{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274412", "communityStandardTitle": [ "NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186709[alleleid]", "alleleId": 186709, "preferredName": "NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189143", "RCV": [ "RCV000169564", "RCV000415427", "RCV001091108", "RCV001374661", "RCV001814084" ], "variationId": 189143 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-51712764-G-T", "id": "6-51712764-G-T", "variant": "6:51712764 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51712764G>T?assembly=hg19", "id": "chr6:g.51712764G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.51847966G>T?assembly=hg38", "id": "chr6:g.51847966G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/181208607", "rs": 181208607 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51712764-G-T?dataset=gnomad_r2_1", "id": "6-51712764-G-T", "variant": "6:51712764 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51847966-G-T?dataset=gnomad_r3", "id": "6-51847966-G-T", "variant": "6:51847966 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-51847966-G-T?dataset=gnomad_r4", "id": "6-51847966-G-T", "variant": "6:51847966 G / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 51847966, "referenceAllele": "G", "start": 51847965 } ], "hgvs": [ "NC_000006.12:g.51847966G>T", "CM000668.2:g.51847966G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 51712764, "referenceAllele": "G", "start": 51712763 } ], 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"http://reg.genome.network/refseq/RS750727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.7916C>A" }, "RefSeq": { "hgvs": "NM_138694.4:c.7916C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Ser2639Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Ser2639Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 8177, "referenceAllele": "C", "start": 8176 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "ENST00000340994.4:c.7916C>A" ], "proteinEffect": { "hgvs": "ENSP00000341097.4:p.Ser2639Ter", "hgvsWellDefined": 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"geneSymbol": "PKHD1", "hgvs": [ "NM_170724.2:c.7916C>A" ], "proteinEffect": { "hgvs": "NP_733842.2:p.Ser2639Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS042573" }, { "coordinates": [ { "allele": "A", "end": 8016, "referenceAllele": "C", "start": 8015 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514679.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512981.1:p.Ser2639Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081904" }, { "coordinates": [ { "allele": "A", "end": 8028, "referenceAllele": "C", "start": 8027 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Ser2639Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081905" }, { "coordinates": [ { "allele": "A", "end": 8167, "referenceAllele": "C", "start": 8166 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514681.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512983.1:p.Ser2639Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081906" }, { "coordinates": [ { "allele": "A", "end": 8167, "referenceAllele": "C", "start": 8166 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Ser2639Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081907" }, { "coordinates": [ { "allele": "A", "end": 7525, "referenceAllele": "C", "start": 7524 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.1:c.7274C>A" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Ser2425Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081908" }, { "coordinates": [ { "allele": "A", "end": 7289, "referenceAllele": "C", "start": 7288 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.1:c.7205C>A" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Ser2402Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081909" }, { "coordinates": [ { "allele": "A", "end": 8192, "referenceAllele": "C", "start": 8191 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514685.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512987.1:p.Ser2639Ter", "hgvsWellDefined": "XP_011512987.1:p.Ser2639_Asn3416delinsAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyProArgLeuLysTyrHisGlnMetLeuMetThrSerAsnLeuTyrProGlnProArgLeuAspProGluIleTrpSerSerIleAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081910" }, { "coordinates": [ { "allele": "A", "end": 8192, "referenceAllele": "C", "start": 8191 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Ser2639Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS081912" }, { "coordinates": [ { "allele": "A", "end": 8167, "referenceAllele": "C", "start": 8166 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Ser2639Ter", "hgvsWellDefined": "XP_011512990.1:p.Ser2639_Leu3278delinsAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081913" }, { "coordinates": [ { "allele": "A", "end": 8167, "referenceAllele": "C", "start": 8166 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514689.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512991.1:p.Ser2639Ter", "hgvsWellDefined": "XP_011512991.1:p.Ser2639_Thr2770delinsAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProThrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081914" }, { "coordinates": [ { "allele": "A", "end": 2030, "referenceAllele": "C", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514690.1:c.1991C>A" ], "proteinEffect": { "hgvs": "XP_011512992.1:p.Ser664Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081915" }, { "coordinates": [ { "allele": "A", "end": 2349, "referenceAllele": "C", "start": 2348 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514691.1:c.1991C>A" ], "proteinEffect": { "hgvs": "XP_011512993.1:p.Ser664Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS081916" }, { "coordinates": [ { "allele": "A", "end": 8536, "referenceAllele": "C", "start": 8535 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514680.3:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512982.1:p.Ser2639Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543423" }, { "coordinates": [ { "allele": "A", "end": 8158, "referenceAllele": "C", "start": 8157 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514682.3:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512984.1:p.Ser2639Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543424" }, { "coordinates": [ { "allele": "A", "end": 7516, "referenceAllele": "C", "start": 7515 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514683.3:c.7274C>A" ], "proteinEffect": { "hgvs": "XP_011512985.1:p.Ser2425Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543425" }, { "coordinates": [ { "allele": "A", "end": 7302, "referenceAllele": "C", "start": 7301 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514684.3:c.7205C>A" ], "proteinEffect": { "hgvs": "XP_011512986.1:p.Ser2402Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS543426" }, { "coordinates": [ { "allele": "A", "end": 8192, "referenceAllele": "C", "start": 8191 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514686.2:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512988.1:p.Ser2639Ter", "hgvsWellDefined": "XP_011512988.1:p.Ser2639_Pro3402delinsAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaGlyLeuLeuGlyThrLysGluGluPheProTyrValLeuTyrProLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543427" }, { "coordinates": [ { "allele": "A", "end": 8158, "referenceAllele": "C", "start": 8157 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_011514688.2:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_011512990.1:p.Ser2639Ter", "hgvsWellDefined": "XP_011512990.1:p.Ser2639_Leu3278delinsAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnValLeuTer" 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"http://reg.genome.network/refseq/RS564904" }, { "coordinates": [ { "allele": "A", "end": 8158, "referenceAllele": "C", "start": 8157 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XM_017010952.1:c.7916C>A" ], "proteinEffect": { "hgvs": "XP_016866441.1:p.Ser2639Ter", "hgvsWellDefined": "XP_016866441.1:p.Ser2639_Thr2770delinsAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProThrPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564905" }, { "coordinates": [ { "allele": "A", "end": 8192, "referenceAllele": "C", "start": 8191 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "XR_001743469.1:n.8192C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592682" }, { "coordinates": [ { "allele": "A", "end": 8180, "referenceAllele": "C", "start": 8179 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_138694.4:c.7916C>A" ], "proteinEffect": { "hgvs": "NP_619639.3:p.Ser2639Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS699767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371117.8:c.7916C>A" }, "RefSeq": { "hgvs": "NM_138694.4:c.7916C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360158.3:p.Ser2639Ter" }, "RefSeq": { "hgvs": "NP_619639.3:p.Ser2639Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916059754", "coordinates": [ { "allele": "A", "end": 8180, "referenceAllele": "C", "start": 8179 } ], "gene": "http://reg.genome.network/gene/GN009016", "geneNCBI_id": 5314, "geneSymbol": "PKHD1", "hgvs": [ "NM_170724.3:c.7916C>A" ], "proteinEffect": { "hgvs": "NP_733842.2:p.Ser2639Ter", "hgvsWellDefined": "NP_733842.2:p.Ser2639_Glu3396delinsAlaThrPheAspAsnPheAlaProGlyAsnTyrLeuLeuLeuValHisThrAspLeuProProTyrProAspIleLeuLeuArgCysGlySerArgValGlyLeuSerPheProPheLeuProSerProGlyGlnAsnGlnGlyCysAspTrpPhePheAsnSerGlnLeuArgGlnLeuThrTyrLeuValSerGlyGluGlyGlnValGlnValIleLeuArgValLysGluGlyMetProProThrIleSerAlaSerThrSerAlaProGluSerAlaLeuLysTrpSerLeuProGluThrTrpGlnGlyValGluGluGlyTrpGlyGlyTyrAsnAsnThrIleProGlyProGlyAspAspValLeuIleLeuProAsnArgThrValLeuValAspThrAspLeuProPhePheLysGlyLeuTyrValMetGlyThrLeuAspPheProValAspArgSerAsnValLeuSerValAlaCysMetValIleAlaGlyGlyGluLeuLysValGlyThrLeuGluAsnProLeuGluLysGluGlnLysLeuLeuIleLeuLeuArgAlaSerGluGlyValPheCysAspArgMetAsnGlyIleHisIleAspProGlyThrIleGlyValTyrGlyLysValHisLeuTyrSerAlaTyrProLysAsnSerTrpThrHisLeuGlyAlaAspIleAlaSerGlyAsnGluArgIleIleValGluAspAlaValAspTrpArgProHisAspLysIleValLeuSerSerSerSerTyrGluProHisGluAlaGluValLeuThrValLysGluValLysGlyHisHisValArgIleTyrGluArgLeuLysHisArgHisIleGlySerValHisValThrGluAspGlyArgHisIleArgLeuAlaAlaGluValGlyLeuLeuThrArgAsnIleGlnIleGlnProAspValSerCysArgGlyArgLeuPheValGlySerPheArgLysSerSerArgGluGluPheSerGlyValLeuGlnLeuLeuAsnValGluIleGlnAsnPheGlySerProLeuTyrSerSerValGluPheSerAsnValSerAlaGlySerTrpIleIleSerSerThrLeuHisGlnSerCysGlyGlyGlyIleHisAlaAlaAlaSerHisGlyValLeuLeuAsnAspAsnIleValPheGlyThrAlaGlyHisGlyIleAspLeuGluGlyGlnAlaTyrThrValThrAsnAsnLeuValValLeuMetThrGlnProAlaTrpSerThrIleTrpValAlaGlyIleLysValAsnGlnValLysAspIleAsnLeuHisGlyAsnValValAlaGlySerGluArgLeuGlyPheHisIleArgGlyHisLysCysSerSerCysGluLeuLeuTrpSerAspAsnValAlaHisSerSerLeuHisGlyLeuHisLeuTyrLysGluSerGlyLeuAspAsnCysThrArgIleSerGlyPheLeuAlaPheLysAsnPheAspTyrGlyAlaMetLeuHisValGluAsnSerValGluIleGluAsnIleThrLeuValAspAsnThrIleGlyLeuLeuAlaValValTyrValPheSerAlaProGlnAsnSerValLysLysValGlnIleValLeuArgAsnSerValIleValAlaThrSerSerSerPheAspCysIleGlnAspLysValLysProHisSerAlaAsnLeuThrSerThrAspArgAlaProSerAsnProArgGlyGlyArgIleGlyIleLeuTrpProValPheThrSerGluProAsnGlnTrpProGlnGluProTrpHisLysValArgAsnAspHisSerIleSerGlyIleMetLysLeuGlnAspValThrPheSerSerPheValLysSerCysTyrSerAspAspLeuAspValCysIleLeuProAsnAlaGluAsnSerGlyIleMetHisProIleThrAlaGluArgThrArgMetLeuLysIleLysAspLysAsnLysPheTyrPheProSerLeuGlnProArgLysAspLeuGlyLysValValCysProGluLeuAspCysAlaSerProArgLysTyrLeuPheLysAspLeuAspGlyArgAlaLeuGlyLeuProProProValSerValPheProLysThrGluAlaGluTrpThrAlaSerPhePheAsnAlaValThrThrGluGlnAlaLeuLysIleSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700451" } ], "type": "nucleotide" }