{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA090899", "communityStandardTitle": [ "NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259693[alleleid]", "alleleId": 259693, "preferredName": "NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265515", "RCV": [ "RCV000255849", "RCV000986812", "RCV001175535", "RCV002487171" ], "variationId": 265515 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-128050332-G-A", "id": "2-128050332-G-A", "variant": "2:128050332 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.128050332G>A?assembly=hg19", "id": "chr2:g.128050332G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.127292756G>A?assembly=hg38", "id": "chr2:g.127292756G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/34295337", "rs": 34295337 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-128050332-G-A?dataset=gnomad_r2_1", "id": "2-128050332-G-A", "variant": "2:128050332 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-127292756-G-A?dataset=gnomad_r3", "id": "2-127292756-G-A", "variant": "2:127292756 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-127292756-G-A?dataset=gnomad_r4", "id": "2-127292756-G-A", "variant": "2:127292756 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 127292756, "referenceAllele": "G", "start": 127292755 } ], "hgvs": [ "NC_000002.12:g.127292756G>A", "CM000664.2:g.127292756G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 128050332, "referenceAllele": "G", "start": 128050331 } ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS743811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285398.7:c.325C>T" }, "RefSeq": { "hgvs": "NM_000122.2:c.325C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285398.2:p.Arg109Ter" }, "RefSeq": { "hgvs": "NP_000113.1:p.Arg109Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000642308.1:c.325C>T" ], "proteinEffect": { "hgvs": "ENSP00000496684.1:p.Arg109Ter", "hgvsWellDefined": "ENSP00000496684.1:p.Arg109_Ser161delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysAlaSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766672" }, { "coordinates": [ { "allele": "T", "end": 251, "endIntronDirection": "-", "endIntronOffset": 51, "referenceAllele": "C", "start": 251, "startIntronDirection": "-", "startIntronOffset": 52 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000644317.1:c.235-52C>T" ], "proteinEffect": { "hgvs": "ENSP00000494012.1:n.235-52C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767757" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000645233.1:c.325C>T" ], "proteinEffect": { "hgvs": "ENSP00000494116.1:p.Arg109Ter", "hgvsWellDefined": "ENSP00000494116.1:p.Arg109_Ser161delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysAlaSerAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768234" }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000645467.1:c.325C>T" ], "proteinEffect": { "hgvs": "ENSP00000494889.1:p.Arg109Ter", "hgvsWellDefined": "ENSP00000494889.1:p.Arg109_Val448delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768368" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "C", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000645736.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000494545.1:p.Arg61Ter", "hgvsWellDefined": "ENSP00000494545.1:p.Arg61_Ser406delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProGlyLeuValProTyrValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768521" }, { "coordinates": [ { "allele": "T", "end": 389, "referenceAllele": "C", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000646654.1:c.325C>T" ], "proteinEffect": { "hgvs": "ENSP00000494526.1:p.Arg109Ter", "hgvsWellDefined": "ENSP00000494526.1:p.Arg109_Arg160delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysIleLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768994" }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000647169.1:c.325C>T" ], "proteinEffect": { "hgvs": "ENSP00000495619.1:p.Arg109Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769274" }, { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000285398.6:c.325C>T" ], "proteinEffect": { "hgvs": "ENSP00000285398.2:p.Arg109Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000462306.5:n.291-52C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306597" }, { "coordinates": [ { "allele": "T", "end": 306, "endIntronDirection": "-", "endIntronOffset": 51, "referenceAllele": "C", "start": 306, "startIntronDirection": "-", "startIntronOffset": 52 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000490062.1:n.307-52C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS327980" }, { "coordinates": [ { "allele": "T", "end": 260, "endIntronDirection": "-", "endIntronOffset": 51, "referenceAllele": "C", "start": 260, "startIntronDirection": "-", "startIntronOffset": 52 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "ENST00000494464.5:n.261-52C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331386" }, { "@id": "http://reg.genome.network/allele/PA645450085", "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.1:c.325C>T", "LRG_462t1:c.325C>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Arg109Ter", "hgvsWellDefined": "NP_000113.1:p.Arg109_Lys782delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006184" }, { "@id": "http://reg.genome.network/allele/PA2826882307", "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.1:c.133C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Arg45Ter", "hgvsWellDefined": "NP_001290345.1:p.Arg45_Lys718delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025508" }, { "@id": "http://reg.genome.network/allele/PA916019542", "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "C", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.1:c.133C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Arg45Ter", "hgvsWellDefined": "NP_001290347.1:p.Arg45_Lys718delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025509" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.1:c.325C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Arg109Ter", "hgvsWellDefined": "XP_011509096.1:p.Arg109_Lys788delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaHisLeuProLeuSerGlnIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078055" }, { "coordinates": [ { "allele": "T", "end": 306, "endIntronDirection": "-", "endIntronOffset": 51, "referenceAllele": "C", "start": 306, "startIntronDirection": "-", "startIntronOffset": 52 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510795.1:c.-80-52C>T" ], "proteinEffect": { "hgvs": "XP_011509097.1:n.-80-52C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS078056" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_011510794.2:c.325C>T" ], "proteinEffect": { "hgvs": "XP_011509096.1:p.Arg109Ter", "hgvsWellDefined": "XP_011509096.1:p.Arg109_Lys788delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaHisLeuProLeuSerGlnIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541884" }, { "coordinates": [ { "allele": "T", "end": 306, "endIntronDirection": "-", "endIntronOffset": 51, "referenceAllele": "C", "start": 306, "startIntronDirection": "-", "startIntronOffset": 52 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "XM_017003583.1:c.-80-52C>T" ], "proteinEffect": { "hgvs": "XP_016859072.1:n.-80-52C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS559280" }, { "@id": "http://reg.genome.network/allele/PA645450085", "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_000122.2:c.325C>T" ], "proteinEffect": { "hgvs": "NP_000113.1:p.Arg109Ter", "hgvsWellDefined": "NP_000113.1:p.Arg109_Lys782delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285398.7:c.325C>T" }, "RefSeq": { "hgvs": "NM_000122.2:c.325C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285398.2:p.Arg109Ter" }, "RefSeq": { "hgvs": "NP_000113.1:p.Arg109Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826882307", "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "C", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303416.2:c.133C>T" ], "proteinEffect": { "hgvs": "NP_001290345.1:p.Arg45Ter", "hgvsWellDefined": "NP_001290345.1:p.Arg45_Lys718delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683583" }, { "@id": "http://reg.genome.network/allele/PA916019542", "coordinates": [ { "allele": "T", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN003435", "geneNCBI_id": 2071, "geneSymbol": "ERCC3", "hgvs": [ "NM_001303418.2:c.133C>T" ], "proteinEffect": { "hgvs": "NP_001290347.1:p.Arg45Ter", "hgvsWellDefined": "NP_001290347.1:p.Arg45_Lys718delinsProThrHisValHisGluTyrLysLeuThrAlaTyrSerLeuTyrAlaAlaValSerValGlyLeuGlnThrSerAspIleThrGluTyrLeuArgLysLeuSerLysThrGlyValProAspGlyIleMetGlnPheIleLysLeuCysThrValSerTyrGlyLysValLysLeuValLeuLysHisAsnArgTyrPheValGluSerCysHisProAspValIleGlnHisLeuLeuGlnAspProValIleArgGluCysArgLeuArgAsnSerGluGlyGluAlaThrGluLeuIleThrGluThrPheThrSerLysSerAlaIleSerLysThrAlaGluSerSerGlyGlyProSerThrSerArgValThrAspProGlnGlyLysSerAspIleProMetAspLeuPheAspPheTyrGluGlnMetAspLysAspGluGluGluGluGluGluThrGlnThrValSerPheGluValLysGlnGluMetIleGluGluLeuGlnLysArgCysIleHisLeuGluTyrProLeuLeuAlaGluTyrAspPheArgAsnAspSerValAsnProAspIleAsnIleAspLeuLysProThrAlaValLeuArgProTyrGlnGluLysSerLeuArgLysMetPheGlyAsnGlyArgAlaArgSerGlyValIleValLeuProCysGlyAlaGlyLysSerLeuValGlyValThrAlaAlaCysThrValArgLysArgCysLeuValLeuGlyAsnSerAlaValSerValGluGlnTrpLysAlaGlnPheLysMetTrpSerThrIleAspAspSerGlnIleCysArgPheThrSerAspAlaLysAspLysProIleGlyCysSerValAlaIleSerThrTyrSerMetLeuGlyHisThrThrLysArgSerTrpGluAlaGluArgValMetGluTrpLeuLysThrGlnGluTrpGlyLeuMetIleLeuAspGluValHisThrIleProAlaLysMetPheArgArgValLeuThrIleValGlnAlaHisCysLysLeuGlyLeuThrAlaThrLeuValArgGluAspAspLysIleValAspLeuAsnPheLeuIleGlyProLysLeuTyrGluAlaAsnTrpMetGluLeuGlnAsnAsnGlyTyrIleAlaLysValGlnCysAlaGluValTrpCysProMetSerProGluPheTyrArgGluTyrValAlaIleLysThrLysLysArgIleLeuLeuTyrThrMetAsnProAsnLysPheArgAlaCysGlnPheLeuIleLysPheHisGluArgArgAsnAspLysIleIleValPheAlaAspAsnValPheAlaLeuLysGluTyrAlaIleArgLeuAsnLysProTyrIleTyrGlyProThrSerGlnGlyGluArgMetGlnIleLeuGlnAsnPheLysHisAsnProLysIleAsnThrIlePheIleSerLysValGlyAspThrSerPheAspLeuProGluAlaAsnValLeuIleGlnIleSerSerHisGlyGlySerArgArgGlnGluAlaGlnArgLeuGlyArgValLeuArgAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683584" } ], "type": "nucleotide" }