{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5034097", "communityStandardTitle": [ "NM_012144.4(DNAI1):c.530T>A (p.Leu177Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1368301[alleleid]", "alleleId": 1368301, "preferredName": "NM_012144.4(DNAI1):c.530T>A (p.Leu177Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1439851", "RCV": [ "RCV001978710" ], "variationId": 1439851 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-34490395-T-A", "id": "9-34490395-T-A", "variant": "9:34490395 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.34490395T>A?assembly=hg19", "id": "chr9:g.34490395T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.34490397T>A?assembly=hg38", "id": "chr9:g.34490397T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/749302505", "rs": 749302505 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-34490395-T-A?dataset=gnomad_r2_1", "id": "9-34490395-T-A", "variant": "9:34490395 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-34490397-T-A?dataset=gnomad_r3", "id": "9-34490397-T-A", "variant": "9:34490397 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-34490397-T-A?dataset=gnomad_r4", "id": "9-34490397-T-A", "variant": "9:34490397 T / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 34490397, "referenceAllele": "T", "start": 34490396 } ], "hgvs": [ "NC_000009.12:g.34490397T>A", "CM000671.2:g.34490397T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 34490395, "referenceAllele": "T", "start": 34490394 } ], "hgvs": [ "NC_000009.11:g.34490395T>A", "CM000671.1:g.34490395T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 34480395, "referenceAllele": "T", "start": 34480394 } ], "hgvs": [ "NC_000009.10:g.34480395T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 36585, "referenceAllele": "T", "start": 36584 } ], "hgvs": [ "NG_008127.1:g.36585T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000872" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "T", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000242317.9:c.530T>A" ], "proteinEffect": { "hgvs": "ENSP00000242317.4:p.Leu177Ter", "hgvsWellDefined": "ENSP00000242317.4:p.Leu177_Thr699delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741134", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242317.9:c.530T>A" }, "RefSeq": { "hgvs": "NM_012144.4:c.530T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242317.4:p.Leu177Ter" }, "RefSeq": { "hgvs": "NP_036276.1:p.Leu177Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "T", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000242317.8:c.530T>A" ], "proteinEffect": { "hgvs": "ENSP00000242317.4:p.Leu177Ter", "hgvsWellDefined": "ENSP00000242317.4:p.Leu177_Thr699delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249206" }, { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "T", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000437363.5:c.497T>A" ], "proteinEffect": { "hgvs": "ENSP00000395396.1:p.Leu166Ter", "hgvsWellDefined": "ENSP00000395396.1:p.Leu166Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS294428" }, { "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "T", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000488369.1:n.646T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326692" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "ENST00000614641.4:c.542T>A" ], "proteinEffect": { "hgvs": "ENSP00000480538.1:p.Leu181Ter", "hgvsWellDefined": "ENSP00000480538.1:p.Leu181_Thr703delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402285" }, { "@id": "http://reg.genome.network/allele/PA2573191965", "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_001281428.1:c.542T>A" ], "proteinEffect": { "hgvs": "NP_001268357.1:p.Leu181Ter", "hgvsWellDefined": "NP_001268357.1:p.Leu181_Thr703delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS021615" }, { "@id": "http://reg.genome.network/allele/PA2829723088", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "T", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_012144.3:c.530T>A" ], "proteinEffect": { "hgvs": "NP_036276.1:p.Leu177Ter", "hgvsWellDefined": "NP_036276.1:p.Leu177_Thr699delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032346" }, { "coordinates": [ { "allele": "A", "end": 85, "referenceAllele": "T", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_006716758.2:c.-2T>A" ], "proteinEffect": { "hgvs": "XP_006716821.1:n.-2T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS071831" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517846.1:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516148.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516148.1:p.Leu181_Ser660delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysGlyGlnAlaIleGlnGlyProAlaLysArgGlyIleIleHisProMetArgLeuGlnGlyGlyAsnArgAlaValHisLeuGlyGlyGluSerThrLeuGlyAspGluMetProTrpSerSerTyrPheLeuCysCysMetValGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085028" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517847.1:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516149.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516149.1:p.Leu181_Leu621delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysSerPheProArgLysSerArgAspSerPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085029" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517848.1:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516150.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516150.1:p.Leu181_Thr617delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085030" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517849.1:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516151.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516151.1:p.Leu181_Leu546delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysLeuArgLeuAspSerGluAspLeuGlyProHisHisGlnAspProAspValHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085031" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517850.1:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516152.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516152.1:p.Leu181_Pro477delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnAspTrpGluAspLeuArgMetAsnPheCysLeuLysLeuLeuLysValSerGlyLeuIleArgGlnGlnTrpAspSerValPheSerSerPheThrSerLeuLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085032" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929232.1:n.796T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125478" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929233.1:n.796T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125479" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929235.1:n.796T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS125480" }, { "coordinates": [ { "allele": "A", "end": 427, "referenceAllele": "T", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_006716758.3:c.-2T>A" ], "proteinEffect": { "hgvs": "XP_006716821.1:n.-2T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS539243" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517846.2:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516148.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516148.1:p.Leu181_Ser660delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysGlyGlnAlaIleGlnGlyProAlaLysArgGlyIleIleHisProMetArgLeuGlnGlyGlyAsnArgAlaValHisLeuGlyGlyGluSerThrLeuGlyAspGluMetProTrpSerSerTyrPheLeuCysCysMetValGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544692" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517847.3:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516149.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516149.1:p.Leu181_Leu621delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysSerPheProArgLysSerArgAspSerPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544693" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517848.2:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516150.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516150.1:p.Leu181_Thr617delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544694" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517849.2:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516151.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516151.1:p.Leu181_Leu546delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysLeuArgLeuAspSerGluAspLeuGlyProHisHisGlnAspProAspValHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544695" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_011517850.3:c.542T>A" ], "proteinEffect": { "hgvs": "XP_011516152.1:p.Leu181Ter", "hgvsWellDefined": "XP_011516152.1:p.Leu181_Pro477delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnAspTrpGluAspLeuArgMetAsnPheCysLeuLysLeuLeuLysValSerGlyLeuIleArgGlnGlnTrpAspSerValPheSerSerPheThrSerLeuLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544696" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "T", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XM_017014625.2:c.530T>A" ], "proteinEffect": { "hgvs": "XP_016870114.1:p.Leu177Ter", "hgvsWellDefined": "XP_016870114.1:p.Leu177_Thr613delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567532" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_002956774.1:n.743T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602912" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929232.2:n.743T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609139" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "XR_929233.2:n.743T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609140" }, { "@id": "http://reg.genome.network/allele/PA2829723088", "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "T", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_012144.4:c.530T>A" ], "proteinEffect": { "hgvs": "NP_036276.1:p.Leu177Ter", "hgvsWellDefined": "NP_036276.1:p.Leu177_Thr699delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS667918", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000242317.9:c.530T>A" }, "RefSeq": { "hgvs": "NM_012144.4:c.530T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000242317.4:p.Leu177Ter" }, "RefSeq": { "hgvs": "NP_036276.1:p.Leu177Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573191965", "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN002954", "geneNCBI_id": 27019, "geneSymbol": "DNAI1", "hgvs": [ "NM_001281428.2:c.542T>A" ], "proteinEffect": { "hgvs": "NP_001268357.1:p.Leu181Ter", "hgvsWellDefined": "NP_001268357.1:p.Leu181_Thr703delinsMetThrProLysGlnProLysGluArgLysLeuThrAsnGlnPheAsnPheSerGluArgAlaSerGlnThrTyrAsnAsnProValArgAspArgGluCysGlnThrGluProProProArgThrAsnPheSerAlaThrAlaAsnGlnTrpGluIleTyrAspAlaTyrValGluGluLeuGluLysGlnGluLysThrLysGluLysGluLysAlaLysThrProValAlaLysLysSerGlyLysMetAlaMetArgLysLeuThrSerMetGluSerGlnThrAspAspLeuIleLysLeuSerGlnAlaAlaLysIleMetGluArgMetValAsnGlnAsnThrTyrAspAspIleAlaGlnAspPheLysTyrTyrAspAspAlaAlaAspGluTyrArgAspGlnValGlyThrLeuLeuProLeuTrpLysPheGlnAsnAspLysAlaLysArgLeuSerValThrAlaLeuCysTrpAsnProLysTyrArgAspLeuPheAlaValGlyTyrGlySerTyrAspPheMetLysGlnSerArgGlyMetLeuLeuLeuTyrSerLeuLysAsnProSerPheProGluTyrMetPheSerSerAsnSerGlyValMetCysLeuAspIleHisValAspHisProTyrLeuValAlaValGlyHisTyrAspGlyAsnValAlaIleTyrAsnLeuLysLysProHisSerGlnProSerPheCysSerSerAlaLysSerGlyLysHisSerAspProValTrpGlnValLysTrpGlnLysAspAspMetAspGlnAsnLeuAsnPhePheSerValSerSerAspGlyArgIleValSerTrpThrLeuValLysArgLysLeuValHisIleAspValIleLysLeuLysValGluGlySerThrThrGluValProGluGlyLeuGlnLeuHisProValGlyCysGlyThrAlaPheAspPheHisLysGluIleAspTyrMetPheLeuValGlyThrGluGluGlyLysIleTyrLysCysSerLysSerTyrSerSerGlnPheLeuAspThrTyrAspAlaHisAsnMetSerValAspThrValSerTrpAsnProTyrHisThrLysValPheMetSerCysSerSerAspTrpThrValLysIleTrpAspHisThrIleLysThrProMetPheIleTyrAspLeuAsnSerAlaValGlyAspValAlaTrpAlaProTyrSerSerThrValPheAlaAlaValThrThrAspGlyLysAlaHisIlePheAspLeuAlaIleAsnLysTyrGluAlaIleCysAsnGlnProValAlaAlaLysLysAsnArgLeuThrHisValGlnPheAsnLeuIleHisProIleIleIleValGlyAspAspArgGlyHisIleIleSerLeuLysLeuSerProAsnLeuArgLysMetProLysGluLysLysGlyGlnGluValGlnLysGlyProAlaValGluIleAlaLysLeuAspLysLeuLeuAsnLeuValArgGluValLysIleLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715686" } ], "type": "nucleotide" }