{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA280927", "communityStandardTitle": [ "NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=215782[alleleid]", "alleleId": 215782, "preferredName": "NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218948", "RCV": [ "RCV000203288", "RCV000207324" ], "variationId": 218948 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.27760955C>T?assembly=hg19", "id": "chr16:g.27760955C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.27749634C>T?assembly=hg38", "id": "chr16:g.27749634C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/864309712", "rs": 864309712 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-27749634-C-T?dataset=gnomad_r4", "id": "16-27749634-C-T", "variant": "16:27749634 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 27749634, "referenceAllele": "C", "start": 27749633 } ], "hgvs": [ "NC_000016.10:g.27749634C>T", "CM000678.2:g.27749634C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 27760955, "referenceAllele": "C", "start": 27760954 } ], "hgvs": [ "NC_000016.9:g.27760955C>T", "CM000678.1:g.27760955C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 27668456, "referenceAllele": "C", "start": 27668455 } ], "hgvs": [ "NC_000016.8:g.27668456C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 204488, "referenceAllele": "C", "start": 204487 } ], "hgvs": [ "NG_046731.1:g.204488C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616395" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "ENST00000261588.10:c.2674C>T" ], "proteinEffect": { "hgvs": "ENSP00000261588.4:p.Gln892Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS742165" }, { "coordinates": [ { "allele": "T", "end": 2693, "referenceAllele": "C", "start": 2692 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "ENST00000261588.8:c.2674C>T" ], "proteinEffect": { "hgvs": "ENSP00000261588.4:p.Gln892Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS250785" }, { "coordinates": [ { "allele": "T", "end": 779, "referenceAllele": "C", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "ENST00000573850.1:n.779C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS383457" }, { "@id": "http://reg.genome.network/allele/PA351482", "coordinates": [ { "allele": "T", "end": 2698, "referenceAllele": "C", "start": 2697 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "NM_015202.2:c.2674C>T" ], "proteinEffect": { "hgvs": "NP_056017.2:p.Gln892Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS033827" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "C", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255201.2:c.2857C>T" ], "proteinEffect": { "hgvs": "XP_005255258.1:p.Gln953Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060871" }, { "coordinates": [ { "allele": "T", "end": 2855, "referenceAllele": "C", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255202.2:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_005255259.1:p.Gln935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060872" }, { "coordinates": [ { "allele": "T", "end": 2780, "referenceAllele": "C", "start": 2779 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255203.2:c.2728C>T" ], "proteinEffect": { "hgvs": "XP_005255260.1:p.Gln910Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060873" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "C", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255206.2:c.2857C>T" ], "proteinEffect": { "hgvs": "XP_005255263.1:p.Gln953Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060875" }, { "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "C", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255208.2:c.1453C>T" ], "proteinEffect": { "hgvs": "XP_005255265.1:p.Gln485Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060876" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_006721025.2:c.2596C>T" ], "proteinEffect": { "hgvs": "XP_006721088.1:p.Gln866Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS112657" }, { "coordinates": [ { "allele": "T", "end": 2816, "referenceAllele": "C", "start": 2815 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545774.1:c.2779C>T" ], "proteinEffect": { "hgvs": "XP_011544076.1:p.Gln927Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS112658" }, { "coordinates": [ { "allele": "T", "end": 2789, "referenceAllele": "C", "start": 2788 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545775.1:c.2737C>T" ], "proteinEffect": { "hgvs": "XP_011544077.1:p.Gln913Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS112659" }, { "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545776.1:c.2725C>T" ], "proteinEffect": { "hgvs": "XP_011544078.1:p.Gln909Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS112660" }, { "coordinates": [ { "allele": "T", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545777.1:c.778C>T" ], "proteinEffect": { "hgvs": "XP_011544079.1:p.Gln260Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS112661" }, { "@id": "http://reg.genome.network/allele/PA891863965", "coordinates": [ { "allele": "T", "end": 2698, "referenceAllele": "C", "start": 2697 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "NM_015202.3:c.2674C>T" ], "proteinEffect": { "hgvs": "NP_056017.3:p.Gln892Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS525665" }, { "coordinates": [ { "allele": "T", "end": 2900, "referenceAllele": "C", "start": 2899 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255201.3:c.2857C>T" ], "proteinEffect": { "hgvs": "XP_005255258.1:p.Gln953Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534239" }, { "coordinates": [ { "allele": "T", "end": 2846, "referenceAllele": "C", "start": 2845 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255202.3:c.2803C>T" ], "proteinEffect": { "hgvs": "XP_005255259.1:p.Gln935Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534240" }, { "coordinates": [ { "allele": "T", "end": 2771, "referenceAllele": "C", "start": 2770 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255203.3:c.2728C>T" ], "proteinEffect": { "hgvs": "XP_005255260.1:p.Gln910Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534241" }, { "coordinates": [ { "allele": "T", "end": 2900, "referenceAllele": "C", "start": 2899 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_005255206.3:c.2857C>T" ], "proteinEffect": { "hgvs": "XP_005255263.1:p.Gln953Ter", "hgvsWellDefined": 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"coordinates": [ { "allele": "T", "end": 2639, "referenceAllele": "C", "start": 2638 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_006721025.3:c.2596C>T" ], "proteinEffect": { "hgvs": "XP_006721088.1:p.Gln866Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS540221" }, { "coordinates": [ { "allele": "T", "end": 2870, "referenceAllele": "C", "start": 2869 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545773.2:c.2779C>T" ], "proteinEffect": { "hgvs": "XP_011544075.1:p.Gln927Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS556233" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "C", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545774.2:c.2779C>T" ], "proteinEffect": { "hgvs": "XP_011544076.1:p.Gln927Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS556234" }, { "coordinates": [ { "allele": "T", "end": 2780, "referenceAllele": "C", "start": 2779 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545775.2:c.2737C>T" ], "proteinEffect": { "hgvs": "XP_011544077.1:p.Gln913Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS556235" }, { "coordinates": [ { "allele": "T", "end": 2768, "referenceAllele": "C", "start": 2767 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545776.2:c.2725C>T" ], "proteinEffect": { "hgvs": "XP_011544078.1:p.Gln909Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS556236" }, { "coordinates": [ { "allele": "T", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_011545777.2:c.778C>T" ], "proteinEffect": { "hgvs": "XP_011544079.1:p.Gln260Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS556237" }, { "coordinates": [ { "allele": "T", "end": 2651, "referenceAllele": "C", "start": 2650 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_017023085.1:c.2608C>T" ], "proteinEffect": { "hgvs": "XP_016878574.1:p.Gln870Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573902" }, { "coordinates": [ { "allele": "T", "end": 2651, "referenceAllele": "C", "start": 2650 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_017023086.1:c.2596C>T" ], "proteinEffect": { "hgvs": "XP_016878575.1:p.Gln866Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573903" }, { "coordinates": [ { "allele": "T", "end": 2585, "referenceAllele": "C", "start": 2584 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_017023087.1:c.2542C>T" ], "proteinEffect": { "hgvs": "XP_016878576.1:p.Gln848Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573904" }, { "coordinates": [ { "allele": "T", "end": 2372, "referenceAllele": "C", "start": 2371 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_017023088.1:c.1552C>T" ], "proteinEffect": { "hgvs": "XP_016878577.1:p.Gln518Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573905" }, { "coordinates": [ { "allele": "T", "end": 2714, "referenceAllele": "C", "start": 2713 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_024450216.1:c.2671C>T" ], "proteinEffect": { "hgvs": "XP_024305984.1:p.Gln891Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS583757" }, { "coordinates": [ { "allele": "T", "end": 2773, "referenceAllele": "C", "start": 2772 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "XM_024450217.1:c.2191C>T" ], "proteinEffect": { "hgvs": "XP_024305985.1:p.Gln731Ter", "hgvsWellDefined": "XP_024305985.1:p.Gln731_Cys1457delinsGluHisThrLeuHisGluSerTrpSerSerLeuSerAlaPheAspArgSerHisArgGlyArgIleSerAsnThrGluLeuProGlyAspIleLeuAspGluLeuLeuGlnGlnLysSerSerArgHisSerAspLeuProProSerLysLysGlyGluGlnProGlyLeuSerArgGlyGlnAspGlyTyrSerGlyGluThrAspAlaGlyGlyAspPheLysIleProValLeuProTyrGlyGlnArgLeuValIleAspIleLysSerThrTrpGlyAspArgHisTyrValGlyLeuAsnGlyIleGluIlePheSerSerLysGlyGluProValGlnIleSerAsnIleLysAlaAspProProAspIleAsnIleLeuProAlaTyrGlyLysAspProArgValValThrAsnLeuIleAspGlyValAsnArgThrGlnAspAspMetHisValTrpLeuAlaProPheThrArgGlyArgSerHisSerIleThrIleAspPheThrHisProCysHisValAlaLeuIleArgIleTrpAsnTyrAsnLysSerArgIleHisSerPheArgGlyValLysAspIleThrMetLeuLeuAspThrGlnCysIlePheGluGlyGluIleAlaLysAlaSerGlyThrLeuAlaGlyAlaProGluHisPheGlyAspThrIleLeuPheThrThrAspAspAspIleLeuGluAlaIlePheTyrSerAspGluMetPheAspLeuAspValGlySerLeuAspSerLeuGlnAspGluGluAlaMetArgArgProSerThrAlaAspGlyGluGlyAspGluArgProPheThrGlnAlaGlyLeuGlyAlaAspGluArgIleProGluLeuGluLeuProSerSerSerProValProGlnValThrThrProGluProGlyIleTyrHisGlyIleCysLeuGlnLeuAsnPheThrAlaSerTrpGlyAspLeuHisTyrLeuGlyLeuThrGlyLeuGluValValGlyLysGluGlyGlnAlaLeuProIleHisLeuHisGlnIleSerAlaSerProArgAspLeuAsnGluLeuProGluTyrSerAspAspSerArgAlaLeuAspLysLeuIleAspGlyThrAsnIleThrMetGluAspGluHisMetTrpLeuIleProPheSerProGlyLeuAspHisValValThrIleArgLeuAspArgAlaGluSerIleAlaGlyLeuArgPheTrpAsnTyrAsnLysSerProGluAspThrTyrArgGlyAlaLysIleValHisValSerLeuAspGlyLeuCysValSerProProGluGlyPheLeuIleArgLysGlyProGlyAsnCysHisPheAspPheAlaGlnGluIleLeuPheValAspTyrLeuArgAlaGlnLeuLeuProGlnProAlaArgArgLeuAspMetArgSerLeuGluCysAlaSerMetAspTyrGluAlaProLeuMetProCysGlyPheIlePheGlnPheGlnLeuLeuThrSerTrpGlyAspProTyrTyrIleGlyLeuThrGlyLeuGluLeuTyrAspGluArgGlyGluLysIleProLeuSerGluAsnAsnIleAlaAlaPheProAspSerValAsnSerLeuGluGlyValGlyGlyAspValArgThrProAspLysLeuIleAspGlnValAsnAspThrSerAspGlyArgHisMetTrpLeuAlaProIleLeuProGlyLeuValAsnArgValTyrValIlePheAspLeuProThrThrValSerMetIleLysLeuTrpAsnTyrAlaLysThrProHisArgGlyValLysGluPheGlyLeuLeuValAspAspLeuLeuValTyrAsnGlyIleLeuAlaMetValSerHisLeuValGlyGlyIleLeuProThrCysGluProThrValProTyrHisThrIleLeuPheThrGluAspArgAspIleArgHisGlnGluLysHisThrThrIleSerAsnGlnAlaGluAspGlnAspValGlnMetMetAsnGluAsnGlnIleIleThrAsnAlaLysArgLysGlnSerValValAspProAlaLeuArgProLysThrCysIleSerGluLysGluThrArgArgArgArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583758" }, { "@id": "http://reg.genome.network/allele/PA891863965", "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "NM_015202.4:c.2674C>T" ], "proteinEffect": { "hgvs": "NP_056017.3:p.Gln892Ter", "hgvsWellDefined": "NP_056017.3:p.Gln892_Cys1618delinsGluHisThrLeuHisGluSerTrpSerSerLeuSerAlaPheAspArgSerHisArgGlyArgIleSerAsnThrGluLeuProGlyAspIleLeuAspGluLeuLeuGlnGlnLysSerSerArgHisSerAspLeuProProSerLysLysGlyGluGlnProGlyLeuSerArgGlyGlnAspGlyTyrSerGlyGluThrAspAlaGlyGlyAspPheLysIleProValLeuProTyrGlyGlnArgLeuValIleAspIleLysSerThrTrpGlyAspArgHisTyrValGlyLeuAsnGlyIleGluIlePheSerSerLysGlyGluProValGlnIleSerAsnIleLysAlaAspProProAspIleAsnIleLeuProAlaTyrGlyLysAspProArgValValThrAsnLeuIleAspGlyValAsnArgThrGlnAspAspMetHisValTrpLeuAlaProPheThrArgGlyArgSerHisSerIleThrIleAspPheThrHisProCysHisValAlaLeuIleArgIleTrpAsnTyrAsnLysSerArgIleHisSerPheArgGlyValLysAspIleThrMetLeuLeuAspThrGlnCysIlePheGluGlyGluIleAlaLysAlaSerGlyThrLeuAlaGlyAlaProGluHisPheGlyAspThrIleLeuPheThrThrAspAspAspIleLeuGluAlaIlePheTyrSerAspGluMetPheAspLeuAspValGlySerLeuAspSerLeuGlnAspGluGluAlaMetArgArgProSerThrAlaAspGlyGluGlyAspGluArgProPheThrGlnAlaGlyLeuGlyAlaAspGluArgIleProGluLeuGluLeuProSerSerSerProValProGlnValThrThrProGluProGlyIleTyrHisGlyIleCysLeuGlnLeuAsnPheThrAlaSerTrpGlyAspLeuHisTyrLeuGlyLeuThrGlyLeuGluValValGlyLysGluGlyGlnAlaLeuProIleHisLeuHisGlnIleSerAlaSerProArgAspLeuAsnGluLeuProGluTyrSerAspAspSerArgThrLeuAspLysLeuIleAspGlyThrAsnIleThrMetGluAspGluHisMetTrpLeuIleProPheSerProGlyLeuAspHisValValThrIleArgLeuAspArgAlaGluSerIleAlaGlyLeuArgPheTrpAsnTyrAsnLysSerProGluAspThrTyrArgGlyAlaLysIleValHisValSerLeuAspGlyLeuCysValSerProProGluGlyPheLeuIleArgLysGlyProGlyAsnCysHisPheAspPheAlaGlnGluIleLeuPheValAspTyrLeuArgAlaGlnLeuLeuProGlnProAlaArgArgLeuAspMetArgSerLeuGluCysAlaSerMetAspTyrGluAlaProLeuMetProCysGlyPheIlePheGlnPheGlnLeuLeuThrSerTrpGlyAspProTyrTyrIleGlyLeuThrGlyLeuGluLeuTyrAspGluArgGlyGluLysIleProLeuSerGluAsnAsnIleAlaAlaPheProAspSerValAsnSerLeuGluGlyValGlyGlyAspValArgThrProAspLysLeuIleAspGlnValAsnAspThrSerAspGlyArgHisMetTrpLeuAlaProIleLeuProGlyLeuValAsnArgValTyrValIlePheAspLeuProThrThrValSerMetIleLysLeuTrpAsnTyrAlaLysThrProHisArgGlyValLysGluPheGlyLeuLeuValAspAspLeuLeuValTyrAsnGlyIleLeuAlaMetValSerHisLeuValGlyGlyIleLeuProThrCysGluProThrValProTyrHisThrIleLeuPheThrGluAspArgAspIleArgHisGlnGluLysHisThrThrIleSerAsnGlnAlaGluAspGlnAspValGlnMetMetAsnGluAsnGlnIleIleThrAsnAlaLysArgLysGlnSerValValAspProAlaLeuArgProLysThrCysIleSerGluLysGluThrArgArgArgArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668679" }, { "@id": "http://reg.genome.network/allele/PA2573091555", "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN029068", "geneNCBI_id": 23247, "geneSymbol": "KATNIP", "hgvs": [ "NM_015202.5:c.2674C>T" ], "proteinEffect": { "hgvs": "NP_056017.4:p.Gln892Ter", "hgvsWellDefined": "NP_056017.4:p.Gln892_Cys1618delinsGluHisThrLeuHisGluSerTrpSerSerLeuSerAlaPheAspArgSerHisArgGlyArgIleSerAsnThrGluLeuProGlyAspIleLeuAspGluLeuLeuGlnGlnLysSerSerArgHisSerAspLeuProProSerLysLysGlyGluGlnProGlyLeuSerArgGlyGlnAspGlyTyrSerGlyGluThrAspAlaGlyGlyAspPheLysIleProValLeuProTyrGlyGlnArgLeuValIleAspIleLysSerThrTrpGlyAspArgHisTyrValGlyLeuAsnGlyIleGluIlePheSerSerLysGlyGluProValGlnIleSerAsnIleLysAlaAspProProAspIleAsnIleLeuProAlaTyrGlyLysAspProArgValValThrAsnLeuIleAspGlyValAsnArgThrGlnAspAspMetHisValTrpLeuAlaProPheThrArgGlyArgSerHisSerIleThrIleAspPheThrHisProCysHisValAlaLeuIleArgIleTrpAsnTyrAsnLysSerArgIleHisSerPheArgGlyValLysAspIleThrMetLeuLeuAspThrGlnCysIlePheGluGlyGluIleAlaLysAlaSerGlyThrLeuAlaGlyAlaProGluHisPheGlyAspThrIleLeuPheThrThrAspAspAspIleLeuGluAlaIlePheTyrSerAspGluMetPheAspLeuAspValGlySerLeuAspSerLeuGlnAspGluGluAlaMetArgArgProSerThrAlaAspGlyGluGlyAspGluArgProPheThrGlnAlaGlyLeuGlyAlaAspGluArgIleProGluLeuGluLeuProSerSerSerProValProGlnValThrThrProGluProGlyIleTyrHisGlyIleCysLeuGlnLeuAsnPheThrAlaSerTrpGlyAspLeuHisTyrLeuGlyLeuThrGlyLeuGluValValGlyLysGluGlyGlnAlaLeuProIleHisLeuHisGlnIleSerAlaSerProArgAspLeuAsnGluLeuProGluTyrSerAspAspSerArgAlaLeuAspLysLeuIleAspGlyThrAsnIleThrMetGluAspGluHisMetTrpLeuIleProPheSerProGlyLeuAspHisValValThrIleArgLeuAspArgAlaGluSerIleAlaGlyLeuArgPheTrpAsnTyrAsnLysSerProGluAspThrTyrArgGlyAlaLysIleValHisValSerLeuAspGlyLeuCysValSerProProGluGlyPheLeuIleArgLysGlyProGlyAsnCysHisPheAspPheAlaGlnGluIleLeuPheValAspTyrLeuArgAlaGlnLeuLeuProGlnProAlaArgArgLeuAspMetArgSerLeuGluCysAlaSerMetAspTyrGluAlaProLeuMetProCysGlyPheIlePheGlnPheGlnLeuLeuThrSerTrpGlyAspProTyrTyrIleGlyLeuThrGlyLeuGluLeuTyrAspGluArgGlyGluLysIleProLeuSerGluAsnAsnIleAlaAlaPheProAspSerValAsnSerLeuGluGlyValGlyGlyAspValArgThrProAspLysLeuIleAspGlnValAsnAspThrSerAspGlyArgHisMetTrpLeuAlaProIleLeuProGlyLeuValAsnArgValTyrValIlePheAspLeuProThrThrValSerMetIleLysLeuTrpAsnTyrAlaLysThrProHisArgGlyValLysGluPheGlyLeuLeuValAspAspLeuLeuValTyrAsnGlyIleLeuAlaMetValSerHisLeuValGlyGlyIleLeuProThrCysGluProThrValProTyrHisThrIleLeuPheThrGluAspArgAspIleArgHisGlnGluLysHisThrThrIleSerAsnGlnAlaGluAspGlnAspValGlnMetMetAsnGluAsnGlnIleIleThrAsnAlaLysArgLysGlnSerValValAspProAlaLeuArgProLysThrCysIleSerGluLysGluThrArgArgArgArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728043", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261588.10:c.2674C>T" }, "RefSeq": { "hgvs": "NM_015202.5:c.2674C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261588.4:p.Gln892Ter" }, "RefSeq": { "hgvs": "NP_056017.4:p.Gln892Ter" } } } } ], "type": "nucleotide" }