{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413854399", "communityStandardTitle": [ "NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=794269[alleleid]", "alleleId": 794269, "preferredName": "NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/805941", "RCV": [ "RCV000993763" ], "variationId": 805941 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.107930837C>T?assembly=hg19", "id": "chrX:g.107930837C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.108687607C>T?assembly=hg38", "id": "chrX:g.108687607C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1603323278", "rs": 1603323278 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 108687607, "referenceAllele": "C", "start": 108687606 } ], "hgvs": [ "NC_000023.11:g.108687607C>T", "CM000685.2:g.108687607C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 107930837, "referenceAllele": "C", "start": 107930836 } ], "hgvs": [ "NC_000023.10:g.107930837C>T", "CM000685.1:g.107930837C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 107817493, "referenceAllele": "C", "start": 107817492 } ], "hgvs": [ "NC_000023.9:g.107817493C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 252684, "referenceAllele": "C", "start": 252683 } ], "hgvs": [ "NG_011977.1:g.252684C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002082" }, { "coordinates": [ { "allele": "T", "end": 252684, "referenceAllele": "C", "start": 252683 } ], "hgvs": [ "NG_011977.2:g.252684C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673573" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4729, "referenceAllele": "C", "start": 4728 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.11:c.4441C>T" ], "proteinEffect": { "hgvs": "ENSP00000331902.7:p.Gln1481Ter", "hgvsWellDefined": "ENSP00000331902.7:p.Gln1481_Thr1691delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.4441C>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.4441C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gln1481Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gln1481Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4625, "referenceAllele": "C", "start": 4624 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.7:c.4423C>T" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gln1475Ter", "hgvsWellDefined": "ENSP00000354505.2:p.Gln1475_Thr1685delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749508" }, { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000510690.2:n.935C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS758216" }, { "coordinates": [ { "allele": "T", "end": 4685, "referenceAllele": "C", "start": 4684 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.10:c.4441C>T" ], "proteinEffect": { "hgvs": "ENSP00000331902.6:p.Gln1481Ter", "hgvsWellDefined": "ENSP00000331902.6:p.Gln1481_Thr1691delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258897" }, { "coordinates": [ { "allele": "T", "end": 4667, "referenceAllele": "C", "start": 4666 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.6:c.4423C>T" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Gln1475Ter", "hgvsWellDefined": "ENSP00000354505.2:p.Gln1475_Thr1685delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265564" }, { "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "C", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000515658.1:c.237C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344832" }, { "@id": "http://reg.genome.network/allele/PA2825200389", "coordinates": [ { "allele": "T", "end": 4705, "referenceAllele": "C", "start": 4704 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.4:c.4423C>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gln1475Ter", "hgvsWellDefined": "NP_000486.1:p.Gln1475_Thr1685delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006549" }, { "@id": "http://reg.genome.network/allele/PA916049308", "coordinates": [ { "allele": "T", "end": 4723, "referenceAllele": "C", "start": 4722 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.2:c.4441C>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gln1481Ter", "hgvsWellDefined": "NP_203699.1:p.Gln1481_Thr1691delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "T", "end": 4749, "referenceAllele": "C", "start": 4748 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.4432C>T" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Gln1478Ter", "hgvsWellDefined": "XP_005262127.1:p.Gln1478_Thr1688delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "T", "end": 4621, "referenceAllele": "C", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.4441C>T" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Gln1481Ter", "hgvsWellDefined": "XP_006724679.1:p.Gln1481_Thr1691delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "T", "end": 4379, "referenceAllele": "C", "start": 4378 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.4117C>T" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Gln1373Ter", "hgvsWellDefined": "XP_011529151.1:p.Gln1373_Thr1583delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.2014C>T" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Gln672Ter", "hgvsWellDefined": "XP_011529153.1:p.Gln672_Thr882delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "T", "end": 4471, "referenceAllele": "C", "start": 4470 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.4456C>T" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Gln1486Ter", "hgvsWellDefined": "XP_011529151.2:p.Gln1486_Thr1696delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "T", "end": 4462, "referenceAllele": "C", "start": 4461 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.4447C>T" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Gln1483Ter", "hgvsWellDefined": "XP_016884748.1:p.Gln1483_Thr1693delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "T", "end": 4453, "referenceAllele": "C", "start": 4452 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.4438C>T" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Gln1480Ter", "hgvsWellDefined": "XP_016884749.1:p.Gln1480_Thr1690delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "T", "end": 3555, "referenceAllele": "C", "start": 3554 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.2776C>T" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Gln926Ter", "hgvsWellDefined": "XP_016884752.1:p.Gln926_Thr1136delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825200389", "coordinates": [ { "allele": "T", "end": 4711, "referenceAllele": "C", "start": 4710 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.4423C>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gln1475Ter", "hgvsWellDefined": "NP_000486.1:p.Gln1475_Thr1685delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA916049308", "coordinates": [ { "allele": "T", "end": 4729, "referenceAllele": "C", "start": 4728 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.4441C>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gln1481Ter", "hgvsWellDefined": "NP_203699.1:p.Gln1481_Thr1691delinsCysProGlnGlyThrLeuGlnValTyrGluGlyPheSerLeuLeuTyrValGlnGlyAsnLysArgAlaHisGlyGlnAspLeuGlyThrAlaGlySerCysLeuArgArgPheSerThrMetProPheMetPheCysAsnIleAsnAsnValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProGluProMetProMetSerMetGlnProLeuLysGlyGlnSerIleGlnProPheIleSerArgCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.4441C>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.4441C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gln1481Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gln1481Ter" } } } } ], "type": "nucleotide" }