{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253011", "communityStandardTitle": [ "NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19151[alleleid]", "alleleId": 19151, "preferredName": "NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4112", "RCV": [ "RCV000004328", "RCV003137490" ], "variationId": 4112 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-51712669-G-A", "id": "6-51712669-G-A", "variant": "6:51712669 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51712669G>A?assembly=hg19", "id": "chr6:g.51712669G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51847871G>A?assembly=hg38", "id": "chr6:g.51847871G>A" } ], "dbSNP": [ { "@id": 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"http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.1:c.7300C>T" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Arg2434Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081909" }, { "coordinates": [ { "allele": "T", "end": 8287, "referenceAllele": "C", "start": 8286 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514685.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512987.1:p.Arg2671Ter", "hgvsWellDefined": "XP_011512987.1:p.Arg2671_Asn3416delinsValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyProArgLeuLysTyrHisGlnMetLeuMetThrSerAsnLeuTyrProGlnProArgLeuAspProGluIleTrpSerSerIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081910" }, { "coordinates": [ { "allele": "T", "end": 8287, "referenceAllele": "C", "start": 8286 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Arg2671Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081911" }, { "coordinates": [ { "allele": "T", "end": 8287, "referenceAllele": "C", "start": 8286 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514687.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512989.1:p.Arg2671Ter", "hgvsWellDefined": "XP_011512989.1:p.Arg2671_Thr3395delinsValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGluIleGlnAlaValLeuLysLeuGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081912" }, { "coordinates": [ { "allele": "T", "end": 8262, "referenceAllele": "C", "start": 8261 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Arg2671Ter", "hgvsWellDefined": "XP_011512990.1:p.Arg2671_Leu3278delinsValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081913" }, { "coordinates": [ { "allele": "T", "end": 8262, "referenceAllele": "C", "start": 8261 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514689.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512991.1:p.Arg2671Ter", "hgvsWellDefined": "XP_011512991.1:p.Arg2671_Thr2770delinsValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProThrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081914" }, { "coordinates": [ { "allele": "T", "end": 2125, "referenceAllele": "C", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.1:c.2086C>T" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Arg696Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081915" }, { "coordinates": [ { "allele": "T", "end": 2444, "referenceAllele": "C", "start": 2443 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.1:c.2086C>T" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Arg696Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081916" }, { "coordinates": [ { "allele": "T", "end": 8631, "referenceAllele": "C", "start": 8630 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.3:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Arg2671Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543423" }, { "coordinates": [ { "allele": "T", "end": 8253, "referenceAllele": "C", "start": 8252 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.3:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Arg2671Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543424" }, { "coordinates": [ { "allele": "T", "end": 7611, "referenceAllele": "C", "start": 7610 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.3:c.7369C>T" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Arg2457Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543425" }, { "coordinates": [ { "allele": "T", "end": 7397, "referenceAllele": "C", "start": 7396 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.3:c.7300C>T" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Arg2434Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543426" }, { "coordinates": [ { "allele": "T", "end": 8287, "referenceAllele": "C", "start": 8286 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.2:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Arg2671Ter", "hgvsWellDefined": "XP_011512988.1:p.Arg2671_Pro3402delinsValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyLeuLeuGlyThrLysGluGluPheProTyrValLeuTyrProLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543427" }, { "coordinates": [ { "allele": "T", "end": 8253, "referenceAllele": "C", "start": 8252 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.2:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Arg2671Ter", "hgvsWellDefined": "XP_011512990.1:p.Arg2671_Leu3278delinsValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543428" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "C", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.3:c.2086C>T" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Arg696Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543429" }, { "coordinates": [ { "allele": "T", "end": 8198, "referenceAllele": "C", "start": 8197 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.3:c.2086C>T" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Arg696Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543430" }, { "coordinates": [ { "allele": "T", "end": 8113, "referenceAllele": "C", "start": 8112 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ 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"end": 8287, "referenceAllele": "C", "start": 8286 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010950.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_016866439.1:p.Arg2671Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564903" }, { "coordinates": [ { "allele": "T", "end": 8253, "referenceAllele": "C", "start": 8252 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010951.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_016866440.1:p.Arg2671Ter", "hgvsWellDefined": 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"start": 8252 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010952.1:c.8011C>T" ], "proteinEffect": { "hgvs": "XP_016866441.1:p.Arg2671Ter", "hgvsWellDefined": "XP_016866441.1:p.Arg2671_Thr2770delinsValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProThrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564905" }, { "coordinates": [ { "allele": "T", "end": 8287, "referenceAllele": "C", "start": 8286 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XR_001743469.1:n.8287C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592682" }, { "coordinates": [ { "allele": "T", "end": 8275, "referenceAllele": "C", "start": 8274 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.4:c.8011C>T" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Arg2671Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS699767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.8011C>T" }, "RefSeq": { "hgvs": "NM_138694.4:c.8011C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Arg2671Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Arg2671Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916059770", "coordinates": [ { "allele": "T", "end": 8275, "referenceAllele": "C", "start": 8274 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_170724.3:c.8011C>T" ], "proteinEffect": { "hgvs": "NP_733842.2:p.Arg2671Ter", "hgvsWellDefined": "NP_733842.2:p.Arg2671_Glu3396delinsValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700451" } ], "type": "nucleotide" }