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1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517848.2:c.1319G>A" ], "proteinEffect": { "hgvs": "XP_011516150.1:p.Trp440Ter", "hgvsWellDefined": "XP_011516150.1:p.Trp440_Thr617delinsGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544694" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517849.2:c.1319G>A" ], "proteinEffect": { "hgvs": "XP_011516151.1:p.Trp440Ter", "hgvsWellDefined": "XP_011516151.1:p.Trp440_Leu546delinsGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysLeuArgLeuAspSerGluAspLeuGlyProHisHisGlnAspProAspValHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544695" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517850.3:c.1319G>A" ], "proteinEffect": { "hgvs": "XP_011516152.1:p.Trp440Ter", "hgvsWellDefined": "XP_011516152.1:p.Trp440_Pro477delinsGlnAspTrpGluAspLeuArgMetAsnPheCysLeuLysLeuLeuLysValSerGlyLeuIleArgGlnGlnTrpAspSerValPheSerSerPheThrSerLeuLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544696" }, { "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "G", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_017014625.2:c.1307G>A" ], "proteinEffect": { "hgvs": "XP_016870114.1:p.Trp436Ter", "hgvsWellDefined": "XP_016870114.1:p.Trp436_Thr613delinsGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567532" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_002956774.1:n.1520G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602912" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929232.2:n.1520G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609139" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929233.2:n.1520G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609140" }, { "@id": "http://reg.genome.network/allele/PA645462800", "coordinates": [ { "allele": "A", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_012144.4:c.1307G>A" ], "proteinEffect": { "hgvs": "NP_036276.1:p.Trp436Ter", "hgvsWellDefined": "NP_036276.1:p.Trp436_Thr699delinsGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667918", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242317.9:c.1307G>A" }, "RefSeq": { "hgvs": "NM_012144.4:c.1307G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242317.4:p.Trp436Ter" }, "RefSeq": { "hgvs": "NP_036276.1:p.Trp436Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916010824", "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_001281428.2:c.1319G>A" ], "proteinEffect": { "hgvs": "NP_001268357.1:p.Trp440Ter", "hgvsWellDefined": "NP_001268357.1:p.Trp440_Thr703delinsGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715686" } ], "type": "nucleotide" }