{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA204583", "communityStandardTitle": [ "NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205165[alleleid]", "alleleId": 205165, "preferredName": "NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208618", "RCV": [ "RCV000190630", "RCV002517029" ], "variationId": 208618 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-97446263-G-A", "id": "10-97446263-G-A", "variant": "10:97446263 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.97446263G>A?assembly=hg19", "id": "chr10:g.97446263G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.95686506G>A?assembly=hg38", "id": "chr10:g.95686506G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/764091969", "rs": 764091969 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-97446263-G-A?dataset=gnomad_r2_1", "id": "10-97446263-G-A", "variant": "10:97446263 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-95686506-G-A?dataset=gnomad_r3", "id": "10-95686506-G-A", "variant": "10:95686506 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-95686506-G-A?dataset=gnomad_r4", "id": "10-95686506-G-A", "variant": "10:95686506 G / A" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 95686506, "referenceAllele": "G", "start": 95686505 } ], "hgvs": [ "NC_000010.11:g.95686506G>A", "CM000672.2:g.95686506G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 97446263, "referenceAllele": "G", "start": 97446262 } ], "hgvs": [ "NC_000010.10:g.97446263G>A", "CM000672.1:g.97446263G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 97436253, "referenceAllele": "G", "start": 97436252 } ], "hgvs": [ "NC_000010.9:g.97436253G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 12638, "referenceAllele": "C", "start": 12637 } ], "hgvs": [ "NG_032953.1:g.12638C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005310" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000371217.10:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000360261.5:p.Gln293Ter", "hgvsWellDefined": "ENSP00000360261.5:p.Gln293_Met607delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750748", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371217.10:c.877C>T" }, "RefSeq": { "hgvs": "NM_015631.6:c.877C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360261.5:p.Gln293Ter" }, "RefSeq": { "hgvs": "NP_056446.4:p.Gln293Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000614499.5:c.931C>T" ], "proteinEffect": { "hgvs": "ENSP00000483364.2:p.Gln311Ter", "hgvsWellDefined": "ENSP00000483364.2:p.Gln311_Met620delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761968" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000679485.1:n.901C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779116" }, { "coordinates": [ { "allele": "T", "end": 905, "endIntronDirection": "+", "endIntronOffset": 538, "referenceAllele": "C", "start": 905, "startIntronDirection": "+", "startIntronOffset": 537 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000679566.1:c.852+538C>T" ], "proteinEffect": { "hgvs": "ENSP00000505964.1:n.852+538C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779194" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000679984.1:c.*132C>T" ], "proteinEffect": { "hgvs": "ENSP00000504998.1:n.*132C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779606" }, { "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000680144.1:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000506398.1:p.Gln293Ter", "hgvsWellDefined": "ENSP00000506398.1:p.Gln293_Met575delinsAsnMetGluValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779764" }, { "coordinates": [ { "allele": "T", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000680353.1:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000505367.1:p.Gln293Ter", "hgvsWellDefined": "ENSP00000505367.1:p.Gln293_Met524delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779971" }, { "coordinates": [ { "allele": "T", "end": 542, "endIntronDirection": "-", "endIntronOffset": 1881, "referenceAllele": "C", "start": 542, "startIntronDirection": "-", "startIntronOffset": 1882 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000680697.1:n.543-1882C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780312" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000680709.1:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000505830.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000505830.1:p.Gln214_Met523delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780324" }, { "coordinates": [ { "allele": "T", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000681127.1:n.930C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780739" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000681739.1:n.932C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781342" }, { "coordinates": [ { "allele": "T", "end": 767, "endIntronDirection": "+", "endIntronOffset": 538, "referenceAllele": "C", "start": 767, "startIntronDirection": "+", "startIntronOffset": 537 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000681928.1:c.*130+538C>T" ], "proteinEffect": { "hgvs": "ENSP00000505552.1:n.*130+538C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781527" }, { "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000265993.13:c.931C>T" ], "proteinEffect": { "hgvs": "ENSP00000265993.9:p.Gln311Ter", "hgvsWellDefined": "ENSP00000265993.9:p.Gln311_Met625delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251861" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000371209.5:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000360253.5:p.Gln293Ter", "hgvsWellDefined": "ENSP00000360253.5:p.Gln293_Tyr443delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerValSerPheLeuGluLeuGlyGlyLeuLeuGlnProAsnGluLysSerCysLysGlyPheGlnThrTyrValArgLeuAlaLysGlyGluGluPhePheValHisTyrAsnGluValLeuIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268472" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000371217.9:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000360261.5:p.Gln293Ter", "hgvsWellDefined": "ENSP00000360261.5:p.Gln293_Met607delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268476" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000430368.6:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000387567.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000387567.1:p.Gln214_Met459delinsAsnMetGluAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS291111" }, { "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "ENST00000614499.4:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000483364.1:p.Gln293Ter", "hgvsWellDefined": "ENSP00000483364.1:p.Gln293_Met607delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402228" }, { "@id": "http://reg.genome.network/allele/PA2825860713", "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "NM_001143973.1:c.640C>T" ], "proteinEffect": { "hgvs": "NP_001137445.1:p.Gln214Ter", "hgvsWellDefined": "NP_001137445.1:p.Gln214_Met459delinsAsnMetGluAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013217" }, { "@id": "http://reg.genome.network/allele/PA204584", "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "NM_015631.5:c.877C>T" ], "proteinEffect": { "hgvs": "NP_056446.4:p.Gln293Ter", "hgvsWellDefined": "NP_056446.4:p.Gln293_Met607delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034151" }, { "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "XM_005269690.1:c.931C>T" ], "proteinEffect": { "hgvs": "XP_005269747.1:p.Gln311Ter", "hgvsWellDefined": "XP_005269747.1:p.Gln311_Met598delinsAsnMetGluValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066234" }, { "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "XM_011539627.1:c.931C>T" ], "proteinEffect": { "hgvs": "XP_011537929.1:p.Gln311Ter", "hgvsWellDefined": "XP_011537929.1:p.Gln311_Met620delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106577" }, { "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "XM_011539628.1:c.931C>T" ], "proteinEffect": { "hgvs": "XP_011537930.1:p.Gln311Ter", "hgvsWellDefined": "XP_011537930.1:p.Gln311_Met579delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106578" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "XM_005269690.2:c.931C>T" ], "proteinEffect": { "hgvs": "XP_005269747.1:p.Gln311Ter", "hgvsWellDefined": "XP_005269747.1:p.Gln311_Met598delinsAsnMetGluValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536803" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "XM_011539627.2:c.931C>T" ], "proteinEffect": { "hgvs": "XP_011537929.1:p.Gln311Ter", "hgvsWellDefined": "XP_011537929.1:p.Gln311_Met620delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553738" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "XM_011539628.2:c.931C>T" ], "proteinEffect": { "hgvs": "XP_011537930.1:p.Gln311Ter", "hgvsWellDefined": "XP_011537930.1:p.Gln311_Met579delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553739" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "XM_024447935.1:c.931C>T" ], "proteinEffect": { "hgvs": "XP_024303703.1:p.Gln311Ter", "hgvsWellDefined": "XP_024303703.1:p.Gln311_Met593delinsAsnMetGluValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581515" }, { "@id": "http://reg.genome.network/allele/PA204584", "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "NM_015631.6:c.877C>T" ], "proteinEffect": { "hgvs": "NP_056446.4:p.Gln293Ter", "hgvsWellDefined": "NP_056446.4:p.Gln293_Met607delinsAsnMetGluPheGlnValProValIleLeuThrSerGlnAlaAsnAlaProLeuLeuAlaGlyAsnThrCysGlnAsnValValSerGlnValThrTyrGluIleGluThrAsnGlyThrPheGlyIleGlnLysValSerValSerLeuGlyGlnThrAsnLeuThrValGluProGlyAlaSerLeuGlnGlnHisPheIleLeuArgPheArgAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668828", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371217.10:c.877C>T" }, "RefSeq": { "hgvs": "NM_015631.6:c.877C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360261.5:p.Gln293Ter" }, "RefSeq": { "hgvs": "NP_056446.4:p.Gln293Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825860713", "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN024519", "geneNCBI_id": 26123, "geneSymbol": "TCTN3", "hgvs": [ "NM_001143973.2:c.640C>T" ], "proteinEffect": { "hgvs": "NP_001137445.1:p.Gln214Ter", "hgvsWellDefined": "NP_001137445.1:p.Gln214_Met459delinsAsnMetGluAlaPheGlnGlnSerThrAlaAlaSerLeuThrSerProArgSerGlyAsnProGlyTyrIleValGlyLysProLeuLeuAlaLeuThrAspAspIleSerTyrSerMetThrLeuLeuGlnSerGlnGlyAsnGlySerCysSerValLysArgHisGluValGlnPheGlyValAsnAlaIleSerGlyCysLysLeuArgLeuLysLysAlaAspCysSerHisLeuGlnGlnGluIleTyrGlnThrLeuHisGlyArgProArgProGluTyrValAlaIlePheGlyAsnAlaAspProAlaGlnLysGlyGlyTrpThrArgIleLeuAsnArgHisCysSerIleSerAlaIleAsnCysThrSerCysCysLeuIleProValSerLeuGluIleGlnValLeuTrpAlaTyrValGlyLeuLeuSerAsnProGlnAlaHisValSerGlyValArgPheLeuTyrGlnCysGlnSerIleGlnAspSerGlnGlnValThrGluValSerLeuThrThrLeuValAsnPheValAspIleThrGlnLysProGlnProProArgGlyGlnProLysMetAspTrpLysTrpProPheAspPhePheProPheLysValAlaPheSerArgGlyValPheSerGlnLysCysSerValSerProIleLeuIleLeuCysLeuLeuLeuLeuGlyValLeuAsnLeuGluThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712679" } ], "type": "nucleotide" }