{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA353445", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=225887[alleleid]", "alleleId": 225887, "preferredName": "NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224159", "RCV": [ "RCV000209927" ], "variationId": 224159 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89346478C>A?assembly=hg19", "id": "chr16:g.89346478C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89280070C>A?assembly=hg38", "id": "chr16:g.89280070C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/869312713", "rs": 869312713 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 89280070, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "T", "end": 744, "endIntronDirection": "-", "endIntronOffset": 4878, "referenceAllele": "G", "start": 744, "startIntronDirection": "-", "startIntronOffset": 4879 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.745-4879G>T" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.745-4879G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "T", "end": 6933, "referenceAllele": "G", "start": 6932 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.6472G>T" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Glu2158Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "T", "end": 6692, "referenceAllele": "G", "start": 6691 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*6275G>T" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*6275G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "T", "end": 6761, "referenceAllele": "G", "start": 6760 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.6472G>T" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Glu2158Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "T", "end": 151, "endIntronDirection": "-", "endIntronOffset": 4878, "referenceAllele": "G", "start": 151, "startIntronDirection": "-", "startIntronOffset": 4879 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.152-4879G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA353446", "coordinates": [ { "allele": "T", "end": 7004, "referenceAllele": "G", "start": 7003 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.6472G>T" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Glu2158Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826376203", "coordinates": [ { "allele": "T", "end": 6930, "referenceAllele": "G", "start": 6929 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.6472G>T" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Glu2158Ter", "hgvsWellDefined": "NP_001243112.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA916007622", "coordinates": [ { "allele": "T", "end": 6933, "referenceAllele": "G", "start": 6932 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.6472G>T" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Glu2158Ter", "hgvsWellDefined": "NP_037407.4:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "T", "end": 6710, "referenceAllele": "G", "start": 6709 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.6370G>T" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Glu2124Ter", "hgvsWellDefined": "XP_006721244.1:p.Glu2124_Ala2629delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "T", "end": 6748, "referenceAllele": "G", "start": 6747 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.6175G>T" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Glu2059Ter", "hgvsWellDefined": "XP_006721247.1:p.Glu2059_Ala2564delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "T", "end": 6990, "referenceAllele": "G", "start": 6989 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Glu2158Ter", "hgvsWellDefined": "XP_011521353.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "T", "end": 6695, "referenceAllele": "G", "start": 6694 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Glu2158Ter", "hgvsWellDefined": "XP_011521354.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "T", "end": 7128, "referenceAllele": "G", "start": 7127 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Glu2158Ter", "hgvsWellDefined": "XP_011521355.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "T", "end": 7043, "referenceAllele": "G", "start": 7042 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.6370G>T" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Glu2124Ter", "hgvsWellDefined": "XP_011521356.1:p.Glu2124_Ala2629delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "T", "end": 7316, "referenceAllele": "G", "start": 7315 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.6370G>T" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Glu2124Ter", "hgvsWellDefined": "XP_011521357.1:p.Glu2124_Ala2629delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "T", "end": 7065, "referenceAllele": "G", "start": 7064 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.6343G>T" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Glu2115Ter", "hgvsWellDefined": "XP_011521358.1:p.Glu2115_Ala2620delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "T", "end": 6945, "referenceAllele": "G", "start": 6944 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Glu2158Ter", "hgvsWellDefined": "XP_011521359.1:p.Glu2158_Pro2613delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "T", "end": 6994, "referenceAllele": "G", "start": 6993 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Glu2158Ter", "hgvsWellDefined": "XP_011521353.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "T", "end": 7099, "referenceAllele": "G", "start": 7098 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Glu2158Ter", "hgvsWellDefined": "XP_011521355.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "T", "end": 7013, "referenceAllele": "G", "start": 7012 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.6370G>T" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Glu2124Ter", "hgvsWellDefined": "XP_011521356.1:p.Glu2124_Ala2629delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "T", "end": 7298, "referenceAllele": "G", "start": 7297 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.6370G>T" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Glu2124Ter", "hgvsWellDefined": "XP_011521357.1:p.Glu2124_Ala2629delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "T", "end": 7035, "referenceAllele": "G", "start": 7034 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.6343G>T" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Glu2115Ter", "hgvsWellDefined": "XP_011521358.1:p.Glu2115_Ala2620delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "T", "end": 6916, "referenceAllele": "G", "start": 6915 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Glu2158Ter", "hgvsWellDefined": "XP_011521359.1:p.Glu2158_Pro2613delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "T", "end": 7480, "referenceAllele": "G", "start": 7479 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Glu2158Ter", "hgvsWellDefined": "XP_016878671.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "T", "end": 7102, "referenceAllele": "G", "start": 7101 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Glu2158Ter", "hgvsWellDefined": "XP_016878672.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "T", "end": 7099, "referenceAllele": "G", "start": 7098 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Glu2158Ter", "hgvsWellDefined": "XP_016878673.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "T", "end": 6740, "referenceAllele": "G", "start": 6739 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Glu2158Ter", "hgvsWellDefined": "XP_016878674.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "T", "end": 7476, "referenceAllele": "G", "start": 7475 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Glu2158Ter", "hgvsWellDefined": "XP_016878675.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "T", "end": 6828, "referenceAllele": "G", "start": 6827 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.6472G>T" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Glu2158Ter", "hgvsWellDefined": "XP_016878676.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "T", "end": 7010, "referenceAllele": "G", "start": 7009 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.6370G>T" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Glu2124Ter", "hgvsWellDefined": "XP_024306012.1:p.Glu2124_Ala2629delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA916007622", "coordinates": [ { "allele": "T", "end": 6933, "referenceAllele": "G", "start": 6932 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.6472G>T" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Glu2158Ter", "hgvsWellDefined": "NP_037407.4:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.6472G>T" }, "RefSeq": { "hgvs": "NM_013275.6:c.6472G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Glu2158Ter" }, "RefSeq": { "hgvs": "NP_037407.4:p.Glu2158Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA353446", "coordinates": [ { "allele": "T", "end": 7004, "referenceAllele": "G", "start": 7003 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.6472G>T" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Glu2158Ter", "hgvsWellDefined": "NP_001243111.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826376203", "coordinates": [ { "allele": "T", "end": 6930, "referenceAllele": "G", "start": 6929 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.6472G>T" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Glu2158Ter", "hgvsWellDefined": "NP_001243112.1:p.Glu2158_Ala2663delinsSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }