{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA394808563", "communityStandardTitle": [ "NM_002582.4(PARN):c.657G>A (p.Trp219Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=843121[alleleid]", "alleleId": 843121, "preferredName": "NM_002582.4(PARN):c.657G>A (p.Trp219Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/857552", "RCV": [ "RCV001063256" ], "variationId": 857552 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.14702140C>T?assembly=hg19", "id": "chr16:g.14702140C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.14608283C>T?assembly=hg38", "id": "chr16:g.14608283C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1363931577", "rs": 1363931577 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-14702140-C-T?dataset=gnomad_r2_1", "id": "16-14702140-C-T", "variant": "16:14702140 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-14608283-C-T?dataset=gnomad_r4", "id": "16-14608283-C-T", "variant": "16:14608283 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 14608283, "referenceAllele": "C", "start": 14608282 } ], "hgvs": [ "NC_000016.10:g.14608283C>T", "CM000678.2:g.14608283C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 14702140, "referenceAllele": "C", "start": 14702139 } ], "hgvs": [ "NC_000016.9:g.14702140C>T", "CM000678.1:g.14702140C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 14609641, "referenceAllele": "C", "start": 14609640 } ], "hgvs": [ "NC_000016.8:g.14609641C>T" ], "referenceGenome": 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"referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000437198.7:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000387911.2:p.Trp219Ter", "hgvsWellDefined": "ENSP00000387911.2:p.Trp219_Trp639delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" 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"http://reg.genome.network/refseq/RS760419" }, { "coordinates": [ { "allele": "A", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000650960.1:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000499110.1:p.Trp219Ter", "hgvsWellDefined": "ENSP00000499110.1:p.Trp219_Thr590delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnArgGlnGlyLeuIleLeuLeuProArgLeuGluCysSerGlyThrIleThrAlaCysCysSerPheAspLeuLeuGlySerSerAspProProThrSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771397" }, { "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000650990.1:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000498741.1:p.Trp219Ter", "hgvsWellDefined": "ENSP00000498741.1:p.Trp219_Trp664delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaLeuSerLeuAsnPheProArgCysSerPheCysLeuLeuHisGluValPheIleAlaCysTyrLeuAlaGlnGluAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771411" }, { "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651027.1:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000498640.1:p.Trp219Ter", "hgvsWellDefined": "ENSP00000498640.1:p.Trp219_Cys524delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleValSerCysArgPheThrLeuArgMetArgSerThrCysAsnLysLeuIleLeuThrLeuThrCysSerSerLeuTyrPheProProIleCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771426" }, { "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651049.1:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000498644.1:p.Trp219Ter", "hgvsWellDefined": "ENSP00000498644.1:p.Trp219_Gln585delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerAspLysProArgGlnHisSerPheGlnMetAspAsnGlnLysArgGluLeuIleAsnGlnAspGluSerValIleArgAsnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771439" }, { "coordinates": [ { "allele": "A", "end": 1683, "referenceAllele": "G", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651241.1:n.1683G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771549" }, { "coordinates": [ { "allele": "A", "end": 859, "referenceAllele": "G", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651300.1:c.*551G>A" ], "proteinEffect": { "hgvs": "ENSP00000498294.1:n.*551G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771584" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "G", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651348.1:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000498315.1:p.Trp219Ter", "hgvsWellDefined": "ENSP00000498315.1:p.Trp219_Lys349delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaMetGluSerHisSerPheThrArgLeuGluCysSerGlyMetIleSerAlaProCysAsnIleArgLeuLeuGlySerSerAspSerProAlaSerAlaSerArgValAlaGlyThrThrGlyLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771617" }, { "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651634.1:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000499078.1:p.Trp219Ter", "hgvsWellDefined": "ENSP00000499078.1:p.Trp219_Leu577delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheArgIleSerSerArgIleProTyrTyrIleTrpProSerTyrLeuHisArgLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771780" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651760.1:c.457G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771841" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "G", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651865.1:c.507G>A" ], "proteinEffect": { "hgvs": "ENSP00000498567.1:p.Trp169Ter", "hgvsWellDefined": "ENSP00000498567.1:p.Trp169_Trp614delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaLeuSerLeuAsnPheProArgCysSerPheCysLeuLeuHisGluValPheIleAlaCysTyrLeuAlaGlnGluAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771900" }, { "coordinates": [ { "allele": "A", "end": 607, "referenceAllele": "G", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000651913.1:c.607G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771926" }, { "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "G", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000652051.1:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000498898.1:p.Trp219Ter", "hgvsWellDefined": "ENSP00000498898.1:p.Trp219_Lys446delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysValSerLeuCysCysGlnAlaGlyValGlnTrpArgAsnLeuAspSerLeuGlnLeuLeuProProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772002" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ 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"ENSP00000498261.1:p.Trp219_Leu499delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleGlyIleGlnAlaMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772244" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "G", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000652541.1:c.*391G>A" ], "proteinEffect": { "hgvs": "ENSP00000499206.1:n.*391G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772264" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "G", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000652727.1:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000498650.1:p.Trp219Ter", "hgvsWellDefined": "ENSP00000498650.1:p.Trp219_Trp581delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspCysAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772374" }, { "coordinates": [ { "allele": "A", "end": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000341484.11:c.474G>A" ], "proteinEffect": { "hgvs": "ENSP00000345456.7:p.Trp158Ter", "hgvsWellDefined": "ENSP00000345456.7:p.Trp158_Trp578delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261346" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "G", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000420015.6:c.519G>A" ], "proteinEffect": { "hgvs": "ENSP00000410525.2:p.Trp173Ter", "hgvsWellDefined": "ENSP00000410525.2:p.Trp173_Trp593delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS286137" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "G", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000437198.6:c.657G>A" ], "proteinEffect": { "hgvs": "ENSP00000387911.2:p.Trp219Ter", "hgvsWellDefined": "ENSP00000387911.2:p.Trp219_Trp639delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294348" }, { "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000538472.5:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000445659.1:p.Trp202Ter", "hgvsWellDefined": "ENSP00000445659.1:p.Trp202_Ile207delinsLysArgSerAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361343" }, { "coordinates": [ { "allele": "A", "end": 290, "endIntronDirection": "-", "endIntronOffset": 4056, "referenceAllele": "G", "start": 290, "startIntronDirection": "-", "startIntronOffset": 4057 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000539279.5:c.178-4057G>A" ], "proteinEffect": { "hgvs": "ENSP00000444381.1:n.178-4057G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361777" }, { "coordinates": [ { "allele": "A", "end": 159, "referenceAllele": "G", "start": 158 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000563155.1:n.159G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS377233" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000563641.5:c.*391G>A" ], "proteinEffect": { "hgvs": "ENSP00000458103.1:n.*391G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS377557" }, { "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "ENST00000569444.5:c.203G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381478" }, { "@id": "http://reg.genome.network/allele/PA2825781007", "coordinates": [ { "allele": "A", "end": 720, "referenceAllele": "G", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "NM_001134477.2:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001127949.1:p.Trp158Ter", "hgvsWellDefined": "NP_001127949.1:p.Trp158_Trp578delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012260" }, { "@id": "http://reg.genome.network/allele/PA2826313820", "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "NM_001242992.1:c.519G>A" ], "proteinEffect": { "hgvs": "NP_001229921.1:p.Trp173Ter", "hgvsWellDefined": "NP_001229921.1:p.Trp173_Trp593delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018387" }, { "@id": "http://reg.genome.network/allele/PA1139712208", "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "G", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "NM_002582.3:c.657G>A" ], "proteinEffect": { "hgvs": "NP_002573.1:p.Trp219Ter", "hgvsWellDefined": "NP_002573.1:p.Trp219_Trp639delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027882" }, { "coordinates": [ { "allele": "A", "end": 807, "referenceAllele": "G", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522510.1:c.657G>A" ], "proteinEffect": { "hgvs": "XP_011520812.1:p.Trp219Ter", "hgvsWellDefined": "XP_011520812.1:p.Trp219_Gln585delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerAspLysProArgGlnHisSerPheGlnMetAspAsnGlnLysArgGluLeuIleAsnGlnAspGluSerValIleArgAsnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089661" }, { "coordinates": [ { "allele": "A", "end": 807, "referenceAllele": "G", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522511.1:c.657G>A" ], "proteinEffect": { "hgvs": "XP_011520813.1:p.Trp219Ter", "hgvsWellDefined": "XP_011520813.1:p.Trp219_Leu577delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheArgIleSerSerArgIleProTyrTyrIleTrpProSerTyrLeuHisArgLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089662" }, { "coordinates": [ { "allele": "A", "end": 807, "referenceAllele": "G", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522512.1:c.657G>A" ], "proteinEffect": { "hgvs": "XP_011520814.1:p.Trp219Ter", "hgvsWellDefined": "XP_011520814.1:p.Trp219_Gln556delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspCysAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerAspLysProArgGlnHisSerPheGlnMetAspAsnGlnLysArgGluLeuIleAsnGlnAspGluSerValIleArgAsnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089663" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "G", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522513.1:c.474G>A" ], "proteinEffect": { "hgvs": "XP_011520815.1:p.Trp158Ter", "hgvsWellDefined": "XP_011520815.1:p.Trp158_Gln524delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerAspLysProArgGlnHisSerPheGlnMetAspAsnGlnLysArgGluLeuIleAsnGlnAspGluSerValIleArgAsnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089664" }, { "coordinates": [ { "allele": "A", "end": 807, "referenceAllele": "G", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522514.1:c.657G>A" ], "proteinEffect": { "hgvs": "XP_011520816.1:p.Trp219Ter", "hgvsWellDefined": "XP_011520816.1:p.Trp219_Ile426delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysValProLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089665" }, { "@id": "http://reg.genome.network/allele/PA1139712208", "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "NM_002582.4:c.657G>A" ], "proteinEffect": { "hgvs": "NP_002573.1:p.Trp219Ter", "hgvsWellDefined": "NP_002573.1:p.Trp219_Trp639delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437198.7:c.657G>A" }, "RefSeq": { "hgvs": "NM_002582.4:c.657G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387911.2:p.Trp219Ter" }, "RefSeq": { "hgvs": "NP_002573.1:p.Trp219Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522510.3:c.657G>A" ], "proteinEffect": { "hgvs": "XP_011520812.1:p.Trp219Ter", "hgvsWellDefined": "XP_011520812.1:p.Trp219_Gln585delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerAspLysProArgGlnHisSerPheGlnMetAspAsnGlnLysArgGluLeuIleAsnGlnAspGluSerValIleArgAsnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546633" }, { "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522511.2:c.657G>A" ], "proteinEffect": { "hgvs": "XP_011520813.1:p.Trp219Ter", "hgvsWellDefined": "XP_011520813.1:p.Trp219_Leu577delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheArgIleSerSerArgIleProTyrTyrIleTrpProSerTyrLeuHisArgLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546634" }, { "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522513.2:c.474G>A" ], "proteinEffect": { "hgvs": "XP_011520815.1:p.Trp158Ter", "hgvsWellDefined": "XP_011520815.1:p.Trp158_Gln524delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerAspLysProArgGlnHisSerPheGlnMetAspAsnGlnLysArgGluLeuIleAsnGlnAspGluSerValIleArgAsnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546635" }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_011522514.2:c.657G>A" ], "proteinEffect": { "hgvs": "XP_011520816.1:p.Trp219Ter", "hgvsWellDefined": "XP_011520816.1:p.Trp219_Ile426delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysValProLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546636" }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_017023258.2:c.657G>A" ], "proteinEffect": { "hgvs": "XP_016878747.1:p.Trp219Ter", "hgvsWellDefined": "XP_016878747.1:p.Trp219_Gln559delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerAspLysProArgGlnHisSerPheGlnMetAspAsnGlnLysArgGluLeuIleAsnGlnAspGluSerValIleArgAsnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574050" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "G", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_017023259.2:c.-137G>A" ], "proteinEffect": { "hgvs": "XP_016878748.1:n.-137G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574051" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_017023260.1:c.-137G>A" ], "proteinEffect": { "hgvs": "XP_016878749.1:n.-137G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574052" }, { "coordinates": [ { "allele": "A", "end": 1532, "referenceAllele": "G", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XM_024450292.1:c.-137G>A" ], "proteinEffect": { "hgvs": "XP_024306060.1:n.-137G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS583832" }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XR_001751906.2:n.818G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598694" }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "XR_001751907.2:n.818G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598695" }, { "@id": "http://reg.genome.network/allele/PA2825781007", "coordinates": [ { "allele": "A", "end": 709, "referenceAllele": "G", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "NM_001134477.3:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001127949.1:p.Trp158Ter", "hgvsWellDefined": "NP_001127949.1:p.Trp158_Trp578delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677237" }, { "@id": "http://reg.genome.network/allele/PA2826313820", "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN008609", "geneNCBI_id": 5073, "geneSymbol": "PARN", "hgvs": [ "NM_001242992.2:c.519G>A" ], "proteinEffect": { "hgvs": "NP_001229921.1:p.Trp173Ter", "hgvsWellDefined": "NP_001229921.1:p.Trp173_Trp593delinsLysTyrProLysGlyIleHisValGluThrLeuGluThrGluLysLysGluArgTyrIleValIleSerLysValAspGluGluGluArgLysArgArgGluGlnGlnLysHisAlaLysGluGlnGluGluLeuAsnAspAlaValGlyPheSerArgValIleHisAlaIleAlaAsnSerGlyLysLeuValIleGlyHisAsnMetLeuLeuAspValMetHisThrValHisGlnPheTyrCysProLeuProAlaAspLeuSerGluPheLysGluMetThrThrCysValPheProArgLeuLeuAspThrLysLeuMetAlaSerThrGlnProPheLysAspIleIleAsnAsnThrSerLeuAlaGluLeuGluLysArgLeuLysGluThrProPheAsnProProLysValGluSerAlaGluGlyPheProSerTyrAspThrAlaSerGluGlnLeuHisGluAlaGlyTyrAspAlaTyrIleThrGlyLeuCysPheIleSerMetAlaAsnTyrLeuGlySerPheLeuSerProProLysIleHisValSerAlaArgSerLysLeuIleGluProPhePheAsnLysLeuPheLeuMetArgValMetAspIleProTyrLeuAsnLeuGluGlyProAspLeuGlnProLysArgAspHisValLeuHisValThrPheProLysGluTrpLysThrSerAspLeuTyrGlnLeuPheSerAlaPheGlyAsnIleGlnIleSerTrpIleAspAspThrSerAlaPheValSerLeuSerGlnProGluGlnValLysIleAlaValAsnThrSerLysTyrAlaGluSerTyrArgIleGlnThrTyrAlaGluTyrMetGlyArgLysGlnGluGluLysGlnIleLysArgLysTrpThrGluAspSerTrpLysGluAlaAspSerLysArgLeuAsnProGlnCysIleProTyrThrLeuGlnAsnHisTyrTyrArgAsnAsnSerPheThrAlaProSerThrValGlyLysArgAsnLeuSerProSerGlnGluGluAlaGlyLeuGluAspGlyValSerGlyGluIleSerAspThrGluLeuGluGlnThrAspSerCysAlaGluProLeuSerGluGlyArgLysLysAlaLysLysLeuLysArgMetLysLysGluLeuSerProAlaGlySerIleSerLysAsnSerProAlaThrLeuPheGluValProAspThrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680167" } ], "type": "nucleotide" }