556.1:c.2011G>T" ], "proteinEffect": { "hgvs": "XP_011508858.1:p.Glu671Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS077819" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "G", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_241280.2:n.3388G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116013" }, { "coordinates": [ { "allele": "T", "end": 3283, "referenceAllele": "G", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246277.3:c.3145G>T" ], "proteinEffect": { "hgvs": "XP_005246334.1:p.Glu1049Ter", "hgvsWellDefined": "XP_005246334.1:p.Glu1049_His1635delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532574" }, { "coordinates": [ { "allele": "T", "end": 3311, "referenceAllele": "G", "start": 3310 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_005246280.3:c.*17G>T" ], "proteinEffect": { "hgvs": "XP_005246337.1:n.*17G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS532575" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "G", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_006712245.3:c.3250G>T" ], "proteinEffect": { "hgvs": "XP_006712308.1:p.Glu1084Ter", "hgvsWellDefined": "XP_006712308.1:p.Glu1084_Gly1189delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538213" }, { "coordinates": [ { "allele": "T", "end": 2444, "referenceAllele": "G", "start": 2443 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_011510556.2:c.2011G>T" ], "proteinEffect": { "hgvs": "XP_011508858.1:p.Glu671Ter", "hgvsWellDefined": "XP_011508858.1:p.Glu671_His1257delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541765" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "G", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XM_017003295.1:c.3250G>T" ], "proteinEffect": { "hgvs": "XP_016858784.1:p.Glu1084Ter", "hgvsWellDefined": "XP_016858784.1:p.Glu1084_Leu1119delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProValProAlaAlaProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559066" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "G", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_001738601.1:n.3388G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589090" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "G", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "XR_241280.3:n.3388G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605830" }, { "@id": "http://reg.genome.network/allele/PA658663683", "coordinates": [ { "allele": "T", "end": 3353, "referenceAllele": "G", "start": 3352 } ], "gene": "http://reg.genome.network/gene/GN002204", "geneNCBI_id": 1285, "geneSymbol": "COL4A3", "hgvs": [ "NM_000091.5:c.3250G>T" ], "proteinEffect": { "hgvs": "NP_000082.2:p.Glu1084Ter", "hgvsWellDefined": "NP_000082.2:p.Glu1084_His1670delinsMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674698", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396578.8:c.3250G>T" }, "RefSeq": { "hgvs": "NM_000091.5:c.3250G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379823.3:p.Glu1084Ter" }, "RefSeq": { "hgvs": "NP_000082.2:p.Glu1084Ter" } } } } ], "type": "nucleotide" }