{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16615014", "communityStandardTitle": [ "NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=401360[alleleid]", "alleleId": 401360, "preferredName": "NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410278", "RCV": [ "RCV000468722" ], "variationId": 410278 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.84182677C>T?assembly=hg19", "id": "chr16:g.84182677C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.84149072C>T?assembly=hg38", "id": "chr16:g.84149072C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502829", "rs": 1060502829 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-84149072-C-T?dataset=gnomad_r4", "id": "16-84149072-C-T", "variant": "16:84149072 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 84149072, "referenceAllele": "C", "start": 84149071 } ], "hgvs": [ "NC_000016.10:g.84149072C>T", "CM000678.2:g.84149072C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 84182677, "referenceAllele": "C", "start": 84182676 } ], "hgvs": [ "NC_000016.9:g.84182677C>T", "CM000678.1:g.84182677C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 82740178, "referenceAllele": "C", "start": 82740177 } ], "hgvs": [ "NC_000016.8:g.82740178C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 8813, "referenceAllele": "C", "start": 8812 } ], "hgvs": [ "NG_021174.1:g.8813C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003453" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "C", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "ENST00000378553.10:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000367815.5:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752101", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378553.10:c.190C>T" }, "RefSeq": { "hgvs": "NM_178452.6:c.190C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367815.5:p.Gln64Ter" }, "RefSeq": { "hgvs": "NP_848547.4:p.Gln64Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "ENST00000378553.9:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000367815.5:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS272084" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "ENST00000563093.5:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000457373.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000457373.1:p.Gln64_Gly418delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyAspProAlaThrValThrAlaCysGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377191" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "ENST00000567918.5:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000455154.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000455154.1:p.Gln64_Leu247delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380426" }, { "coordinates": [ { "allele": "T", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "ENST00000570298.5:n.344C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS382036" }, { "@id": "http://reg.genome.network/allele/PA645386390", "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "NM_178452.4:c.190C>T" ], "proteinEffect": { "hgvs": "NP_848547.4:p.Gln64Ter", "hgvsWellDefined": "NP_848547.4:p.Gln64_Ser725delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043535" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_006721129.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_006721192.1:p.Gln64Ter", "hgvsWellDefined": "XP_006721192.1:p.Gln64_Ser727delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnValLysAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073961" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522850.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521152.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089992" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522851.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521153.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089993" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522852.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521154.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089994" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522853.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521155.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089995" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522854.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521156.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089996" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522855.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521157.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089997" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "C", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522856.1:c.-72C>T" ], "proteinEffect": { "hgvs": "XP_011521158.1:n.-72C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS089998" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522857.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521159.1:p.Gln64Ter", "hgvsWellDefined": "XP_011521159.1:p.Gln64_Leu643delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnValLysGlyLysGluMetLysThrGlyGluGlyLysGluArgGlyGluSerValArgHisAsnGlyGluPheSerGlnSerAspValThrLeuLeuHisProGluAlaIleThrGlyIleThrArgSerProHisValProAspProTyrProGluGlyGluGlyGlyIleSerHisHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089999" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522858.1:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521160.1:p.Gln64Ter", "hgvsWellDefined": "XP_011521160.1:p.Gln64_Leu641delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnGlyLysGluMetLysThrGlyGluGlyLysGluArgGlyGluSerValArgHisAsnGlyGluPheSerGlnSerAspValThrLeuLeuHisProGluAlaIleThrGlyIleThrArgSerProHisValProAspProTyrProGluGlyGluGlyGlyIleSerHisHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090000" }, { "@id": "http://reg.genome.network/allele/PA645386390", "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "NM_178452.5:c.190C>T" ], "proteinEffect": { "hgvs": "NP_848547.4:p.Gln64Ter", "hgvsWellDefined": "NP_848547.4:p.Gln64_Ser725delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526835" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_006721129.3:c.190C>T" ], "proteinEffect": { "hgvs": "XP_006721192.1:p.Gln64Ter", "hgvsWellDefined": "XP_006721192.1:p.Gln64_Ser727delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnValLysAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540240" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522853.3:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521155.1:p.Gln64Ter", "hgvsWellDefined": "XP_011521155.1:p.Gln64_Ser772delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProGluMetGlyPheHisHisValAspGlnAlaGlyLeuGluLeuLeuThrSerGlyAspLeuPheAlaSerAlaSerGlnSerAlaGlyIleThrValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546784" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522854.3:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521156.1:p.Gln64Ter", "hgvsWellDefined": "XP_011521156.1:p.Gln64_Ser743delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnValLysAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546785" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522855.3:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521157.1:p.Gln64Ter", "hgvsWellDefined": "XP_011521157.1:p.Gln64_Ser741delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyMetArgSerAlaGluAspAsnSerProArgValProLeuArgLeuGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546786" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522857.3:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521159.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546787" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_011522858.3:c.190C>T" ], "proteinEffect": { "hgvs": "XP_011521160.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546788" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_017022918.2:c.190C>T" ], "proteinEffect": { "hgvs": "XP_016878407.1:p.Gln64Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573761" }, { "coordinates": [ { "allele": "T", "end": 679, "referenceAllele": "C", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XM_017022919.1:c.-72C>T" ], "proteinEffect": { "hgvs": "XP_016878408.1:n.-72C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573762" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XR_001751829.2:n.364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598629" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XR_001751830.2:n.364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598630" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XR_001751831.2:n.364C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598631" }, { "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "XR_001751832.1:n.673C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598632" }, { "@id": "http://reg.genome.network/allele/PA645386390", "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "C", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN030539", "geneNCBI_id": 123872, "geneSymbol": "DNAAF1", "hgvs": [ "NM_178452.6:c.190C>T" ], "proteinEffect": { "hgvs": "NP_848547.4:p.Gln64Ter", "hgvsWellDefined": "NP_848547.4:p.Gln64_Ser725delinsSerGlyAspAsnGlySerGlyGlyHisPheAlaHisProArgGluAspArgGluAspArgGlyProArgMetThrLysSerSerLeuGlnLysLeuCysLysGlnHisLysLeuTyrIleThrProAlaLeuAsnAspThrLeuTyrLeuHisPheLysGlyPheAspArgIleGluAsnLeuGluGluTyrThrGlyLeuArgCysLeuTrpLeuGlnSerAsnGlyIleGlnLysIleGluAsnLeuGluAlaGlnThrGluLeuArgCysLeuPheLeuGlnMetAsnLeuLeuArgLysIleGluAsnLeuGluProLeuGlnLysLeuAspAlaLeuAsnLeuSerAsnAsnTyrIleLysThrIleGluAsnLeuSerCysLeuProValLeuAsnThrLeuGlnMetAlaHisAsnHisLeuGluThrValGluAspIleGlnHisLeuGlnGluCysLeuArgLeuCysValLeuAspLeuSerHisAsnLysLeuSerAspProGluIleLeuSerIleLeuGluSerMetProAspLeuArgValLeuAsnLeuMetGlyAsnProValIleArgGlnIleProAsnTyrArgArgThrValThrValArgLeuLysHisLeuThrTyrLeuAspAspArgProValPheProLysAspArgAlaCysAlaGluAlaTrpAlaArgGlyGlyTyrAlaAlaGluLysGluGluArgGlnGlnTrpGluSerArgGluArgLysLysIleThrAspSerIleGluAlaLeuAlaMetIleLysGlnArgAlaGluGluArgLysArgGlnArgGluSerGlnGluArgGlyGluMetThrSerSerAspAspGlyGluAsnValProAlaSerAlaGluGlyLysGluGluProProGlyAspArgGluThrArgGlnLysMetGluLeuPheValLysGluSerPheGluAlaLysAspGluLeuCysProGluLysProSerGlyGluGluProProValGluAlaLysArgGluAspGlyGlyProGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerSerProValGluValLysGlyGluAspGlyAspGlyGluProGluGlyThrLeuProAlaGluAlaProProProProProProValGluValLysGlyGluAspGlyAspGlnGluProGluGlyThrLeuProAlaGluThrLeuLeuLeuSerProProValLysValLysGlyGluAspGlyAspArgGluProGluGlyThrLeuProAlaGluAlaProProProProProLeuGlyAlaAlaArgGluGluProThrProGlnAlaValAlaThrGluGlyValPheValThrGluLeuAspGlyThrArgThrGluAspLeuGluThrIleArgLeuGluThrLysGluThrPheCysIleAspAspLeuProAspLeuGluAspAspAspGluThrGlyLysSerLeuGluAspGlnAsnMetCysPheProLysIleGluValIleSerSerLeuSerAspAspSerAspProGluLeuAspTyrThrSerLeuProValLeuGluAsnLeuProThrAspThrLeuSerAsnIlePheAlaValSerLysAspThrSerLysAlaAlaArgValProPheThrAspIlePheLysLysGluAlaLysArgAspLeuGluIleArgLysGlnAspThrLysSerProArgProLeuIleGlnGluLeuSerAspGluAspProSerGlyGlnLeuLeuMetProProThrCysGlnArgAspAlaAlaProLeuThrSerSerGlyAspArgAspSerAspPheLeuAlaAlaSerSerProValProThrGluSerAlaAlaThrProProGluThrCysValGlyValAlaGlnProSerGlnAlaLeuProThrTrpAspLeuThrAlaPheProAlaProLysAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672860", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378553.10:c.190C>T" }, "RefSeq": { "hgvs": "NM_178452.6:c.190C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367815.5:p.Gln64Ter" }, "RefSeq": { "hgvs": "NP_848547.4:p.Gln64Ter" } } } } ], "type": "nucleotide" }