{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350838763", "communityStandardTitle": [ "NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971749[alleleid]", "alleleId": 971749, "preferredName": "NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984047", "RCV": [ "RCV001264052" ], "variationId": 984047 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227912260T>A?assembly=hg19", "id": "chr2:g.227912260T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227047544T>A?assembly=hg38", "id": "chr2:g.227047544T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1973140216", "rs": 1973140216 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227047544, "referenceAllele": "T", "start": 227047543 } ], "hgvs": [ "NC_000002.12:g.227047544T>A", "CM000664.2:g.227047544T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227912260, "referenceAllele": "T", "start": 227912259 } ], "hgvs": [ "NC_000002.11:g.227912260T>A", "CM000664.1:g.227912260T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227620504, "referenceAllele": "T", "start": 227620503 } ], "hgvs": [ "NC_000002.10:g.227620504T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 122016, "referenceAllele": "A", "start": 122015 } ], "hgvs": [ "NG_011592.1:g.122016A>T", "LRG_231:g.122016A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001840" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3520, "referenceAllele": "A", "start": 3519 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.5:c.3220A>T" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277360" }, { "@id": "http://reg.genome.network/allele/PA1139697549", "coordinates": [ { "allele": "T", "end": 3874, "referenceAllele": "A", "start": 3873 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.4:c.3220A>T", "LRG_231t1:c.3220A>T" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006156" }, { "coordinates": [ { "allele": "T", "end": 3405, "referenceAllele": "A", "start": 3404 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057551" }, { "coordinates": [ { "allele": "T", "end": 2975, "referenceAllele": "A", "start": 2974 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.2:c.2665A>T" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Lys889Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057552" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "A", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069541" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "A", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712249.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_006712312.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069542" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "A", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712251.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_006712314.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069543" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "A", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712252.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_006712315.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069544" }, { "coordinates": [ { "allele": "T", "end": 3449, "referenceAllele": "A", "start": 3448 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.1:c.3139A>T" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Lys1047Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS077820" }, { "coordinates": [ { "allele": "T", "end": 3422, "referenceAllele": "A", "start": 3421 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.1:c.3112A>T" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Lys1038Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS077821" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "A", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510559.1:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_011508861.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS077822" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "A", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510560.1:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_011508862.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS077823" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "A", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510561.1:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_011508863.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS077825" }, { "coordinates": [ { "allele": "T", "end": 3530, "referenceAllele": "A", "start": 3529 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510563.1:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_011508865.1:p.Lys1074Ter", "hgvsWellDefined": 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"XP_005246339.1:p.Lys889_Ser1505delinsGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532577" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.3:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Lys1074Ter", "hgvsWellDefined": "XP_006712309.1:p.Lys1074_Ser1627delinsGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538214" }, { "coordinates": [ { "allele": "T", "end": 3465, "referenceAllele": "A", "start": 3464 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.2:c.3139A>T" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Lys1047Ter", "hgvsWellDefined": "XP_011508859.1:p.Lys1047_Ser1663delinsGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541766" }, { "coordinates": [ { "allele": "T", "end": 3438, "referenceAllele": "A", "start": 3437 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.2:c.3112A>T" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Lys1038Ter", "hgvsWellDefined": "XP_011508860.1:p.Lys1038_Ser1654delinsGlyAspProAlaSerHisPheGlyProProGlyProLysGlyGluProGlySerProGlyCysProGlyHisPheGlyAlaSerGlyGluGlnGlyLeuProGlyIleGlnGlyProArgGlySerProGlyArgProGlyProProGlySerSerGlyProProGlyCysProGlyAspHisGlyMetProGlyLeuArgGlyGlnProGlyGluMetGlyAspProGlyProArgGlyLeuGlnGlyAspProGlyIleProGlyProProGlyIleLysGlyProSerGlySerProGlyLeuAsnGlyLeuHisGlyLeuLysGlyGlnLysGlyThrLysGlyAlaSerGlyLeuHisAspValGlyProProGlyProValGlyIleProGlyLeuLysGlyGluArgGlyAspProGlySerProGlyIleSerProProGlyProArgGlyLysLysGlyProProGlyProProGlySerSerGlyProProGlyProAlaGlyAlaThrGlyArgAlaProLysAspIleProAspProGlyProProGlyAspGlnGlyProProGlyProAspGlyProArgGlyAlaProGlyProProGlyLeuProGlySerValAspLeuLeuArgGlyGluProGlyAspCysGlyLeuProGlyProProGlyProProGlyProProGlyProProGlyTyrLysGlyPheProGlyCysAspGlyLysAspGlyGlnLysGlyProValGlyPheProGlyProGlnGlyProHisGlyPheProGlyProProGlyGluLysGlyLeuProGlyProProGlyArgLysGlyProThrGlyLeuProGlyProArgGlyGluProGlyProProAlaAspValAspAspCysProArgIleProGlyLeuProGlyAlaProGlyMetArgGlyProGluGlyAlaMetGlyLeuProGlyMetArgGlyProSerGlyProGlyCysLysGlyGluProGlyLeuAspGlyArgArgGlyValAspGlyValProGlySerProGlyProProGlyArgLysGlyAspThrGlyGluAspGlyTyrProGlyGlyProGlyProProGlyProIleGlyAspProGlyProLysGlyPheGlyProGlyTyrLeuGlyGlyPheLeuLeuValLeuHisSerGlnThrAspGlnGluProThrCysProLeuGlyMetProArgLeuTrpThrGlyTyrSerLeuLeuTyrLeuGluGlyGlnGluLysAlaHisAsnGlnAspLeuGlyLeuAlaGlySerCysLeuProValPheSerThrLeuProPheAlaTyrCysAsnIleHisGlnValCysHisTyrAlaGlnArgAsnAspArgSerTyrTrpLeuAlaSerAlaAlaProLeuProMetMetProLeuSerGluGluAlaIleArgProTyrValSerArgCysAlaValCysGluAlaProAlaGlnAlaValAlaValHisSerGlnAspGlnSerIleProProCysProGlnThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541767" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510559.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_011508861.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS541768" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510560.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_011508862.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS541769" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510561.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_011508863.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS541770" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510562.2:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_011508864.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559070" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003300.1:c.3220A>T" ], "proteinEffect": { "hgvs": "XP_016858789.1:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559071" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738602.1:n.3546A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589091" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738603.1:n.3546A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589092" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738604.1:n.3546A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589093" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738606.1:n.3546A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589094" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738607.1:n.3546A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589095" }, { "coordinates": [ { "allele": "T", "end": 3546, "referenceAllele": "A", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922837.2:n.3546A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS607167" }, { "@id": "http://reg.genome.network/allele/PA1139697549", "coordinates": [ { "allele": "T", "end": 3520, "referenceAllele": "A", "start": 3519 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.5:c.3220A>T" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Lys1074Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.3220A>T" }, "RefSeq": { "hgvs": "NM_000092.5:c.3220A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Lys1074Ter" }, "RefSeq": { "hgvs": "NP_000083.3:p.Lys1074Ter" } } } } ], "type": "nucleotide" }