{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397154223", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980957[alleleid]", "alleleId": 980957, "preferredName": "NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/992980", "RCV": [ "RCV001283778" ], "variationId": 992980 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89347513G>A?assembly=hg19", "id": "chr16:g.89347513G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89281105G>A?assembly=hg38", "id": "chr16:g.89281105G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2034195603", "rs": 2034195603 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 89281105, "referenceAllele": "G", "start": 89281104 } ], "hgvs": [ "NC_000016.10:g.89281105G>A", "CM000678.2:g.89281105G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 89347513, "referenceAllele": "G", "start": 89347512 } ], "hgvs": [ "NC_000016.9:g.89347513G>A", "CM000678.1:g.89347513G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 87875014, "referenceAllele": "G", "start": 87875013 } ], "hgvs": [ "NC_000016.8:g.87875014G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 214457, "referenceAllele": "C", "start": 214456 } ], "hgvs": [ "NG_032003.1:g.214457C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005088" }, { "coordinates": [ { "allele": "T", "end": 214457, "referenceAllele": "C", "start": 214456 } ], "hgvs": [ "NG_032003.2:g.214457C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5898, "referenceAllele": "C", "start": 5897 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.10:c.5437C>T" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Gln1813Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS744803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.5437C>T" }, "RefSeq": { "hgvs": "NM_013275.6:c.5437C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Gln1813Ter" }, "RefSeq": { "hgvs": "NP_037407.4:p.Gln1813Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5750, "referenceAllele": "C", "start": 5749 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.10:c.*5240C>T" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5240C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS747095" }, { "coordinates": [ { "allele": "T", "end": 5728, "referenceAllele": "C", "start": 5727 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.7:c.5437C>T" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Gln1813Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "T", "end": 5813, "referenceAllele": "C", "start": 5812 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.5437C>T" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Gln1813Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "T", "end": 744, "endIntronDirection": "-", "endIntronOffset": 5913, "referenceAllele": "C", "start": 744, "startIntronDirection": "-", "startIntronOffset": 5914 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.745-5914C>T" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.745-5914C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "T", "end": 5898, "referenceAllele": "C", "start": 5897 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.5437C>T" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Gln1813Ter", "hgvsWellDefined": "ENSP00000301030.4:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "T", "end": 5657, "referenceAllele": "C", "start": 5656 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*5240C>T" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5240C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "T", "end": 5726, "referenceAllele": "C", "start": 5725 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.5437C>T" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Gln1813Ter", "hgvsWellDefined": "ENSP00000367581.2:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "T", "end": 151, "endIntronDirection": "-", "endIntronOffset": 5913, "referenceAllele": "C", "start": 151, "startIntronDirection": "-", "startIntronOffset": 5914 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.152-5914C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826374006", "coordinates": [ { "allele": "T", "end": 5969, "referenceAllele": "C", "start": 5968 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.5437C>T" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Gln1813Ter", "hgvsWellDefined": "NP_001243111.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375858", "coordinates": [ { "allele": "T", "end": 5895, "referenceAllele": "C", "start": 5894 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.5437C>T" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Gln1813Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA1139725439", "coordinates": [ { "allele": "T", "end": 5898, "referenceAllele": "C", "start": 5897 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.5437C>T" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Gln1813Ter", "hgvsWellDefined": "NP_037407.4:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "T", "end": 5675, "referenceAllele": "C", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.5335C>T" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Gln1779Ter", "hgvsWellDefined": "XP_006721244.1:p.Gln1779_Ala2629delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "T", "end": 5713, "referenceAllele": "C", "start": 5712 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.5140C>T" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Gln1714Ter", "hgvsWellDefined": "XP_006721247.1:p.Gln1714_Ala2564delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "T", "end": 5955, "referenceAllele": "C", "start": 5954 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Gln1813Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "T", "end": 5660, "referenceAllele": "C", "start": 5659 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Gln1813Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "T", "end": 6093, "referenceAllele": "C", "start": 6092 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Gln1813Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "T", "end": 6008, "referenceAllele": "C", "start": 6007 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.5335C>T" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Gln1779Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "T", "end": 6281, "referenceAllele": "C", "start": 6280 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.5335C>T" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Gln1779Ter", "hgvsWellDefined": "XP_011521357.1:p.Gln1779_Ala2629delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "T", "end": 6030, "referenceAllele": "C", "start": 6029 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.5308C>T" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Gln1770Ter", "hgvsWellDefined": "XP_011521358.1:p.Gln1770_Ala2620delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "T", "end": 5910, "referenceAllele": "C", "start": 5909 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Gln1813Ter", "hgvsWellDefined": "XP_011521359.1:p.Gln1813_Pro2613delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "T", "end": 5959, "referenceAllele": "C", "start": 5958 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Gln1813Ter", "hgvsWellDefined": "XP_011521353.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "T", "end": 6064, "referenceAllele": "C", "start": 6063 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Gln1813Ter", "hgvsWellDefined": "XP_011521355.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "T", "end": 5978, "referenceAllele": "C", "start": 5977 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.5335C>T" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Gln1779Ter", "hgvsWellDefined": "XP_011521356.1:p.Gln1779_Ala2629delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "T", "end": 6263, "referenceAllele": "C", "start": 6262 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.5335C>T" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Gln1779Ter", "hgvsWellDefined": "XP_011521357.1:p.Gln1779_Ala2629delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "T", "end": 6000, "referenceAllele": "C", "start": 5999 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.5308C>T" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Gln1770Ter", "hgvsWellDefined": "XP_011521358.1:p.Gln1770_Ala2620delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "T", "end": 5881, "referenceAllele": "C", "start": 5880 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Gln1813Ter", "hgvsWellDefined": "XP_011521359.1:p.Gln1813_Pro2613delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "T", "end": 6445, "referenceAllele": "C", "start": 6444 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Gln1813Ter", "hgvsWellDefined": "XP_016878671.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "T", "end": 6067, "referenceAllele": "C", "start": 6066 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Gln1813Ter", "hgvsWellDefined": "XP_016878672.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "T", "end": 6064, "referenceAllele": "C", "start": 6063 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Gln1813Ter", "hgvsWellDefined": "XP_016878673.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "T", "end": 5705, "referenceAllele": "C", "start": 5704 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Gln1813Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "T", "end": 6441, "referenceAllele": "C", "start": 6440 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Gln1813Ter", "hgvsWellDefined": "XP_016878675.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "T", "end": 5793, "referenceAllele": "C", "start": 5792 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.5437C>T" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Gln1813Ter", "hgvsWellDefined": "XP_016878676.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "T", "end": 5975, "referenceAllele": "C", "start": 5974 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.5335C>T" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Gln1779Ter", "hgvsWellDefined": "XP_024306012.1:p.Gln1779_Ala2629delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA1139725439", "coordinates": [ { "allele": "T", "end": 5898, "referenceAllele": "C", "start": 5897 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.5437C>T" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Gln1813Ter", "hgvsWellDefined": "NP_037407.4:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.5437C>T" }, "RefSeq": { "hgvs": "NM_013275.6:c.5437C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Gln1813Ter" }, "RefSeq": { "hgvs": "NP_037407.4:p.Gln1813Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826374006", "coordinates": [ { "allele": "T", "end": 5969, "referenceAllele": "C", "start": 5968 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.5437C>T" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Gln1813Ter", "hgvsWellDefined": "NP_001243111.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375858", "coordinates": [ { "allele": "T", "end": 5895, "referenceAllele": "C", "start": 5894 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.5437C>T" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Gln1813Ter", "hgvsWellDefined": "NP_001243112.1:p.Gln1813_Ala2663delinsSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }