{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA407456796", "communityStandardTitle": [ "NM_001256715.2(DNAAF3):c.459G>A (p.Trp153Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.55673522C>T?assembly=hg19", "id": "chr19:g.55673522C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.55162154C>T?assembly=hg38", "id": "chr19:g.55162154C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2515529066", "rs": 2515529066 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-55162154-C-T?dataset=gnomad_r4", "id": "19-55162154-C-T", "variant": "19:55162154 C / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 55162154, "referenceAllele": "C", "start": 55162153 } ], "hgvs": [ "NC_000019.10:g.55162154C>T", "CM000681.2:g.55162154C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 55673522, "referenceAllele": "C", "start": 55673521 } ], "hgvs": [ "NC_000019.9:g.55673522C>T", "CM000681.1:g.55673522C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 60365334, "referenceAllele": "C", "start": 60365333 } ], "hgvs": [ "NC_000019.8:g.60365334C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 579, "referenceAllele": "G", "start": 578 } ], "hgvs": [ "NG_007866.2:g.579G>A", "LRG_432:g.579G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000679" }, { "coordinates": [ { "allele": "A", "end": 9569, "referenceAllele": "G", "start": 9568 } ], "hgvs": [ "NG_032759.1:g.9569G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005206" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000524407.7:c.459G>A" ], "proteinEffect": { "hgvs": "ENSP00000432046.3:p.Trp153Ter", "hgvsWellDefined": "ENSP00000432046.3:p.Trp153_Val541delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758852", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000524407.7:c.459G>A" }, "RefSeq": { "hgvs": "NM_001256715.2:c.459G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000432046.3:p.Trp153Ter" }, "RefSeq": { "hgvs": "NP_001243644.1:p.Trp153Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000391720.8:c.600G>A" ], "proteinEffect": { "hgvs": "ENSP00000375600.5:p.Trp200Ter", "hgvsWellDefined": "ENSP00000375600.5:p.Trp200_Val588delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274707" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000455045.5:c.297G>A" ], "proteinEffect": { "hgvs": "ENSP00000394343.1:p.Trp99Ter", "hgvsWellDefined": "ENSP00000394343.1:p.Trp99_Val487delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302848" }, { "coordinates": [ { "allele": "A", "end": 493, "referenceAllele": "G", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000524407.6:c.459G>A" ], "proteinEffect": { "hgvs": "ENSP00000432046.2:p.Trp153Ter", "hgvsWellDefined": "ENSP00000432046.2:p.Trp153_Val541delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS350575" }, { "coordinates": [ { "allele": "A", "end": 544, "referenceAllele": "G", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000526003.5:c.459G>A" ], "proteinEffect": { "hgvs": "ENSP00000473009.1:p.Trp153Ter", "hgvsWellDefined": "ENSP00000473009.1:p.Trp153_Lys160del" }, "referenceSequence": "http://reg.genome.network/refseq/RS351933" }, { "coordinates": [ { "allele": "A", "end": 196, "referenceAllele": "G", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000526959.5:n.196G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352743" }, { "coordinates": [ { "allele": "A", "end": 308, "referenceAllele": "G", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000527166.1:n.308G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352917" }, { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000527223.6:c.663G>A" ], "proteinEffect": { "hgvs": "ENSP00000436975.2:p.Trp221Ter", "hgvsWellDefined": "ENSP00000436975.2:p.Trp221_Val608delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352965" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000527292.5:n.297G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353023" }, { "coordinates": [ { "allele": "A", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "ENST00000528412.5:c.*247G>A" ], "proteinEffect": { "hgvs": "ENSP00000433826.2:n.*247G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS353957" }, { "@id": "http://reg.genome.network/allele/PA2826402637", "coordinates": [ { "allele": "A", "end": 737, "referenceAllele": "G", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "NM_001256714.1:c.663G>A" ], "proteinEffect": { "hgvs": "NP_001243643.1:p.Trp221Ter", "hgvsWellDefined": "NP_001243643.1:p.Trp221_Val608delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019407" }, { "@id": "http://reg.genome.network/allele/PA2826402773", "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "NM_001256715.1:c.459G>A" ], "proteinEffect": { "hgvs": "NP_001243644.1:p.Trp153Ter", "hgvsWellDefined": "NP_001243644.1:p.Trp153_Val541delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019408" }, { "@id": "http://reg.genome.network/allele/PA2741847285", "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "NM_001256716.1:c.297G>A" ], "proteinEffect": { "hgvs": "NP_001243645.1:p.Trp99Ter", "hgvsWellDefined": "NP_001243645.1:p.Trp99_Val487delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019409" }, { "@id": "http://reg.genome.network/allele/PA2830381863", "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "NM_178837.4:c.600G>A" ], "proteinEffect": { "hgvs": "NP_849159.2:p.Trp200Ter", "hgvsWellDefined": "NP_849159.2:p.Trp200_Val588delinsLeuSerLeuArgAlaLeuLysPheArgGluArgAspAlaLeuGluAlaValPheArgPheTrpAlaGlyGlyGluLysGlyProGlnAlaPheProMetSerArgLeuTrpAspSerArgLeuArgHisTyrLeuGlySerArgTyrAspAlaArgArgGlyValSerAspTrpAspLeuArgMetLysLeuHisAspArgGlyAlaGlnValIleHisProGlnGluPheArgArgTrpArgAspThrGlyValAlaPheGluLeuArgAspSerSerAlaTyrHisValProAsnArgThrLeuAlaSerGlyArgLeuLeuSerTyrArgGlyGluArgValAlaAlaArgGlyTyrTrpGlyAspIleAlaThrGlyProPheValAlaPheGlyIleGluAlaAspAspGluSerLeuLeuArgThrSerAsnGlyGlnProValLysThrAlaGlyGluIleThrGlnHisAsnValThrGluLeuLeuArgAspValAlaAlaTrpGlyArgAlaArgAlaThrGlyGlyAspLeuGluGluGlnGlnHisAlaGluGlySerProGluProGlyThrProAlaAlaProThrProGluSerPheThrValHisPheLeuProLeuAsnSerAlaGlnThrLeuHisHisLysSerCysTyrAsnGlyArgPheGlnLeuLeuTyrValAlaCysGlyMetValHisLeuLeuIleProGluLeuGlyAlaCysValAlaProGlyGlyAsnLeuIleValGluLeuAlaArgTyrLeuValAspValArgGlnGluGlnLeuGlnGlyPheAsnThrArgValArgGluLeuAlaGlnAlaAlaGlyPheAlaProGlnThrGlyAlaArgProSerGluThrPheAlaArgPheCysLysSerGlnGluSerAlaLeuGlyAsnThrValProAlaValGluProGlyThrProProLeuAspIleLeuAlaGlnProLeuGluAlaSerAsnProAlaLeuGluGlyLeuThrGlnProLeuGlnGlyGlyThrProHisCysGluProCysGlnLeuProSerGluSerProGlySerLeuSerGluValLeuAlaGlnProGlnGlyAlaLeuAlaProProAsnCysGluSerAspSerLysThrGlyValTer" 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"referenceAllele": "C", "start": 256, "startIntronDirection": "-", "startIntronOffset": 598 } ], "gene": "http://reg.genome.network/gene/GN055292", "geneNCBI_id": 101930593, "geneSymbol": "DNAAF3-AS1", "hgvs": [ "XR_001754014.1:n.257-598C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600385" }, { "coordinates": [ { "allele": "T", "end": 227, "endIntronDirection": "-", "endIntronOffset": 597, "referenceAllele": "C", "start": 227, "startIntronDirection": "-", "startIntronOffset": 598 } ], "gene": "http://reg.genome.network/gene/GN055292", "geneNCBI_id": 101930593, "geneSymbol": "DNAAF3-AS1", "hgvs": [ "XR_001754015.1:n.228-598C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600386" }, { "coordinates": [ { "allele": "T", "end": 269, "endIntronDirection": "-", "endIntronOffset": 597, "referenceAllele": "C", "start": 269, "startIntronDirection": "-", "startIntronOffset": 598 } ], "gene": "http://reg.genome.network/gene/GN055292", "geneNCBI_id": 101930593, "geneSymbol": "DNAAF3-AS1", "hgvs": [ "XR_936074.2:n.270-598C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS611209" }, { "@id": "http://reg.genome.network/allele/PA2826402773", "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "NM_001256715.2:c.459G>A" ], "proteinEffect": { "hgvs": "NP_001243644.1:p.Trp153Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS680634", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000524407.7:c.459G>A" }, "RefSeq": { "hgvs": "NM_001256715.2:c.459G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000432046.3:p.Trp153Ter" }, "RefSeq": { "hgvs": "NP_001243644.1:p.Trp153Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741847285", "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN030492", "geneNCBI_id": 352909, "geneSymbol": "DNAAF3", "hgvs": [ "NM_001256716.2:c.297G>A" ], "proteinEffect": { "hgvs": "NP_001243645.1:p.Trp99Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS714823" } ], "type": "nucleotide" }