{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5153517", "communityStandardTitle": [ "NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=563458[alleleid]", "alleleId": 563458, "preferredName": "NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/579608", "RCV": [ "RCV000702944" ], "variationId": 579608 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-101540694-G-A", "id": "9-101540694-G-A", "variant": "9:101540694 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.101540694G>A?assembly=hg19", "id": "chr9:g.101540694G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98778412G>A?assembly=hg38", "id": "chr9:g.98778412G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/369437168", "rs": 369437168 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-101540694-G-A?dataset=gnomad_r2_1", "id": "9-101540694-G-A", "variant": "9:101540694 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98778412-G-A?dataset=gnomad_r3", "id": "9-98778412-G-A", "variant": "9:98778412 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98778412-G-A?dataset=gnomad_r4", "id": "9-98778412-G-A", "variant": "9:98778412 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98778412, "referenceAllele": "G", "start": 98778411 } ], "hgvs": [ "NC_000009.12:g.98778412G>A", "CM000671.2:g.98778412G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 101540694, "referenceAllele": "G", "start": 101540693 } ], "hgvs": [ "NC_000009.11:g.101540694G>A", "CM000671.1:g.101540694G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 100580515, "referenceAllele": "G", "start": 100580514 } ], "hgvs": [ "NC_000009.10:g.100580515G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 23131, "referenceAllele": "C", "start": 23130 } ], "hgvs": [ "NG_042237.1:g.23131C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005970" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "ENST00000353234.5:c.1381C>T" ], "proteinEffect": { "hgvs": "ENSP00000297837.6:p.Arg461Ter", "hgvsWellDefined": "ENSP00000297837.6:p.Arg461_Ala871delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748515", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000353234.5:c.1381C>T" }, "RefSeq": { "hgvs": "NM_173551.5:c.1381C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000297837.6:p.Arg461Ter" }, "RefSeq": { "hgvs": "NP_775822.3:p.Arg461Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1429, "referenceAllele": "C", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "ENST00000353234.4:c.1381C>T" ], "proteinEffect": { "hgvs": "ENSP00000297837.6:p.Arg461Ter", "hgvsWellDefined": "ENSP00000297837.6:p.Arg461_Ala871delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262947" }, { "coordinates": [ { "allele": "T", "end": 801, "referenceAllele": "C", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "ENST00000375019.6:c.478C>T" ], "proteinEffect": { "hgvs": "ENSP00000364159.2:p.Arg160Ter", "hgvsWellDefined": "ENSP00000364159.2:p.Arg160_Arg584delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270522" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "ENST00000634393.1:n.481C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407806" }, { "@id": "http://reg.genome.network/allele/PA891858769", "coordinates": [ { "allele": "T", "end": 1402, "referenceAllele": "C", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "NM_173551.3:c.1381C>T" ], "proteinEffect": { "hgvs": "NP_775822.3:p.Arg461Ter", "hgvsWellDefined": "NP_775822.3:p.Arg461_Ala871delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042906" }, { "@id": "http://reg.genome.network/allele/PA891858769", "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "NM_173551.4:c.1381C>T" ], "proteinEffect": { "hgvs": "NP_775822.3:p.Arg461Ter", "hgvsWellDefined": "NP_775822.3:p.Arg461_Ala871delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042907" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_005251793.3:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_005251850.1:p.Arg461Ter", "hgvsWellDefined": "XP_005251850.1:p.Arg461_Arg886delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059676" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_005251794.3:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_005251851.1:p.Arg461Ter", "hgvsWellDefined": "XP_005251851.1:p.Arg461_Arg885delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059677" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_006716998.2:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_006717061.1:p.Arg461Ter", "hgvsWellDefined": "XP_006717061.1:p.Arg461_Ala872delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071943" }, { "coordinates": [ { "allele": "T", "end": 2504, "referenceAllele": "C", "start": 2503 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_006716999.2:c.1207C>T" ], "proteinEffect": { "hgvs": "XP_006717062.1:p.Arg403Ter", "hgvsWellDefined": "XP_006717062.1:p.Arg403_Arg828delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071944" }, { "coordinates": [ { "allele": "T", "end": 1421, "referenceAllele": "C", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_011518356.1:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_011516658.1:p.Arg461Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS085530" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_011518357.1:c.391C>T" ], "proteinEffect": { "hgvs": "XP_011516659.1:p.Arg131Ter", "hgvsWellDefined": "XP_011516659.1:p.Arg131_Arg556delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085531" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_242576.3:n.1419C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116306" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_428520.2:n.1420C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118089" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_929736.1:n.1420C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125865" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_929737.1:n.486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125866" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_005251793.4:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_005251850.1:p.Arg461Ter", "hgvsWellDefined": "XP_005251850.1:p.Arg461_Arg886delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533670" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_005251794.4:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_005251851.1:p.Arg461Ter", "hgvsWellDefined": "XP_005251851.1:p.Arg461_Arg885delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533671" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_006716998.3:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_006717061.1:p.Arg461Ter", "hgvsWellDefined": "XP_006717061.1:p.Arg461_Ala872delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539302" }, { "coordinates": [ { "allele": "T", "end": 3102, "referenceAllele": "C", "start": 3101 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_006716999.3:c.1207C>T" ], "proteinEffect": { "hgvs": "XP_006717062.1:p.Arg403Ter", "hgvsWellDefined": "XP_006717062.1:p.Arg403_Arg828delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539303" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_017014445.1:c.1381C>T" ], "proteinEffect": { "hgvs": "XP_016869934.1:p.Arg461Ter", "hgvsWellDefined": "XP_016869934.1:p.Arg461_Ala871delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567412" }, { "coordinates": [ { "allele": "T", "end": 213, "referenceAllele": "C", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_017014447.1:c.130C>T" ], "proteinEffect": { "hgvs": "XP_016869936.1:p.Arg44Ter", "hgvsWellDefined": "XP_016869936.1:p.Arg44_Arg469delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567413" }, { "coordinates": [ { "allele": "T", "end": 2103, "referenceAllele": "C", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_024447445.1:c.1099C>T" ], "proteinEffect": { "hgvs": "XP_024303213.1:p.Arg367Ter", "hgvsWellDefined": "XP_024303213.1:p.Arg367_Arg792delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581027" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XM_024447447.1:c.796C>T" ], "proteinEffect": { "hgvs": "XP_024303215.1:p.Arg266Ter", "hgvsWellDefined": "XP_024303215.1:p.Arg266_Arg691delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysGlnLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProSerMetValGlyTrpValArgProGluGluThrAlaSerGlyLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581029" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_001746230.1:n.486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594584" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_428520.3:n.1419C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606565" }, { "coordinates": [ { "allele": "T", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "XR_929736.2:n.1419C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609272" }, { "@id": "http://reg.genome.network/allele/PA891858769", "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN026724", "geneNCBI_id": 203286, "geneSymbol": "ANKS6", "hgvs": [ "NM_173551.5:c.1381C>T" ], "proteinEffect": { "hgvs": "NP_775822.3:p.Arg461Ter", "hgvsWellDefined": "NP_775822.3:p.Arg461_Ala871delinsMetSerAsnArgPheArgLysLeuLysLeuMetGlnThrLeuProArgGlyLeuSerSerAsnGlnProLeuProPheSerAspGluProGluProAlaLeuAspSerThrMetArgAlaAlaProGlnAspLysThrSerArgSerAlaLeuProAspAlaAlaProValThrLysAspAsnGlyProGlySerThrArgGlyGluLysGluAspThrLeuLeuThrThrMetLeuArgAsnGlyAlaProLeuThrArgLeuProSerAspLysLeuLysAlaValIleProProPheLeuProProSerSerPheGluLeuTrpSerSerAspArgSerArgThrArgHisAsnGlyLysAlaAspProMetLysThrAlaLeuProGlnArgAlaSerArgGlyHisProValGlyGlyGlyGlyThrAspThrThrProValArgProValLysPheProSerLeuProArgSerProAlaSerSerAlaAsnSerGlyAsnPheAsnHisSerProHisSerSerGlyGlySerSerGlyValGlyValSerArgHisGlyGlyGluLeuLeuAsnArgSerGlyGlySerIleAspAsnValLeuSerGlnIleAlaAlaGlnArgLysLysAlaAlaGlyLeuLeuGluGlnLysProSerHisArgSerSerProValGlyProAlaProGlySerSerProSerGluLeuProAlaSerProAlaGlyGlySerAlaProValGlyLysLysLeuGluThrSerLysArgProProSerGlyThrSerThrThrSerLysSerThrSerProThrLeuThrProSerProSerProLysGlyHisThrAlaGluSerSerValSerSerSerSerSerHisArgGlnSerLysSerSerGlyGlySerSerSerGlyThrIleThrAspGluAspGluLeuThrGlyIleLeuLysLysLeuSerLeuGluLysTyrGlnProIlePheGluGluGlnGluValAspMetGluAlaPheLeuThrLeuThrAspGlyAspLeuLysGluLeuGlyIleLysThrAspGlySerArgGlnGlnIleLeuAlaAlaIleSerGluLeuAsnAlaGlyLysGlyArgGluArgGlnIleLeuGlnGluThrIleHisAsnPheHisSerSerPheGluSerSerAlaSerAsnThrArgAlaProGlyAsnSerProCysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672670", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000353234.5:c.1381C>T" }, "RefSeq": { "hgvs": "NM_173551.5:c.1381C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000297837.6:p.Arg461Ter" }, "RefSeq": { "hgvs": "NP_775822.3:p.Arg461Ter" } } } } ], "type": "nucleotide" }