{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374218569", "communityStandardTitle": [ "NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=569366[alleleid]", "alleleId": 569366, "preferredName": "NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571622", "RCV": [ "RCV000692814" ], "variationId": 571622 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.101552521G>A?assembly=hg19", "id": "chr9:g.101552521G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98790239G>A?assembly=hg38", "id": "chr9:g.98790239G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/756090222", "rs": 756090222 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98790239, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262947" }, { "coordinates": [ { "allele": "T", "end": 282, "endIntronDirection": "-", "endIntronOffset": 5362, "referenceAllele": "C", "start": 282, "startIntronDirection": "-", "startIntronOffset": 5363 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "ENST00000375019.6:c.-41-5363C>T" ], "proteinEffect": { "hgvs": "ENSP00000364159.2:n.-41-5363C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS270522" }, { "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "ENST00000466120.1:n.258C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS309567" }, { "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 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"NP_775822.3:p.Gln243_Ala871delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042906" }, { "@id": "http://reg.genome.network/allele/PA891858764", "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "NM_173551.4:c.727C>T" ], "proteinEffect": { "hgvs": "NP_775822.3:p.Gln243Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS042907" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_005251793.3:c.727C>T" ], "proteinEffect": { "hgvs": "XP_005251850.1:p.Gln243Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS059676" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_005251794.3:c.727C>T" ], "proteinEffect": { "hgvs": "XP_005251851.1:p.Gln243Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS059677" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_006716998.2:c.727C>T" ], "proteinEffect": { "hgvs": "XP_006717061.1:p.Gln243Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS071943" }, { "coordinates": [ { "allele": "T", "end": 1850, "referenceAllele": "C", "start": 1849 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_006716999.2:c.553C>T" ], "proteinEffect": { "hgvs": "XP_006717062.1:p.Gln185Ter", "hgvsWellDefined": "XP_006717062.1:p.Gln185_Arg828delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071944" }, { "coordinates": [ { "allele": "T", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_011518356.1:c.727C>T" ], "proteinEffect": { "hgvs": "XP_011516658.1:p.Gln243Ter", "hgvsWellDefined": "XP_011516658.1:p.Gln243_His819delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluSerValSerValSerCysValValArgGluMetArgTrpThrTrpLysArgSerSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085530" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_242576.3:n.765C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116306" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_428520.2:n.766C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118089" }, { "coordinates": [ { "allele": "T", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_929736.1:n.766C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125865" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_005251793.4:c.727C>T" ], "proteinEffect": { "hgvs": "XP_005251850.1:p.Gln243Ter", "hgvsWellDefined": "XP_005251850.1:p.Gln243_Arg886delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533670" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_005251794.4:c.727C>T" ], "proteinEffect": { "hgvs": "XP_005251851.1:p.Gln243Ter", "hgvsWellDefined": "XP_005251851.1:p.Gln243_Arg885delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533671" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_006716998.3:c.727C>T" ], "proteinEffect": { "hgvs": "XP_006717061.1:p.Gln243Ter", "hgvsWellDefined": "XP_006717061.1:p.Gln243_Ala872delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539302" }, { "coordinates": [ { "allele": "T", "end": 2448, "referenceAllele": "C", "start": 2447 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_006716999.3:c.553C>T" ], "proteinEffect": { "hgvs": "XP_006717062.1:p.Gln185Ter", "hgvsWellDefined": "XP_006717062.1:p.Gln185_Arg828delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539303" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_017014445.1:c.727C>T" ], "proteinEffect": { "hgvs": "XP_016869934.1:p.Gln243Ter", "hgvsWellDefined": "XP_016869934.1:p.Gln243_Ala871delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567412" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_024447445.1:c.445C>T" ], "proteinEffect": { "hgvs": "XP_024303213.1:p.Gln149Ter", "hgvsWellDefined": "XP_024303213.1:p.Gln149_Arg792delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581027" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_024447447.1:c.142C>T" ], "proteinEffect": { "hgvs": "XP_024303215.1:p.Gln48Ter", "hgvsWellDefined": "XP_024303215.1:p.Gln48_Arg691delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581029" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_428520.3:n.765C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606565" }, { "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_929736.2:n.765C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609272" }, { "@id": "http://reg.genome.network/allele/PA891858764", "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "NM_173551.5:c.727C>T" ], "proteinEffect": { "hgvs": "NP_775822.3:p.Gln243Ter", "hgvsWellDefined": "NP_775822.3:p.Gln243_Ala871delinsLeuValGluLysGlyAlaAsnProAspHisLeuSerValLeuGluLysThrAlaPheGluValAlaLeuAspCysLysHisArgAspLeuValAspTyrLeuAspProLeuThrThrValArgProLysThrAspGluGluLysArgArgProAspIlePheHisAlaLeuLysMetGlyAsnPheGlnLeuValLysGluIleAlaAspGluAspProSerHisValAsnLeuValAsnGlyAspGlyAlaThrProLeuMetLeuAlaAlaValThrGlyGlnLeuAlaLeuValGlnLeuLeuValGluArgHisAlaAspValAspLysGlnAspSerValHisGlyTrpThrAlaLeuMetGlnAlaThrTyrHisGlyAsnLysGluIleValLysTyrLeuLeuAsnGlnGlyAlaAspValThrLeuArgAlaLysAsnGlyTyrThrAlaPheAspLeuValMetLeuLeuAsnAspProAspThrGluLeuValArgLeuLeuAlaSerValCysMetGlnValAsnLysAspLysGlyArgProSerHisGlnProProLeuProHisSerLysValArgGlnProTrpSerIleProValLeuProAspAspLysGlyGlyLeuLysSerTrpTrpAsnArgMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672670", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000353234.5:c.727C>T" }, "RefSeq": { "hgvs": "NM_173551.5:c.727C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000297837.6:p.Gln243Ter" }, "RefSeq": { "hgvs": "NP_775822.3:p.Gln243Ter" } } } } ], "type": "nucleotide" }