{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA373245574", "communityStandardTitle": [ "NM_012144.4(DNAI1):c.397G>T (p.Glu133Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2046193[alleleid]", "alleleId": 2046193, "preferredName": "NM_012144.4(DNAI1):c.397G>T (p.Glu133Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1983133", "RCV": [ "RCV002770098" ], "variationId": 1983133 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.34490018G>T?assembly=hg19", "id": "chr9:g.34490018G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.34490020G>T?assembly=hg38", "id": "chr9:g.34490020G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2492033381", "rs": 2492033381 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-34490020-G-T?dataset=gnomad_r4", "id": "9-34490020-G-T", "variant": "9:34490020 G / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 34490020, "referenceAllele": "G", "start": 34490019 } ], "hgvs": [ "NC_000009.12:g.34490020G>T", "CM000671.2:g.34490020G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 34490018, "referenceAllele": "G", "start": 34490017 } ], "hgvs": [ "NC_000009.11:g.34490018G>T", "CM000671.1:g.34490018G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 34480018, "referenceAllele": "G", "start": 34480017 } ], "hgvs": [ "NC_000009.10:g.34480018G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 36208, "referenceAllele": "G", "start": 36207 } ], "hgvs": [ "NG_008127.1:g.36208G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000872" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000242317.9:c.397G>T" ], "proteinEffect": { "hgvs": "ENSP00000242317.4:p.Glu133Ter", "hgvsWellDefined": "ENSP00000242317.4:p.Glu133_Thr699delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741134", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242317.9:c.397G>T" }, "RefSeq": { "hgvs": "NM_012144.4:c.397G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242317.4:p.Glu133Ter" }, "RefSeq": { "hgvs": "NP_036276.1:p.Glu133Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000242317.8:c.397G>T" ], "proteinEffect": { "hgvs": "ENSP00000242317.4:p.Glu133Ter", "hgvsWellDefined": "ENSP00000242317.4:p.Glu133_Thr699delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249206" }, { "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "G", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000437363.5:c.364G>T" ], "proteinEffect": { "hgvs": "ENSP00000395396.1:p.Glu122Ter", "hgvsWellDefined": "ENSP00000395396.1:p.Glu122Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS294428" }, { "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000488369.1:n.513G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326692" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000614641.4:c.409G>T" ], "proteinEffect": { "hgvs": "ENSP00000480538.1:p.Glu137Ter", "hgvsWellDefined": "ENSP00000480538.1:p.Glu137_Thr703delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402285" }, { "@id": "http://reg.genome.network/allele/PA2580186055", "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_001281428.1:c.409G>T" ], "proteinEffect": { "hgvs": "NP_001268357.1:p.Glu137Ter", "hgvsWellDefined": "NP_001268357.1:p.Glu137_Thr703delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021615" }, { "@id": "http://reg.genome.network/allele/PA2829723064", "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "G", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_012144.3:c.397G>T" ], "proteinEffect": { "hgvs": "NP_036276.1:p.Glu133Ter", "hgvsWellDefined": "NP_036276.1:p.Glu133_Thr699delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032346" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517846.1:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516148.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516148.1:p.Glu137_Ser660delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysGlyGlnAlaIleGlnGlyProAlaLysArgGlyIleIleHisProMetArgLeuGlnGlyGlyAsnArgAlaValHisLeuGlyGlyGluSerThrLeuGlyAspGluMetProTrpSerSerTyrPheLeuCysCysMetValGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085028" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517847.1:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516149.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516149.1:p.Glu137_Leu621delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysSerPheProArgLysSerArgAspSerPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085029" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517848.1:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516150.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516150.1:p.Glu137_Thr617delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085030" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517849.1:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516151.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516151.1:p.Glu137_Leu546delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysLeuArgLeuAspSerGluAspLeuGlyProHisHisGlnAspProAspValHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085031" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517850.1:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516152.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516152.1:p.Glu137_Pro477delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnAspTrpGluAspLeuArgMetAsnPheCysLeuLysLeuLeuLysValSerGlyLeuIleArgGlnGlnTrpAspSerValPheSerSerPheThrSerLeuLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085032" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929232.1:n.663G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125478" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929233.1:n.663G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125479" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929235.1:n.663G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS125480" }, { "coordinates": [ { "allele": "T", "end": 340, "endIntronDirection": "-", "endIntronOffset": 142, "referenceAllele": "G", "start": 340, "startIntronDirection": "-", "startIntronOffset": 143 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_006716758.3:c.-88-143G>T" ], "proteinEffect": { "hgvs": "XP_006716821.1:n.-88-143G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS539243" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517846.2:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516148.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516148.1:p.Glu137_Ser660delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysGlyGlnAlaIleGlnGlyProAlaLysArgGlyIleIleHisProMetArgLeuGlnGlyGlyAsnArgAlaValHisLeuGlyGlyGluSerThrLeuGlyAspGluMetProTrpSerSerTyrPheLeuCysCysMetValGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544692" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517847.3:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516149.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516149.1:p.Glu137_Leu621delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysSerPheProArgLysSerArgAspSerPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544693" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517848.2:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516150.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516150.1:p.Glu137_Thr617delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544694" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517849.2:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516151.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516151.1:p.Glu137_Leu546delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysLeuArgLeuAspSerGluAspLeuGlyProHisHisGlnAspProAspValHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544695" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517850.3:c.409G>T" ], "proteinEffect": { "hgvs": "XP_011516152.1:p.Glu137Ter", "hgvsWellDefined": "XP_011516152.1:p.Glu137_Pro477delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnAspTrpGluAspLeuArgMetAsnPheCysLeuLysLeuLeuLysValSerGlyLeuIleArgGlnGlnTrpAspSerValPheSerSerPheThrSerLeuLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544696" }, { "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "G", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_017014625.2:c.397G>T" ], "proteinEffect": { "hgvs": "XP_016870114.1:p.Glu133Ter", "hgvsWellDefined": "XP_016870114.1:p.Glu133_Thr613delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567532" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_002956774.1:n.610G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602912" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929232.2:n.610G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609139" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929233.2:n.610G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609140" }, { "@id": "http://reg.genome.network/allele/PA2829723064", "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_012144.4:c.397G>T" ], "proteinEffect": { "hgvs": "NP_036276.1:p.Glu133Ter", "hgvsWellDefined": "NP_036276.1:p.Glu133_Thr699delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667918", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242317.9:c.397G>T" }, "RefSeq": { "hgvs": "NM_012144.4:c.397G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242317.4:p.Glu133Ter" }, "RefSeq": { "hgvs": "NP_036276.1:p.Glu133Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580186055", "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_001281428.2:c.409G>T" ], "proteinEffect": { "hgvs": "NP_001268357.1:p.Glu137Ter", "hgvsWellDefined": "NP_001268357.1:p.Glu137_Thr703delinsSerValLysValIleSerGluThrGlyAsnLeuGluGluAspGluGluProLysGluLeuGluThrGluProGlySerGlnThrAspValProAlaAlaGlyAlaAlaGluLysValThrGluGluGluLeuMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715686" } ], "type": "nucleotide" }