{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA358644", "communityStandardTitle": [ "NM_017886.4(ULK4):c.2584C>T (p.Arg862Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=225811[alleleid]", "alleleId": 225811, "preferredName": "NM_017886.4(ULK4):c.2584C>T (p.Arg862Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224081", "RCV": [ "RCV000209944", "RCV003907778" ], "variationId": 224081 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-41756779-G-A", "id": "3-41756779-G-A", "variant": "3:41756779 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.41756779G>A?assembly=hg19", "id": "chr3:g.41756779G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.41715287G>A?assembly=hg38", "id": "chr3:g.41715287G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199884004", "rs": 199884004 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-41756779-G-A?dataset=gnomad_r2_1", "id": "3-41756779-G-A", "variant": "3:41756779 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-41715287-G-A?dataset=gnomad_r3", "id": "3-41715287-G-A", "variant": "3:41715287 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-41715287-G-A?dataset=gnomad_r4", "id": "3-41715287-G-A", "variant": "3:41715287 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 41715287, "referenceAllele": "G", "start": 41715286 } ], "hgvs": [ "NC_000003.12:g.41715287G>A", "CM000665.2:g.41715287G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 41756779, "referenceAllele": "G", "start": 41756778 } ], "hgvs": [ "NC_000003.11:g.41756779G>A", "CM000665.1:g.41756779G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 41731783, "referenceAllele": "G", "start": 41731782 } ], "hgvs": [ "NC_000003.10:g.41731783G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 252734, "referenceAllele": "C", "start": 252733 } ], "hgvs": [ "NG_051047.1:g.252734C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616864" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "ENST00000301831.9:c.2584C>T" ], "proteinEffect": { "hgvs": "ENSP00000301831.4:p.Arg862Ter", "hgvsWellDefined": "ENSP00000301831.4:p.Arg862_His1275delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744882", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301831.9:c.2584C>T" }, "RefSeq": { "hgvs": "NM_017886.4:c.2584C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301831.4:p.Arg862Ter" }, "RefSeq": { "hgvs": "NP_060356.2:p.Arg862Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3047, "referenceAllele": "C", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "ENST00000301831.8:c.2584C>T" ], "proteinEffect": { "hgvs": "ENSP00000301831.4:p.Arg862Ter", "hgvsWellDefined": "ENSP00000301831.4:p.Arg862_His1275delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255072" }, { "@id": "http://reg.genome.network/allele/PA358645", "coordinates": [ { "allele": "T", "end": 2785, "referenceAllele": "C", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NM_017886.2:c.2584C>T" ], "proteinEffect": { "hgvs": "NP_060356.2:p.Arg862Ter", "hgvsWellDefined": "NP_060356.2:p.Arg862_His1275delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035278" }, { "coordinates": [ { "allele": "T", "end": 3496, "referenceAllele": "C", "start": 3495 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_005265261.3:c.2581C>T" ], "proteinEffect": { "hgvs": "XP_005265318.1:p.Arg861Ter", "hgvsWellDefined": "XP_005265318.1:p.Arg861_His1274delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064561" }, { "coordinates": [ { "allele": "T", "end": 3410, "referenceAllele": "C", "start": 3409 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_006713215.2:c.2227C>T" ], "proteinEffect": { "hgvs": "XP_006713278.1:p.Arg743Ter", "hgvsWellDefined": "XP_006713278.1:p.Arg743_His1156delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070058" }, { "coordinates": [ { "allele": "T", "end": 3047, "referenceAllele": "C", "start": 3046 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533872.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011532174.1:p.Arg862Ter", "hgvsWellDefined": "XP_011532174.1:p.Arg862_His1275delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100890" }, { "coordinates": [ { "allele": "T", "end": 3499, "referenceAllele": "C", "start": 3498 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533873.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011532175.1:p.Arg862Ter", "hgvsWellDefined": "XP_011532175.1:p.Arg862_Cys1253delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetGlyGluAlaAlaTyrSerPheArgGlnHisLeuLeuArgArgArgSerProArgLysSerLysArgAspLeuLysAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100891" }, { "coordinates": [ { "allele": "T", "end": 3499, "referenceAllele": "C", "start": 3498 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533874.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011532176.1:p.Arg862Ter", "hgvsWellDefined": "XP_011532176.1:p.Arg862_Ile1247delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetValSerAlaLeuLeuIleProHisGluAsnArgArgValLeuLeuLeuLysMetSerValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100892" }, { "coordinates": [ { "allele": "T", "end": 3498, "referenceAllele": "C", "start": 3497 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533875.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011532177.1:p.Arg862Ter", "hgvsWellDefined": "XP_011532177.1:p.Arg862_Leu1235delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetLysArgLeuValGluAlaValValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100893" }, { "coordinates": [ { "allele": "T", "end": 3498, "referenceAllele": "C", "start": 3497 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533876.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011532178.1:p.Arg862Ter", "hgvsWellDefined": "XP_011532178.1:p.Arg862_Ser1229delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetValGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100894" }, { "coordinates": [ { "allele": "T", "end": 1840, "referenceAllele": "C", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533877.1:c.1795C>T" ], "proteinEffect": { "hgvs": "XP_011532179.1:p.Arg599Ter", "hgvsWellDefined": "XP_011532179.1:p.Arg599_His1012delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100895" }, { "coordinates": [ { "allele": "T", "end": 3504, "referenceAllele": "C", "start": 3503 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533878.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011532180.1:p.Arg862Ter", "hgvsWellDefined": "XP_011532180.1:p.Arg862_Cys897delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100896" }, { "coordinates": [ { "allele": "T", "end": 1582, "referenceAllele": "C", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533879.1:c.1444C>T" ], "proteinEffect": { "hgvs": "XP_011532181.1:p.Arg482Ter", "hgvsWellDefined": "XP_011532181.1:p.Arg482_His895delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100897" }, { "coordinates": [ { "allele": "T", "end": 1030, "referenceAllele": "C", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533880.1:c.757C>T" ], "proteinEffect": { "hgvs": "XP_011532182.1:p.Arg253Ter", "hgvsWellDefined": "XP_011532182.1:p.Arg253_His666delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100898" }, { "coordinates": [ { "allele": "T", "end": 3373, "referenceAllele": "C", "start": 3372 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XR_427279.2:n.3373C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117672" }, { "@id": "http://reg.genome.network/allele/PA2827168662", "coordinates": [ { "allele": "T", "end": 3057, "referenceAllele": "C", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NM_001322500.1:c.2584C>T" ], "proteinEffect": { "hgvs": "NP_001309429.1:p.Arg862Ter", "hgvsWellDefined": "NP_001309429.1:p.Arg862_Leu1235delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetLysArgLeuValGluAlaValValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515067" }, { "@id": "http://reg.genome.network/allele/PA2827168738", "coordinates": [ { "allele": "T", "end": 2981, "referenceAllele": "C", "start": 2980 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NM_001322501.1:c.1678C>T" ], "proteinEffect": { "hgvs": "NP_001309430.1:p.Arg560Ter", "hgvsWellDefined": "NP_001309430.1:p.Arg560_His973delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515068" }, { "@id": "http://reg.genome.network/allele/PA358645", "coordinates": [ { "allele": "T", "end": 3057, "referenceAllele": "C", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NM_017886.3:c.2584C>T" ], "proteinEffect": { "hgvs": "NP_060356.2:p.Arg862Ter", "hgvsWellDefined": "NP_060356.2:p.Arg862_His1275delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525835" }, { "coordinates": [ { "allele": "T", "end": 2987, "referenceAllele": "C", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NR_136342.1:n.2987C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS528773" }, { "coordinates": [ { "allele": "T", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_011533880.3:c.757C>T" ], "proteinEffect": { "hgvs": "XP_011532182.1:p.Arg253Ter", "hgvsWellDefined": "XP_011532182.1:p.Arg253_His666delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551415" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_024453612.1:c.715C>T" ], "proteinEffect": { "hgvs": "XP_024309380.1:p.Arg239Ter", "hgvsWellDefined": "XP_024309380.1:p.Arg239_His652delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586988" }, { "coordinates": [ { "allele": "T", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "XM_024453613.1:c.757C>T" ], "proteinEffect": { "hgvs": "XP_024309381.1:p.Arg253Ter", "hgvsWellDefined": "XP_024309381.1:p.Arg253_Ile638delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetValSerAlaLeuLeuIleProHisGluAsnArgArgValLeuLeuLeuLysMetSerValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586989" }, { "@id": "http://reg.genome.network/allele/PA358645", "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NM_017886.4:c.2584C>T" ], "proteinEffect": { "hgvs": "NP_060356.2:p.Arg862Ter", "hgvsWellDefined": "NP_060356.2:p.Arg862_His1275delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669415", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301831.9:c.2584C>T" }, "RefSeq": { "hgvs": "NM_017886.4:c.2584C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301831.4:p.Arg862Ter" }, "RefSeq": { "hgvs": "NP_060356.2:p.Arg862Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827168662", "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NM_001322500.2:c.2584C>T" ], "proteinEffect": { "hgvs": "NP_001309429.1:p.Arg862Ter", "hgvsWellDefined": "NP_001309429.1:p.Arg862_Leu1235delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetLysArgLeuValGluAlaValValLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685797" }, { "@id": "http://reg.genome.network/allele/PA2827168738", "coordinates": [ { "allele": "T", "end": 2644, "referenceAllele": "C", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NM_001322501.2:c.1678C>T" ], "proteinEffect": { "hgvs": "NP_001309430.1:p.Arg560Ter", "hgvsWellDefined": "NP_001309430.1:p.Arg560_His973delinsProGlnValValThrGluGluPheLeuPheSerTyrGlyThrIleLeuSerHisIleLysSerValAspSerGlyGluThrAsnIleAspGlyAlaIleGlyLeuThrAlaSerGluGluPheIleLysIleThrLeuSerAlaPheGluAlaIleIleGlnTyrProIleLeuLeuLysAspTyrArgSerThrValValAspTyrIleLeuProProLeuValSerLeuValGlnSerGlnAsnValGluTrpArgLeuPheSerLeuArgLeuLeuSerGluThrThrSerLeuLeuValAsnGlnGluPheGlyAspGlyLysGluLysAlaSerValAspSerAspSerAsnLeuLeuAlaLeuIleArgAspValLeuLeuProGlnTyrGluHisIleLeuLeuGluProAspProValProAlaTyrAlaLeuLysLeuLeuValAlaMetThrGluHisAsnProThrPheThrArgLeuValGluGluSerLysLeuIleProLeuIlePheGluValThrLeuGluHisGlnGluSerIleLeuGlyAsnThrMetGlnSerValIleAlaLeuLeuSerAsnLeuValAlaCysLysAspSerAsnMetGluLeuLeuTyrGluGlnGlyLeuValSerHisIleCysAsnLeuLeuThrGluThrAlaThrLeuCysLeuAspValAspAsnLysAsnAsnAsnGluMetAlaAlaProLeuLeuPheSerLeuLeuAspIleLeuHisSerMetLeuThrTyrThrSerGlyIleValArgLeuAlaLeuGlnAlaGlnLysSerGlySerGlyGluAspProGlnAlaAlaGluAspLeuLeuLeuLeuAsnArgProLeuThrAspLeuIleSerLeuLeuIleProLeuLeuProAsnGluAspProGluIlePheAspValSerSerLysCysLeuSerIleLeuValGlnLeuTyrGlyGlyGluAsnProAspSerLeuSerProGluAsnValGluIlePheAlaHisLeuLeuThrSerLysGluAspProLysGluGlnLysLeuLeuLeuArgIleLeuArgArgMetIleThrSerAsnGluLysHisLeuGluSerLeuLysAsnAlaGlySerLeuLeuArgAlaLeuGluArgLeuAlaProGlySerGlySerPheAlaAspSerAlaValAlaProLeuAlaLeuGluIleLeuGlnAlaValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685798" }, { "coordinates": [ { "allele": "T", "end": 2650, "referenceAllele": "C", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN015784", "geneNCBI_id": 54986, "geneSymbol": "ULK4", "hgvs": [ "NR_136342.2:n.2650C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703844" } ], "type": "nucleotide" }