{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397153860", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2994959[alleleid]", "alleleId": 2994959, "preferredName": "NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2832575", "RCV": [ "RCV003641714" ], "variationId": 2832575 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89347426T>A?assembly=hg19", "id": "chr16:g.89347426T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89281018T>A?assembly=hg38", "id": "chr16:g.89281018T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2544227565", "rs": 2544227565 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 89281018, "referenceAllele": "T", "start": 89281017 } ], "hgvs": [ "NC_000016.10:g.89281018T>A", "CM000678.2:g.89281018T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 89347426, "referenceAllele": "T", "start": 89347425 } ], "hgvs": [ "NC_000016.9:g.89347426T>A", "CM000678.1:g.89347426T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 87874927, "referenceAllele": "T", "start": 87874926 } ], "hgvs": [ "NC_000016.8:g.87874927T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 214544, "referenceAllele": "A", "start": 214543 } ], "hgvs": [ "NG_032003.1:g.214544A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005088" }, { "coordinates": [ { "allele": "T", "end": 214544, "referenceAllele": "A", "start": 214543 } ], "hgvs": [ "NG_032003.2:g.214544A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5985, "referenceAllele": "A", "start": 5984 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.10:c.5524A>T" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Lys1842Ter", "hgvsWellDefined": 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"ENSP00000367581.2:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "T", "end": 5900, "referenceAllele": "A", "start": 5899 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.5524A>T" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "T", "end": 744, "endIntronDirection": "-", "endIntronOffset": 5826, "referenceAllele": "A", "start": 744, "startIntronDirection": "-", "startIntronOffset": 5827 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.745-5827A>T" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.745-5827A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "T", "end": 5985, "referenceAllele": "A", "start": 5984 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.5524A>T" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Lys1842Ter", "hgvsWellDefined": "ENSP00000301030.4:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "T", "end": 5744, "referenceAllele": "A", "start": 5743 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*5327A>T" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5327A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "T", "end": 5813, "referenceAllele": "A", "start": 5812 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.5524A>T" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "T", "end": 151, "endIntronDirection": "-", "endIntronOffset": 5826, "referenceAllele": "A", "start": 151, "startIntronDirection": "-", "startIntronOffset": 5827 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.152-5827A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826374032", "coordinates": [ { "allele": "T", "end": 6056, "referenceAllele": "A", "start": 6055 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.5524A>T" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375884", "coordinates": [ { "allele": "T", "end": 5982, "referenceAllele": "A", "start": 5981 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.5524A>T" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA2741936597", "coordinates": [ { "allele": "T", "end": 5985, "referenceAllele": "A", "start": 5984 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.5524A>T" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "T", "end": 5762, "referenceAllele": "A", "start": 5761 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.5422A>T" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Lys1808Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "T", "end": 5800, "referenceAllele": "A", "start": 5799 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.5227A>T" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Lys1743Ter", "hgvsWellDefined": "XP_006721247.1:p.Lys1743_Ala2564delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "T", "end": 6042, "referenceAllele": "A", "start": 6041 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Lys1842Ter", "hgvsWellDefined": "XP_011521353.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "T", "end": 5747, "referenceAllele": "A", "start": 5746 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Lys1842Ter", "hgvsWellDefined": "XP_011521354.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "T", "end": 6180, "referenceAllele": "A", "start": 6179 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Lys1842Ter", "hgvsWellDefined": "XP_011521355.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "T", "end": 6095, "referenceAllele": "A", "start": 6094 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.5422A>T" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Lys1808Ter", "hgvsWellDefined": "XP_011521356.1:p.Lys1808_Ala2629delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "T", "end": 6368, "referenceAllele": "A", "start": 6367 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.5422A>T" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Lys1808Ter", "hgvsWellDefined": "XP_011521357.1:p.Lys1808_Ala2629delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "T", "end": 6117, "referenceAllele": "A", "start": 6116 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.5395A>T" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Lys1799Ter", "hgvsWellDefined": "XP_011521358.1:p.Lys1799_Ala2620delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "T", "end": 5997, "referenceAllele": "A", "start": 5996 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Lys1842Ter", "hgvsWellDefined": "XP_011521359.1:p.Lys1842_Pro2613delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "T", "end": 6046, "referenceAllele": "A", "start": 6045 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Lys1842Ter", "hgvsWellDefined": "XP_011521353.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "T", "end": 6151, "referenceAllele": "A", "start": 6150 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Lys1842Ter", "hgvsWellDefined": "XP_011521355.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "T", "end": 6065, "referenceAllele": "A", "start": 6064 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.5422A>T" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Lys1808Ter", "hgvsWellDefined": "XP_011521356.1:p.Lys1808_Ala2629delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "T", "end": 6350, "referenceAllele": "A", "start": 6349 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.5422A>T" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Lys1808Ter", "hgvsWellDefined": "XP_011521357.1:p.Lys1808_Ala2629delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "T", "end": 6087, "referenceAllele": "A", "start": 6086 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.5395A>T" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Lys1799Ter", "hgvsWellDefined": "XP_011521358.1:p.Lys1799_Ala2620delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "T", "end": 5968, "referenceAllele": "A", "start": 5967 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Lys1842Ter", "hgvsWellDefined": "XP_011521359.1:p.Lys1842_Pro2613delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "T", "end": 6532, "referenceAllele": "A", "start": 6531 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Lys1842Ter", "hgvsWellDefined": "XP_016878671.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "T", "end": 6154, "referenceAllele": "A", "start": 6153 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Lys1842Ter", "hgvsWellDefined": "XP_016878672.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "T", "end": 6151, "referenceAllele": "A", "start": 6150 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "T", "end": 5792, "referenceAllele": "A", "start": 5791 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "T", "end": 6528, "referenceAllele": "A", "start": 6527 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "T", "end": 5880, "referenceAllele": "A", "start": 5879 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.5524A>T" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Lys1842Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "T", "end": 6062, "referenceAllele": "A", "start": 6061 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.5422A>T" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Lys1808Ter", "hgvsWellDefined": "XP_024306012.1:p.Lys1808_Ala2629delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA2741936597", "coordinates": [ { "allele": "T", "end": 5985, "referenceAllele": "A", "start": 5984 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.5524A>T" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Lys1842Ter", "hgvsWellDefined": "NP_037407.4:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.5524A>T" }, "RefSeq": { "hgvs": "NM_013275.6:c.5524A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Lys1842Ter" }, "RefSeq": { "hgvs": "NP_037407.4:p.Lys1842Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826374032", "coordinates": [ { "allele": "T", "end": 6056, "referenceAllele": "A", "start": 6055 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.5524A>T" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Lys1842Ter", "hgvsWellDefined": "NP_001243111.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375884", "coordinates": [ { "allele": "T", "end": 5982, "referenceAllele": "A", "start": 5981 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.5524A>T" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Lys1842Ter", "hgvsWellDefined": "NP_001243112.1:p.Lys1842_Ala2663delinsPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }