{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414132550", "communityStandardTitle": [ "NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1065709[alleleid]", "alleleId": 1065709, "preferredName": "NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1077056", "RCV": [ "RCV001391166" ], "variationId": 1077056 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.107938117G>A?assembly=hg19", "id": "chrX:g.107938117G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.108694887G>A?assembly=hg38", "id": "chrX:g.108694887G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2148001657", "rs": 2148001657 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 108694887, "referenceAllele": "G", "start": 108694886 } ], "hgvs": [ "NC_000023.11:g.108694887G>A", "CM000685.2:g.108694887G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 107938117, "referenceAllele": "G", "start": 107938116 } ], "hgvs": [ "NC_000023.10:g.107938117G>A", "CM000685.1:g.107938117G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 107824773, "referenceAllele": "G", "start": 107824772 } ], "hgvs": [ "NC_000023.9:g.107824773G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 259964, "referenceAllele": "G", "start": 259963 } ], "hgvs": [ "NG_011977.1:g.259964G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002082" }, { "coordinates": [ { "allele": "A", "end": 259964, "referenceAllele": "G", "start": 259963 } ], "hgvs": [ "NG_011977.2:g.259964G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673573" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5075, "referenceAllele": "G", "start": 5074 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.11:c.4787G>A" ], "proteinEffect": { "hgvs": "ENSP00000331902.7:p.Trp1596Ter", "hgvsWellDefined": "ENSP00000331902.7:p.Trp1596_Thr1691delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.4787G>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.4787G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Trp1596Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Trp1596Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 4971, "referenceAllele": "G", "start": 4970 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.7:c.4769G>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Trp1590Ter", "hgvsWellDefined": "ENSP00000354505.2:p.Trp1590_Thr1685delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749508" }, { "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000510690.2:n.1281G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS758216" }, { "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000644079.1:n.1273G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767623" }, { "coordinates": [ { "allele": "A", "end": 5031, "referenceAllele": "G", "start": 5030 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000328300.10:c.4787G>A" ], "proteinEffect": { "hgvs": "ENSP00000331902.6:p.Trp1596Ter", "hgvsWellDefined": "ENSP00000331902.6:p.Trp1596_Thr1691delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258897" }, { "coordinates": [ { "allele": "A", "end": 5013, "referenceAllele": "G", "start": 5012 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000361603.6:c.4769G>A" ], "proteinEffect": { "hgvs": "ENSP00000354505.2:p.Trp1590Ter", "hgvsWellDefined": "ENSP00000354505.2:p.Trp1590_Thr1685delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265564" }, { "coordinates": [ { "allele": "A", "end": 185, "referenceAllele": "G", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000504541.1:c.185G>A" ], "proteinEffect": { "hgvs": "ENSP00000424845.1:p.Trp62Ter", "hgvsWellDefined": "ENSP00000424845.1:p.Trp62_Met73delinsAspSerLeuTrpIleGlyTyrSerPheMetMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336572" }, { "coordinates": [ { "allele": "A", "end": 324, "endIntronDirection": "-", "endIntronOffset": 1409, "referenceAllele": "G", "start": 324, "startIntronDirection": "-", "startIntronOffset": 1410 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "ENST00000515658.1:c.325-1410G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344832" }, { "@id": "http://reg.genome.network/allele/PA2825200571", "coordinates": [ { "allele": "A", "end": 5051, "referenceAllele": "G", "start": 5050 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.4:c.4769G>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Trp1590Ter", "hgvsWellDefined": "NP_000486.1:p.Trp1590_Thr1685delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006549" }, { "@id": "http://reg.genome.network/allele/PA2499295030", "coordinates": [ { "allele": "A", "end": 5069, "referenceAllele": "G", "start": 5068 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.2:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Trp1596Ter", "hgvsWellDefined": "NP_203699.1:p.Trp1596_Thr1691delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039706" }, { "coordinates": [ { "allele": "A", "end": 5095, "referenceAllele": "G", "start": 5094 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_005262070.2:c.4778G>A" ], "proteinEffect": { "hgvs": "XP_005262127.1:p.Trp1593Ter", "hgvsWellDefined": "XP_005262127.1:p.Trp1593_Thr1688delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063311" }, { "coordinates": [ { "allele": "A", "end": 4967, "referenceAllele": "G", "start": 4966 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_006724616.2:c.4787G>A" ], "proteinEffect": { "hgvs": "XP_006724679.1:p.Trp1596Ter", "hgvsWellDefined": "XP_006724679.1:p.Trp1596_Thr1691delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075622" }, { "coordinates": [ { "allele": "A", "end": 4725, "referenceAllele": "G", "start": 4724 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.1:c.4463G>A" ], "proteinEffect": { "hgvs": "XP_011529151.1:p.Trp1488Ter", "hgvsWellDefined": "XP_011529151.1:p.Trp1488_Thr1583delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097892" }, { "coordinates": [ { "allele": "A", "end": 2472, "referenceAllele": "G", "start": 2471 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530851.1:c.2360G>A" ], "proteinEffect": { "hgvs": "XP_011529153.1:p.Trp787Ter", "hgvsWellDefined": "XP_011529153.1:p.Trp787_Thr882delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097894" }, { "coordinates": [ { "allele": "A", "end": 4817, "referenceAllele": "G", "start": 4816 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_011530849.2:c.4802G>A" ], "proteinEffect": { "hgvs": "XP_011529151.2:p.Trp1601Ter", "hgvsWellDefined": "XP_011529151.2:p.Trp1601_Thr1696delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550135" }, { "coordinates": [ { "allele": "A", "end": 4808, "referenceAllele": "G", "start": 4807 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029259.2:c.4793G>A" ], "proteinEffect": { "hgvs": "XP_016884748.1:p.Trp1598Ter", "hgvsWellDefined": "XP_016884748.1:p.Trp1598_Thr1693delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578835" }, { "coordinates": [ { "allele": "A", "end": 4799, "referenceAllele": "G", "start": 4798 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029260.1:c.4784G>A" ], "proteinEffect": { "hgvs": "XP_016884749.1:p.Trp1595Ter", "hgvsWellDefined": "XP_016884749.1:p.Trp1595_Thr1690delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578836" }, { "coordinates": [ { "allele": "A", "end": 3901, "referenceAllele": "G", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.3122G>A" ], "proteinEffect": { "hgvs": "XP_016884752.1:p.Trp1041Ter", "hgvsWellDefined": "XP_016884752.1:p.Trp1041_Thr1136delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "@id": "http://reg.genome.network/allele/PA2825200571", "coordinates": [ { "allele": "A", "end": 5057, "referenceAllele": "G", "start": 5056 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.4769G>A" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Trp1590Ter", "hgvsWellDefined": "NP_000486.1:p.Trp1590_Thr1685delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "@id": "http://reg.genome.network/allele/PA2499295030", "coordinates": [ { "allele": "A", "end": 5075, "referenceAllele": "G", "start": 5074 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.4787G>A" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Trp1596Ter", "hgvsWellDefined": "NP_203699.1:p.Trp1596_Thr1691delinsAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.4787G>A" }, "RefSeq": { "hgvs": "NM_033380.3:c.4787G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Trp1596Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Trp1596Ter" } } } } ], "type": "nucleotide" }