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}, "referenceSequence": "http://reg.genome.network/refseq/RS908753" }, { "coordinates": [ { "allele": "G", "end": 2730, "referenceAllele": "C", "start": 2729 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "ENST00000697384.1:n.2730C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS908754" }, { "coordinates": [ { "allele": "G", "end": 2729, "referenceAllele": "C", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "ENST00000261584.9:c.2576C>G" ], "proteinEffect": { "hgvs": "ENSP00000261584.4:p.Ser859Ter", "hgvsWellDefined": "ENSP00000261584.4:p.Ser859_Ser1186delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742164", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261584.9:c.2576C>G" }, "RefSeq": { "hgvs": "NM_024675.4:c.2576C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261584.4:p.Ser859Ter" }, "RefSeq": { "hgvs": "NP_078951.2:p.Ser859Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2729, "referenceAllele": "C", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "ENST00000261584.8:c.2576C>G" ], "proteinEffect": { "hgvs": "ENSP00000261584.4:p.Ser859Ter", "hgvsWellDefined": "ENSP00000261584.4:p.Ser859_Ser1186delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250784" }, { "coordinates": [ { "allele": "G", "end": 148, "referenceAllele": "C", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "ENST00000565038.1:c.148C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS378503" }, { "coordinates": [ { "allele": "G", "end": 2687, "referenceAllele": "C", "start": 2686 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "ENST00000568219.5:c.1691C>G" ], "proteinEffect": { "hgvs": "ENSP00000454703.2:p.Ser564Ter", "hgvsWellDefined": "ENSP00000454703.2:p.Ser564_Ser891delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380628" }, { "@id": "http://reg.genome.network/allele/PA645423777", "coordinates": [ { "allele": "G", "end": 2776, "referenceAllele": "C", "start": 2775 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "NM_024675.3:c.2576C>G", "LRG_308t1:c.2576C>G" ], "proteinEffect": { "hgvs": "NP_078951.2:p.Ser859Ter", "hgvsWellDefined": "NP_078951.2:p.Ser859_Ser1186delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037924" }, { "coordinates": [ { "allele": "G", "end": 3371, "referenceAllele": "C", "start": 3370 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_011545946.1:c.2582C>G" ], "proteinEffect": { "hgvs": "XP_011544248.1:p.Ser861Ter", "hgvsWellDefined": "XP_011544248.1:p.Ser861_Ser1188delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112826" }, { "coordinates": [ { "allele": "G", "end": 3372, "referenceAllele": "C", "start": 3371 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_011545947.1:c.2582C>G" ], "proteinEffect": { "hgvs": "XP_011544249.1:p.Ser861Ter", "hgvsWellDefined": "XP_011544249.1:p.Ser861_Arg1073delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetValProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112827" }, { "coordinates": [ { "allele": "G", "end": 2832, "referenceAllele": "C", "start": 2831 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_011545948.1:c.1691C>G" ], "proteinEffect": { "hgvs": "XP_011544250.1:p.Ser564Ter", "hgvsWellDefined": "XP_011544250.1:p.Ser564_Ser891delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112828" }, { "coordinates": [ { "allele": "G", "end": 3372, "referenceAllele": "C", "start": 3371 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XR_950851.1:n.3372C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS143781" }, { "coordinates": [ { "allele": "G", "end": 3581, "referenceAllele": "C", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_011545946.2:c.2582C>G" ], "proteinEffect": { "hgvs": "XP_011544248.1:p.Ser861Ter", "hgvsWellDefined": "XP_011544248.1:p.Ser861_Ser1188delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556315" }, { "coordinates": [ { "allele": "G", "end": 3546, "referenceAllele": "C", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_011545947.2:c.2582C>G" ], "proteinEffect": { "hgvs": "XP_011544249.1:p.Ser861Ter", "hgvsWellDefined": "XP_011544249.1:p.Ser861_Arg1073delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetValProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556316" }, { "coordinates": [ { "allele": "G", "end": 2868, "referenceAllele": "C", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_011545948.2:c.1691C>G" ], "proteinEffect": { "hgvs": "XP_011544250.1:p.Ser564Ter", "hgvsWellDefined": "XP_011544250.1:p.Ser564_Ser891delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556317" }, { "coordinates": [ { "allele": "G", "end": 3546, "referenceAllele": "C", "start": 3545 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_017023671.1:c.2582C>G" ], "proteinEffect": { "hgvs": "XP_016879160.1:p.Ser861Ter", "hgvsWellDefined": "XP_016879160.1:p.Ser861_Ser1109delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574393" }, { "coordinates": [ { "allele": "G", "end": 2756, "referenceAllele": "C", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_017023672.2:c.2576C>G" ], "proteinEffect": { "hgvs": "XP_016879161.1:p.Ser859Ter", "hgvsWellDefined": "XP_016879161.1:p.Ser859_Ser1107delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574394" }, { "coordinates": [ { "allele": "G", "end": 2756, "referenceAllele": "C", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "XM_017023673.2:c.2576C>G" ], "proteinEffect": { "hgvs": "XP_016879162.1:p.Ser859Ter", "hgvsWellDefined": "XP_016879162.1:p.Ser859_Arg1071delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetValProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574395" }, { "@id": "http://reg.genome.network/allele/PA645423777", "coordinates": [ { "allele": "G", "end": 2729, "referenceAllele": "C", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN026144", "geneNCBI_id": 79728, "geneSymbol": "PALB2", "hgvs": [ "NM_024675.4:c.2576C>G" ], "proteinEffect": { "hgvs": "NP_078951.2:p.Ser859Ter", "hgvsWellDefined": "NP_078951.2:p.Ser859_Ser1186delinsGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698739", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261584.9:c.2576C>G" }, "RefSeq": { "hgvs": "NM_024675.4:c.2576C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261584.4:p.Ser859Ter" }, "RefSeq": { "hgvs": "NP_078951.2:p.Ser859Ter" } } } } ], "type": "nucleotide" }