{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA251917", "communityStandardTitle": [ "NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16739[alleleid]", "alleleId": 16739, "preferredName": "NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1700", "RCV": [ "RCV000001768", "RCV001851561" ], "variationId": 1700 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.50708719C>T?assembly=hg19", "id": "chr10:g.50708719C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.49500673C>T?assembly=hg38", "id": "chr10:g.49500673C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121917900", "rs": 121917900 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 49500673, "referenceAllele": "C", "start": 49500672 } ], "hgvs": [ "NC_000010.11:g.49500673C>T", "CM000672.2:g.49500673C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 50708719, "referenceAllele": "C", "start": 50708718 } ], "hgvs": [ "NC_000010.10:g.50708719C>T", "CM000672.1:g.50708719C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 50378725, "referenceAllele": "C", "start": 50378724 } ], "hgvs": [ "NC_000010.9:g.50378725C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 43429, "referenceAllele": "G", "start": 43428 } ], "hgvs": [ "NG_009442.1:g.43429G>A", "LRG_465:g.43429G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001594" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1724, "referenceAllele": "G", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000355832.10:c.1550G>A" ], "proteinEffect": { "hgvs": "ENSP00000348089.5:p.Trp517Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748723", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355832.10:c.1550G>A" }, "RefSeq": { "hgvs": "NM_000124.4:c.1550G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348089.5:p.Trp517Ter" }, "RefSeq": { "hgvs": "NP_000115.1:p.Trp517Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000681632.1:n.1628G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS781238" }, { "coordinates": [ { "allele": "A", "end": 1630, "endIntronDirection": "+", "endIntronOffset": 5211, "referenceAllele": "G", "start": 1630, "startIntronDirection": "+", "startIntronOffset": 5210 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000681659.1:c.1526+5211G>A" ], "proteinEffect": { "hgvs": "ENSP00000505631.1:n.1526+5211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781265" }, { "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "G", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000355832.9:c.1550G>A" ], "proteinEffect": { "hgvs": "ENSP00000348089.5:p.Trp517Ter", "hgvsWellDefined": "ENSP00000348089.5:p.Trp517_Cys1493delinsLeuTrpGluLeuHisCysGlnGlnAlaGlyGlyIleLeuGlyAspGluMetGlyLeuGlyLysThrIleGlnIleIleAlaPheLeuAlaGlyLeuSerTyrSerLysIleArgThrArgGlySerAsnTyrArgPheGluGlyLeuGlyProThrValIleValCysProThrThrValMetHisGlnTrpValLysGluPheHisThrTrpTrpProProPheArgValAlaIleLeuHisGluThrGlySerTyrThrHisLysLysGluLysLeuIleArgAspValAlaHisCysHisGlyIleLeuIleThrSerTyrSerTyrIleArgLeuMetGlnAspAspIleSerArgTyrAspTrpHisTyrValIleLeuAspGluGlyHisLysIleArgAsnProAsnAlaAlaValThrLeuAlaCysLysGlnPheArgThrProHisArgIleIleLeuSerGlySerProMetGlnAsnAsnLeuArgGluLeuTrpSerLeuPheAspPheIlePheProGlyLysLeuGlyThrLeuProValPheMetGluGlnPheSerValProIleThrMetGlyGlyTyrSerAsnAlaSerProValGlnValLysThrAlaTyrLysCysAlaCysValLeuArgAspThrIleAsnProTyrLeuLeuArgArgMetLysSerAspValLysMetSerLeuSerLeuProAspLysAsnGluGlnValLeuPheCysArgLeuThrAspGluGlnHisLysValTyrGlnAsnPheValAspSerLysGluValTyrArgIleLeuAsnGlyGluMetGlnIlePheSerGlyLeuIleAlaLeuArgLysIleCysAsnHisProAspLeuPheSerGlyGlyProLysAsnLeuLysGlyLeuProAspAspGluLeuGluGluAspGlnPheGlyTyrTrpLysArgSerGlyLysMetIleValValGluSerLeuLeuLysIleTrpHisLysGlnGlyGlnArgValLeuLeuPheSerGlnSerArgGlnMetLeuAspIleLeuGluValPheLeuArgAlaGlnLysTyrThrTyrLeuLysMetAspGlyThrThrThrIleAlaSerArgGlnProLeuIleThrArgTyrAsnGluAspThrSerIlePheValPheLeuLeuThrThrArgValGlyGlyLeuGlyValAsnLeuThrGlyAlaAsnArgValValIleTyrAspProAspTrpAsnProSerThrAspThrGlnAlaArgGluArgAlaTrpArgIleGlyGlnLysLysGlnValThrValTyrArgLeuLeuThrAlaGlyThrIleGluGluLysIleTyrHisArgGlnIlePheLysGlnPheLeuThrAsnArgValLeuLysAspProLysGlnArgArgPhePheLysSerAsnAspLeuTyrGluLeuPheThrLeuThrSerProAspAlaSerGlnSerThrGluThrSerAlaIlePheAlaGlyThrGlySerAspValGlnThrProLysCysHisLeuLysArgArgIleGlnProAlaPheGlyAlaAspHisAspValProLysArgLysLysPheProAlaSerAsnIleSerValAsnAspAlaThrSerSerGluGluLysSerGluAlaLysGlyAlaGluValAsnAlaValThrSerAsnArgSerAspProLeuLysAspAspProHisMetSerSerAsnValThrSerAsnAspArgLeuGlyGluGluThrAsnAlaValSerGlyProGluGluLeuSerValIleSerGlyAsnGlyGluCysSerAsnSerSerGlyThrGlyLysThrSerMetProSerGlyAspGluSerIleAspGluLysLeuGlyLeuSerTyrLysArgGluArgProSerGlnAlaGlnThrGluAlaPheTrpGluAsnLysGlnMetGluAsnAsnPheTyrLysHisLysSerLysThrLysHisHisSerValAlaGluGluGluThrLeuGluLysHisLeuArgProLysGlnLysProLysAsnSerLysHisCysArgAspAlaLysPheGluGlyThrArgIleProHisLeuValLysLysArgArgTyrGlnLysGlnAspSerGluAsnLysSerGluAlaLysGluGlnSerAsnAspAspTyrValLeuGluLysLeuPheLysLysSerValGlyValHisSerValMetLysHisAspAlaIleMetAspGlyAlaSerProAspTyrValLeuValGluAlaGluAlaAsnArgValAlaGlnAspAlaLeuLysAlaLeuArgLeuSerArgGlnArgCysLeuGlyAlaValSerGlyValProThrTrpThrGlyHisArgGlyIleSerGlyAlaProAlaGlyLysLysSerArgPheGlyLysLysArgAsnSerAsnPheSerValGlnHisProSerSerThrSerProThrGluLysCysGlnAspGlyIleMetLysLysGluGlyLysAspAsnValProGluHisPheSerGlyArgAlaGluAspAlaAspSerSerSerGlyProLeuAlaSerSerSerLeuLeuAlaLysMetArgAlaArgAsnHisLeuIleLeuProGluArgLeuGluSerGluSerGlyHisLeuGlnGluAlaSerAlaLeuLeuProThrThrGluHisAspAspLeuLeuValGluMetArgAsnPheIleAlaPheGlnAlaHisThrAspGlyGlnAlaSerThrArgGluIleLeuGlnGluPheGluSerLysLeuSerAlaSerGlnSerCysValPheArgGluLeuLeuArgAsnLeuCysThrPheHisArgThrSerGlyGlyGluGlyIleTrpLysLeuLysProGluTyrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263566" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000475116.1:n.140G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316468" }, { "coordinates": [ { "allele": "A", "end": 5808, "referenceAllele": "G", "start": 5807 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000623073.3:c.-50G>A" ], "proteinEffect": { "hgvs": "ENSP00000485650.1:n.-50G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405990" }, { "coordinates": [ { "allele": "A", "end": 109, "referenceAllele": "G", "start": 108 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000623115.3:c.-205G>A" ], "proteinEffect": { "hgvs": "ENSP00000485321.1:n.-205G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405998" }, { "coordinates": [ { "allele": "A", "end": 144, "referenceAllele": "G", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000623318.1:c.-50G>A" ], "proteinEffect": { "hgvs": "ENSP00000485423.1:n.-50G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS406048" }, { "coordinates": [ { "allele": "A", "end": 549, "referenceAllele": "G", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "ENST00000623788.1:n.549G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS406168" }, { "@id": "http://reg.genome.network/allele/PA251919", "coordinates": [ { "allele": "A", "end": 1726, "referenceAllele": "G", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "NM_000124.3:c.1550G>A" ], "proteinEffect": { "hgvs": "NP_000115.1:p.Trp517Ter", "hgvsWellDefined": "NP_000115.1:p.Trp517_Cys1493delinsLeuTrpGluLeuHisCysGlnGlnAlaGlyGlyIleLeuGlyAspGluMetGlyLeuGlyLysThrIleGlnIleIleAlaPheLeuAlaGlyLeuSerTyrSerLysIleArgThrArgGlySerAsnTyrArgPheGluGlyLeuGlyProThrValIleValCysProThrThrValMetHisGlnTrpValLysGluPheHisThrTrpTrpProProPheArgValAlaIleLeuHisGluThrGlySerTyrThrHisLysLysGluLysLeuIleArgAspValAlaHisCysHisGlyIleLeuIleThrSerTyrSerTyrIleArgLeuMetGlnAspAspIleSerArgTyrAspTrpHisTyrValIleLeuAspGluGlyHisLysIleArgAsnProAsnAlaAlaValThrLeuAlaCysLysGlnPheArgThrProHisArgIleIleLeuSerGlySerProMetGlnAsnAsnLeuArgGluLeuTrpSerLeuPheAspPheIlePheProGlyLysLeuGlyThrLeuProValPheMetGluGlnPheSerValProIleThrMetGlyGlyTyrSerAsnAlaSerProValGlnValLysThrAlaTyrLysCysAlaCysValLeuArgAspThrIleAsnProTyrLeuLeuArgArgMetLysSerAspValLysMetSerLeuSerLeuProAspLysAsnGluGlnValLeuPheCysArgLeuThrAspGluGlnHisLysValTyrGlnAsnPheValAspSerLysGluValTyrArgIleLeuAsnGlyGluMetGlnIlePheSerGlyLeuIleAlaLeuArgLysIleCysAsnHisProAspLeuPheSerGlyGlyProLysAsnLeuLysGlyLeuProAspAspGluLeuGluGluAspGlnPheGlyTyrTrpLysArgSerGlyLysMetIleValValGluSerLeuLeuLysIleTrpHisLysGlnGlyGlnArgValLeuLeuPheSerGlnSerArgGlnMetLeuAspIleLeuGluValPheLeuArgAlaGlnLysTyrThrTyrLeuLysMetAspGlyThrThrThrIleAlaSerArgGlnProLeuIleThrArgTyrAsnGluAspThrSerIlePheValPheLeuLeuThrThrArgValGlyGlyLeuGlyValAsnLeuThrGlyAlaAsnArgValValIleTyrAspProAspTrpAsnProSerThrAspThrGlnAlaArgGluArgAlaTrpArgIleGlyGlnLysLysGlnValThrValTyrArgLeuLeuThrAlaGlyThrIleGluGluLysIleTyrHisArgGlnIlePheLysGlnPheLeuThrAsnArgValLeuLysAspProLysGlnArgArgPhePheLysSerAsnAspLeuTyrGluLeuPheThrLeuThrSerProAspAlaSerGlnSerThrGluThrSerAlaIlePheAlaGlyThrGlySerAspValGlnThrProLysCysHisLeuLysArgArgIleGlnProAlaPheGlyAlaAspHisAspValProLysArgLysLysPheProAlaSerAsnIleSerValAsnAspAlaThrSerSerGluGluLysSerGluAlaLysGlyAlaGluValAsnAlaValThrSerAsnArgSerAspProLeuLysAspAspProHisMetSerSerAsnValThrSerAsnAspArgLeuGlyGluGluThrAsnAlaValSerGlyProGluGluLeuSerValIleSerGlyAsnGlyGluCysSerAsnSerSerGlyThrGlyLysThrSerMetProSerGlyAspGluSerIleAspGluLysLeuGlyLeuSerTyrLysArgGluArgProSerGlnAlaGlnThrGluAlaPheTrpGluAsnLysGlnMetGluAsnAsnPheTyrLysHisLysSerLysThrLysHisHisSerValAlaGluGluGluThrLeuGluLysHisLeuArgProLysGlnLysProLysAsnSerLysHisCysArgAspAlaLysPheGluGlyThrArgIleProHisLeuValLysLysArgArgTyrGlnLysGlnAspSerGluAsnLysSerGluAlaLysGluGlnSerAsnAspAspTyrValLeuGluLysLeuPheLysLysSerValGlyValHisSerValMetLysHisAspAlaIleMetAspGlyAlaSerProAspTyrValLeuValGluAlaGluAlaAsnArgValAlaGlnAspAlaLeuLysAlaLeuArgLeuSerArgGlnArgCysLeuGlyAlaValSerGlyValProThrTrpThrGlyHisArgGlyIleSerGlyAlaProAlaGlyLysLysSerArgPheGlyLysLysArgAsnSerAsnPheSerValGlnHisProSerSerThrSerProThrGluLysCysGlnAspGlyIleMetLysLysGluGlyLysAspAsnValProGluHisPheSerGlyArgAlaGluAspAlaAspSerSerSerGlyProLeuAlaSerSerSerLeuLeuAlaLysMetArgAlaArgAsnHisLeuIleLeuProGluArgLeuGluSerGluSerGlyHisLeuGlnGluAlaSerAlaLeuLeuProThrThrGluHisAspAspLeuLeuValGluMetArgAsnPheIleAlaPheGlnAlaHisThrAspGlyGlnAlaSerThrArgGluIleLeuGlnGluPheGluSerLysLeuSerAlaSerGlnSerCysValPheArgGluLeuLeuArgAsnLeuCysThrPheHisArgThrSerGlyGlyGluGlyIleTrpLysLeuLysProGluTyrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006186" }, { "@id": "http://reg.genome.network/allele/PA916028841", "coordinates": [ { "allele": "A", "end": 1722, "referenceAllele": "G", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "NM_001346440.1:c.1550G>A" ], "proteinEffect": { "hgvs": "NP_001333369.1:p.Trp517Ter", "hgvsWellDefined": "NP_001333369.1:p.Trp517_Cys1493delinsLeuTrpGluLeuHisCysGlnGlnAlaGlyGlyIleLeuGlyAspGluMetGlyLeuGlyLysThrIleGlnIleIleAlaPheLeuAlaGlyLeuSerTyrSerLysIleArgThrArgGlySerAsnTyrArgPheGluGlyLeuGlyProThrValIleValCysProThrThrValMetHisGlnTrpValLysGluPheHisThrTrpTrpProProPheArgValAlaIleLeuHisGluThrGlySerTyrThrHisLysLysGluLysLeuIleArgAspValAlaHisCysHisGlyIleLeuIleThrSerTyrSerTyrIleArgLeuMetGlnAspAspIleSerArgTyrAspTrpHisTyrValIleLeuAspGluGlyHisLysIleArgAsnProAsnAlaAlaValThrLeuAlaCysLysGlnPheArgThrProHisArgIleIleLeuSerGlySerProMetGlnAsnAsnLeuArgGluLeuTrpSerLeuPheAspPheIlePheProGlyLysLeuGlyThrLeuProValPheMetGluGlnPheSerValProIleThrMetGlyGlyTyrSerAsnAlaSerProValGlnValLysThrAlaTyrLysCysAlaCysValLeuArgAspThrIleAsnProTyrLeuLeuArgArgMetLysSerAspValLysMetSerLeuSerLeuProAspLysAsnGluGlnValLeuPheCysArgLeuThrAspGluGlnHisLysValTyrGlnAsnPheValAspSerLysGluValTyrArgIleLeuAsnGlyGluMetGlnIlePheSerGlyLeuIleAlaLeuArgLysIleCysAsnHisProAspLeuPheSerGlyGlyProLysAsnLeuLysGlyLeuProAspAspGluLeuGluGluAspGlnPheGlyTyrTrpLysArgSerGlyLysMetIleValValGluSerLeuLeuLysIleTrpHisLysGlnGlyGlnArgValLeuLeuPheSerGlnSerArgGlnMetLeuAspIleLeuGluValPheLeuArgAlaGlnLysTyrThrTyrLeuLysMetAspGlyThrThrThrIleAlaSerArgGlnProLeuIleThrArgTyrAsnGluAspThrSerIlePheValPheLeuLeuThrThrArgValGlyGlyLeuGlyValAsnLeuThrGlyAlaAsnArgValValIleTyrAspProAspTrpAsnProSerThrAspThrGlnAlaArgGluArgAlaTrpArgIleGlyGlnLysLysGlnValThrValTyrArgLeuLeuThrAlaGlyThrIleGluGluLysIleTyrHisArgGlnIlePheLysGlnPheLeuThrAsnArgValLeuLysAspProLysGlnArgArgPhePheLysSerAsnAspLeuTyrGluLeuPheThrLeuThrSerProAspAlaSerGlnSerThrGluThrSerAlaIlePheAlaGlyThrGlySerAspValGlnThrProLysCysHisLeuLysArgArgIleGlnProAlaPheGlyAlaAspHisAspValProLysArgLysLysPheProAlaSerAsnIleSerValAsnAspAlaThrSerSerGluGluLysSerGluAlaLysGlyAlaGluValAsnAlaValThrSerAsnArgSerAspProLeuLysAspAspProHisMetSerSerAsnValThrSerAsnAspArgLeuGlyGluGluThrAsnAlaValSerGlyProGluGluLeuSerValIleSerGlyAsnGlyGluCysSerAsnSerSerGlyThrGlyLysThrSerMetProSerGlyAspGluSerIleAspGluLysLeuGlyLeuSerTyrLysArgGluArgProSerGlnAlaGlnThrGluAlaPheTrpGluAsnLysGlnMetGluAsnAsnPheTyrLysHisLysSerLysThrLysHisHisSerValAlaGluGluGluThrLeuGluLysHisLeuArgProLysGlnLysProLysAsnSerLysHisCysArgAspAlaLysPheGluGlyThrArgIleProHisLeuValLysLysArgArgTyrGlnLysGlnAspSerGluAsnLysSerGluAlaLysGluGlnSerAsnAspAspTyrValLeuGluLysLeuPheLysLysSerValGlyValHisSerValMetLysHisAspAlaIleMetAspGlyAlaSerProAspTyrValLeuValGluAlaGluAlaAsnArgValAlaGlnAspAlaLeuLysAlaLeuArgLeuSerArgGlnArgCysLeuGlyAlaValSerGlyValProThrTrpThrGlyHisArgGlyIleSerGlyAlaProAlaGlyLysLysSerArgPheGlyLysLysArgAsnSerAsnPheSerValGlnHisProSerSerThrSerProThrGluLysCysGlnAspGlyIleMetLysLysGluGlyLysAspAsnValProGluHisPheSerGlyArgAlaGluAspAlaAspSerSerSerGlyProLeuAlaSerSerSerLeuLeuAlaLysMetArgAlaArgAsnHisLeuIleLeuProGluArgLeuGluSerGluSerGlyHisLeuGlnGluAlaSerAlaLeuLeuProThrThrGluHisAspAspLeuLeuValGluMetArgAsnPheIleAlaPheGlnAlaHisThrAspGlyGlnAlaSerThrArgGluIleLeuGlnGluPheGluSerLysLeuSerAlaSerGlnSerCysValPheArgGluLeuLeuArgAsnLeuCysThrPheHisArgThrSerGlyGlyGluGlyIleTrpLysLeuLysProGluTyrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517542" }, { "@id": "http://reg.genome.network/allele/PA251919", "coordinates": [ { "allele": "A", "end": 1724, "referenceAllele": "G", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "NM_000124.4:c.1550G>A" ], "proteinEffect": { "hgvs": "NP_000115.1:p.Trp517Ter", "hgvsWellDefined": "NP_000115.1:p.Trp517_Cys1493delinsLeuTrpGluLeuHisCysGlnGlnAlaGlyGlyIleLeuGlyAspGluMetGlyLeuGlyLysThrIleGlnIleIleAlaPheLeuAlaGlyLeuSerTyrSerLysIleArgThrArgGlySerAsnTyrArgPheGluGlyLeuGlyProThrValIleValCysProThrThrValMetHisGlnTrpValLysGluPheHisThrTrpTrpProProPheArgValAlaIleLeuHisGluThrGlySerTyrThrHisLysLysGluLysLeuIleArgAspValAlaHisCysHisGlyIleLeuIleThrSerTyrSerTyrIleArgLeuMetGlnAspAspIleSerArgTyrAspTrpHisTyrValIleLeuAspGluGlyHisLysIleArgAsnProAsnAlaAlaValThrLeuAlaCysLysGlnPheArgThrProHisArgIleIleLeuSerGlySerProMetGlnAsnAsnLeuArgGluLeuTrpSerLeuPheAspPheIlePheProGlyLysLeuGlyThrLeuProValPheMetGluGlnPheSerValProIleThrMetGlyGlyTyrSerAsnAlaSerProValGlnValLysThrAlaTyrLysCysAlaCysValLeuArgAspThrIleAsnProTyrLeuLeuArgArgMetLysSerAspValLysMetSerLeuSerLeuProAspLysAsnGluGlnValLeuPheCysArgLeuThrAspGluGlnHisLysValTyrGlnAsnPheValAspSerLysGluValTyrArgIleLeuAsnGlyGluMetGlnIlePheSerGlyLeuIleAlaLeuArgLysIleCysAsnHisProAspLeuPheSerGlyGlyProLysAsnLeuLysGlyLeuProAspAspGluLeuGluGluAspGlnPheGlyTyrTrpLysArgSerGlyLysMetIleValValGluSerLeuLeuLysIleTrpHisLysGlnGlyGlnArgValLeuLeuPheSerGlnSerArgGlnMetLeuAspIleLeuGluValPheLeuArgAlaGlnLysTyrThrTyrLeuLysMetAspGlyThrThrThrIleAlaSerArgGlnProLeuIleThrArgTyrAsnGluAspThrSerIlePheValPheLeuLeuThrThrArgValGlyGlyLeuGlyValAsnLeuThrGlyAlaAsnArgValValIleTyrAspProAspTrpAsnProSerThrAspThrGlnAlaArgGluArgAlaTrpArgIleGlyGlnLysLysGlnValThrValTyrArgLeuLeuThrAlaGlyThrIleGluGluLysIleTyrHisArgGlnIlePheLysGlnPheLeuThrAsnArgValLeuLysAspProLysGlnArgArgPhePheLysSerAsnAspLeuTyrGluLeuPheThrLeuThrSerProAspAlaSerGlnSerThrGluThrSerAlaIlePheAlaGlyThrGlySerAspValGlnThrProLysCysHisLeuLysArgArgIleGlnProAlaPheGlyAlaAspHisAspValProLysArgLysLysPheProAlaSerAsnIleSerValAsnAspAlaThrSerSerGluGluLysSerGluAlaLysGlyAlaGluValAsnAlaValThrSerAsnArgSerAspProLeuLysAspAspProHisMetSerSerAsnValThrSerAsnAspArgLeuGlyGluGluThrAsnAlaValSerGlyProGluGluLeuSerValIleSerGlyAsnGlyGluCysSerAsnSerSerGlyThrGlyLysThrSerMetProSerGlyAspGluSerIleAspGluLysLeuGlyLeuSerTyrLysArgGluArgProSerGlnAlaGlnThrGluAlaPheTrpGluAsnLysGlnMetGluAsnAsnPheTyrLysHisLysSerLysThrLysHisHisSerValAlaGluGluGluThrLeuGluLysHisLeuArgProLysGlnLysProLysAsnSerLysHisCysArgAspAlaLysPheGluGlyThrArgIleProHisLeuValLysLysArgArgTyrGlnLysGlnAspSerGluAsnLysSerGluAlaLysGluGlnSerAsnAspAspTyrValLeuGluLysLeuPheLysLysSerValGlyValHisSerValMetLysHisAspAlaIleMetAspGlyAlaSerProAspTyrValLeuValGluAlaGluAlaAsnArgValAlaGlnAspAlaLeuLysAlaLeuArgLeuSerArgGlnArgCysLeuGlyAlaValSerGlyValProThrTrpThrGlyHisArgGlyIleSerGlyAlaProAlaGlyLysLysSerArgPheGlyLysLysArgAsnSerAsnPheSerValGlnHisProSerSerThrSerProThrGluLysCysGlnAspGlyIleMetLysLysGluGlyLysAspAsnValProGluHisPheSerGlyArgAlaGluAspAlaAspSerSerSerGlyProLeuAlaSerSerSerLeuLeuAlaLysMetArgAlaArgAsnHisLeuIleLeuProGluArgLeuGluSerGluSerGlyHisLeuGlnGluAlaSerAlaLeuLeuProThrThrGluHisAspAspLeuLeuValGluMetArgAsnPheIleAlaPheGlnAlaHisThrAspGlyGlnAlaSerThrArgGluIleLeuGlnGluPheGluSerLysLeuSerAlaSerGlnSerCysValPheArgGluLeuLeuArgAsnLeuCysThrPheHisArgThrSerGlyGlyGluGlyIleTrpLysLeuLysProGluTyrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662322", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355832.10:c.1550G>A" }, "RefSeq": { "hgvs": "NM_000124.4:c.1550G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348089.5:p.Trp517Ter" }, "RefSeq": { "hgvs": "NP_000115.1:p.Trp517Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916028841", "coordinates": [ { "allele": "A", "end": 1720, "referenceAllele": "G", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN003438", "geneNCBI_id": 2074, "geneSymbol": "ERCC6", "hgvs": [ "NM_001346440.2:c.1550G>A" ], "proteinEffect": { "hgvs": "NP_001333369.1:p.Trp517Ter", "hgvsWellDefined": "NP_001333369.1:p.Trp517_Cys1493delinsLeuTrpGluLeuHisCysGlnGlnAlaGlyGlyIleLeuGlyAspGluMetGlyLeuGlyLysThrIleGlnIleIleAlaPheLeuAlaGlyLeuSerTyrSerLysIleArgThrArgGlySerAsnTyrArgPheGluGlyLeuGlyProThrValIleValCysProThrThrValMetHisGlnTrpValLysGluPheHisThrTrpTrpProProPheArgValAlaIleLeuHisGluThrGlySerTyrThrHisLysLysGluLysLeuIleArgAspValAlaHisCysHisGlyIleLeuIleThrSerTyrSerTyrIleArgLeuMetGlnAspAspIleSerArgTyrAspTrpHisTyrValIleLeuAspGluGlyHisLysIleArgAsnProAsnAlaAlaValThrLeuAlaCysLysGlnPheArgThrProHisArgIleIleLeuSerGlySerProMetGlnAsnAsnLeuArgGluLeuTrpSerLeuPheAspPheIlePheProGlyLysLeuGlyThrLeuProValPheMetGluGlnPheSerValProIleThrMetGlyGlyTyrSerAsnAlaSerProValGlnValLysThrAlaTyrLysCysAlaCysValLeuArgAspThrIleAsnProTyrLeuLeuArgArgMetLysSerAspValLysMetSerLeuSerLeuProAspLysAsnGluGlnValLeuPheCysArgLeuThrAspGluGlnHisLysValTyrGlnAsnPheValAspSerLysGluValTyrArgIleLeuAsnGlyGluMetGlnIlePheSerGlyLeuIleAlaLeuArgLysIleCysAsnHisProAspLeuPheSerGlyGlyProLysAsnLeuLysGlyLeuProAspAspGluLeuGluGluAspGlnPheGlyTyrTrpLysArgSerGlyLysMetIleValValGluSerLeuLeuLysIleTrpHisLysGlnGlyGlnArgValLeuLeuPheSerGlnSerArgGlnMetLeuAspIleLeuGluValPheLeuArgAlaGlnLysTyrThrTyrLeuLysMetAspGlyThrThrThrIleAlaSerArgGlnProLeuIleThrArgTyrAsnGluAspThrSerIlePheValPheLeuLeuThrThrArgValGlyGlyLeuGlyValAsnLeuThrGlyAlaAsnArgValValIleTyrAspProAspTrpAsnProSerThrAspThrGlnAlaArgGluArgAlaTrpArgIleGlyGlnLysLysGlnValThrValTyrArgLeuLeuThrAlaGlyThrIleGluGluLysIleTyrHisArgGlnIlePheLysGlnPheLeuThrAsnArgValLeuLysAspProLysGlnArgArgPhePheLysSerAsnAspLeuTyrGluLeuPheThrLeuThrSerProAspAlaSerGlnSerThrGluThrSerAlaIlePheAlaGlyThrGlySerAspValGlnThrProLysCysHisLeuLysArgArgIleGlnProAlaPheGlyAlaAspHisAspValProLysArgLysLysPheProAlaSerAsnIleSerValAsnAspAlaThrSerSerGluGluLysSerGluAlaLysGlyAlaGluValAsnAlaValThrSerAsnArgSerAspProLeuLysAspAspProHisMetSerSerAsnValThrSerAsnAspArgLeuGlyGluGluThrAsnAlaValSerGlyProGluGluLeuSerValIleSerGlyAsnGlyGluCysSerAsnSerSerGlyThrGlyLysThrSerMetProSerGlyAspGluSerIleAspGluLysLeuGlyLeuSerTyrLysArgGluArgProSerGlnAlaGlnThrGluAlaPheTrpGluAsnLysGlnMetGluAsnAsnPheTyrLysHisLysSerLysThrLysHisHisSerValAlaGluGluGluThrLeuGluLysHisLeuArgProLysGlnLysProLysAsnSerLysHisCysArgAspAlaLysPheGluGlyThrArgIleProHisLeuValLysLysArgArgTyrGlnLysGlnAspSerGluAsnLysSerGluAlaLysGluGlnSerAsnAspAspTyrValLeuGluLysLeuPheLysLysSerValGlyValHisSerValMetLysHisAspAlaIleMetAspGlyAlaSerProAspTyrValLeuValGluAlaGluAlaAsnArgValAlaGlnAspAlaLeuLysAlaLeuArgLeuSerArgGlnArgCysLeuGlyAlaValSerGlyValProThrTrpThrGlyHisArgGlyIleSerGlyAlaProAlaGlyLysLysSerArgPheGlyLysLysArgAsnSerAsnPheSerValGlnHisProSerSerThrSerProThrGluLysCysGlnAspGlyIleMetLysLysGluGlyLysAspAsnValProGluHisPheSerGlyArgAlaGluAspAlaAspSerSerSerGlyProLeuAlaSerSerSerLeuLeuAlaLysMetArgAlaArgAsnHisLeuIleLeuProGluArgLeuGluSerGluSerGlyHisLeuGlnGluAlaSerAlaLeuLeuProThrThrGluHisAspAspLeuLeuValGluMetArgAsnPheIleAlaPheGlnAlaHisThrAspGlyGlnAlaSerThrArgGluIleLeuGlnGluPheGluSerLysLeuSerAlaSerGlnSerCysValPheArgGluLeuLeuArgAsnLeuCysThrPheHisArgThrSerGlyGlyGluGlyIleTrpLysLeuLysProGluTyrCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718939" } ], "type": "nucleotide" }