{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129542", "communityStandardTitle": [ "NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39890[alleleid]", "alleleId": 39890, "preferredName": "NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30933", "RCV": [ "RCV000023921", "RCV001852032" ], "variationId": 30933 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.68238826G>A?assembly=hg19", "id": "chr14:g.68238826G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.67772109G>A?assembly=hg38", "id": "chr14:g.67772109G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387907057", "rs": 387907057 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-68238826-G-A?dataset=gnomad_r2_1", "id": "14-68238826-G-A", "variant": "14:68238826 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-67772109-G-A?dataset=gnomad_r4", "id": "14-67772109-G-A", "variant": "14:67772109 G / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 67772109, "referenceAllele": "G", "start": 67772108 } ], "hgvs": [ "NC_000014.9:g.67772109G>A", "CM000676.2:g.67772109G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 68238826, "referenceAllele": "G", "start": 68238825 } ], "hgvs": [ "NC_000014.8:g.68238826G>A", "CM000676.1:g.68238826G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 67308579, "referenceAllele": "G", "start": 67308578 } ], "hgvs": [ "NC_000014.7:g.67308579G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 49481, "referenceAllele": "C", "start": 49480 } ], "hgvs": [ "NG_011836.1:g.49481C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002016" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5562, "referenceAllele": "C", "start": 5561 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "ENST00000347230.9:c.5422C>T" ], "proteinEffect": { "hgvs": "ENSP00000251119.5:p.Gln1808Ter", "hgvsWellDefined": "ENSP00000251119.5:p.Gln1808_Lys2539delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748334", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000347230.9:c.5422C>T" }, "RefSeq": { "hgvs": "NM_015346.4:c.5422C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251119.5:p.Gln1808Ter" }, "RefSeq": { "hgvs": "NP_056161.2:p.Gln1808Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5580, "referenceAllele": "C", "start": 5579 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "ENST00000676512.1:c.5440C>T" ], "proteinEffect": { "hgvs": "ENSP00000504552.1:p.Gln1814Ter", "hgvsWellDefined": "ENSP00000504552.1:p.Gln1814_Lys2545delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776191" }, { "coordinates": [ { "allele": "T", "end": 5484, "referenceAllele": "C", "start": 5483 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "ENST00000676620.1:c.5344C>T" ], "proteinEffect": { "hgvs": "ENSP00000504587.1:p.Gln1782Ter", "hgvsWellDefined": "ENSP00000504587.1:p.Gln1782_Lys2513delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776298" }, { "coordinates": [ { "allele": "T", "end": 5607, "referenceAllele": "C", "start": 5606 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "ENST00000678386.1:c.5467C>T" ], "proteinEffect": { "hgvs": "ENSP00000503677.1:p.Gln1823Ter", "hgvsWellDefined": "ENSP00000503677.1:p.Gln1823_Lys2554delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS778033" }, { "coordinates": [ { "allele": "T", "end": 5561, "referenceAllele": "C", "start": 5560 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "ENST00000347230.8:c.5422C>T" ], "proteinEffect": { "hgvs": "ENSP00000251119.5:p.Gln1808Ter", "hgvsWellDefined": "ENSP00000251119.5:p.Gln1808_Lys2539delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262342" }, { "coordinates": [ { "allele": "T", "end": 5559, "referenceAllele": "C", "start": 5558 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "ENST00000554523.5:n.5559C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370707" }, { "coordinates": [ { "allele": "T", "end": 4865, "referenceAllele": "C", "start": 4864 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "ENST00000554557.5:c.*3400C>T" ], "proteinEffect": { "hgvs": "ENSP00000450431.1:n.*3400C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS370729" }, { "coordinates": [ { "allele": "T", "end": 5559, "referenceAllele": "C", "start": 5558 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "ENST00000555452.1:c.5422C>T" ], "proteinEffect": { "hgvs": "ENSP00000450603.1:p.Gln1808Ter", "hgvsWellDefined": "ENSP00000450603.1:p.Gln1808_Pro2225delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysValGlyHisGlyHisSerSerLysArgGlnCysLeuProTyrSerSerGlyLeuAspHisSerAlaLeuSerGlyThrIleThrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS371442" }, { "@id": "http://reg.genome.network/allele/PA129543", "coordinates": [ { "allele": "T", "end": 5561, "referenceAllele": "C", "start": 5560 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "NM_015346.3:c.5422C>T" ], "proteinEffect": { "hgvs": "NP_056161.2:p.Gln1808Ter", "hgvsWellDefined": "NP_056161.2:p.Gln1808_Lys2539delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033946" }, { "coordinates": [ { "allele": "T", "end": 5562, "referenceAllele": "C", "start": 5561 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_006720093.2:c.5422C>T" ], "proteinEffect": { "hgvs": "XP_006720156.1:p.Gln1808Ter", "hgvsWellDefined": "XP_006720156.1:p.Gln1808_Cys2497delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysIleValProIleLeuAlaAlaLeuArgAspArgValHisThrGluGluArgGlyArgSerProSerThrLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073491" }, { "coordinates": [ { "allele": "T", "end": 5494, "referenceAllele": "C", "start": 5493 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_011536606.1:c.3913C>T" ], "proteinEffect": { "hgvs": "XP_011534908.1:p.Gln1305Ter", "hgvsWellDefined": "XP_011534908.1:p.Gln1305_Lys2036delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103591" }, { "coordinates": [ { "allele": "T", "end": 3241, "referenceAllele": "C", "start": 3240 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_011536607.1:c.3097C>T" ], "proteinEffect": { "hgvs": "XP_011534909.1:p.Gln1033Ter", "hgvsWellDefined": "XP_011534909.1:p.Gln1033_Lys1764delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103592" }, { "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "C", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_011536608.1:c.3004C>T" ], "proteinEffect": { "hgvs": "XP_011534910.1:p.Gln1002Ter", "hgvsWellDefined": "XP_011534910.1:p.Gln1002_Lys1733delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103593" }, { "coordinates": [ { "allele": "T", "end": 5580, "referenceAllele": "C", "start": 5579 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_017021124.1:c.5440C>T" ], "proteinEffect": { "hgvs": "XP_016876613.1:p.Gln1814Ter", "hgvsWellDefined": "XP_016876613.1:p.Gln1814_Lys2545delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572431" }, { "coordinates": [ { "allele": "T", "end": 5580, "referenceAllele": "C", "start": 5579 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_017021125.1:c.5440C>T" ], "proteinEffect": { "hgvs": "XP_016876614.1:p.Gln1814Ter", "hgvsWellDefined": "XP_016876614.1:p.Gln1814_Cys2503delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysIleValProIleLeuAlaAlaLeuArgAspArgValHisThrGluGluArgGlyArgSerProSerThrLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572432" }, { "coordinates": [ { "allele": "T", "end": 6194, "referenceAllele": "C", "start": 6193 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_017021126.1:c.3931C>T" ], "proteinEffect": { "hgvs": "XP_016876615.1:p.Gln1311Ter", "hgvsWellDefined": "XP_016876615.1:p.Gln1311_Lys2042delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572433" }, { "coordinates": [ { "allele": "T", "end": 3275, "referenceAllele": "C", "start": 3274 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_017021127.2:c.3115C>T" ], "proteinEffect": { "hgvs": "XP_016876616.1:p.Gln1039Ter", "hgvsWellDefined": "XP_016876616.1:p.Gln1039_Lys1770delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572434" }, { "coordinates": [ { "allele": "T", "end": 3129, "referenceAllele": "C", "start": 3128 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "XM_017021128.1:c.3022C>T" ], "proteinEffect": { "hgvs": "XP_016876617.1:p.Gln1008Ter", "hgvsWellDefined": "XP_016876617.1:p.Gln1008_Lys1739delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572435" }, { "@id": "http://reg.genome.network/allele/PA129543", "coordinates": [ { "allele": "T", "end": 5562, "referenceAllele": "C", "start": 5561 } ], "gene": "http://reg.genome.network/gene/GN020761", "geneNCBI_id": 23503, "geneSymbol": "ZFYVE26", "hgvs": [ "NM_015346.4:c.5422C>T" ], "proteinEffect": { "hgvs": "NP_056161.2:p.Gln1808Ter", "hgvsWellDefined": "NP_056161.2:p.Gln1808_Lys2539delinsTrpValProAspGluThrGluSerIleCysMetValCysCysArgGluHisPheThrMetPheAsnArgArgHisHisCysArgArgCysGlyArgLeuValCysSerSerCysSerThrLysLysMetValValGluGlyCysArgGluAsnProAlaArgValCysAspGlnCysTyrSerTyrCysAsnLysAspValProGluGluProSerGluLysProGluAlaLeuAspSerSerLysAsnGluSerProProTyrSerPheValValArgValProLysAlaAspGluValGluTrpIleLeuAspLeuLysGluGluGluAsnGluLeuValArgSerGluPheTyrTyrGluGlnAlaProSerAlaSerLeuCysIleAlaIleLeuAsnLeuHisArgAspSerIleAlaCysGlyHisGlnLeuIleGluHisCysCysArgLeuSerLysGlyLeuThrAsnProGluValAspAlaGlyLeuLeuThrAspIleMetLysGlnLeuLeuPheSerAlaLysMetMetPheValLysAlaGlyGlnSerGlnAspLeuAlaLeuCysAspSerTyrIleSerLysValAspValLeuAsnIleLeuValAlaAlaAlaTyrArgHisValProSerLeuAspGlnIleLeuGlnProAlaAlaValThrArgLeuArgAsnGlnLeuLeuGluAlaGluTyrTyrGlnLeuGlyValGluValSerThrLysThrGlyLeuAspThrThrGlyAlaTrpHisAlaTrpGlyMetAlaCysLeuLysAlaGlyAsnLeuThrAlaAlaArgGluLysPheSerArgCysLeuLysProProPheAspLeuAsnGlnLeuAsnHisGlySerArgLeuValGlnAspValValGluTyrLeuGluSerThrValArgProPheValSerLeuGlnAspAspAspTyrPheAlaThrLeuArgGluLeuGluAlaThrLeuArgThrGlnSerLeuSerLeuAlaValIleProGluGlyLysIleMetAsnAsnThrTyrTyrGlnGluCysLeuPheTyrLeuHisAsnTyrSerThrAsnLeuAlaIleIleSerPheTyrValArgHisSerCysLeuArgGluAlaLeuLeuHisLeuLeuAsnLysGluSerProProGluValPheIleGluGlyIlePheGlnProSerTyrLysSerGlyLysLeuHisThrLeuGluAsnLeuLeuGluSerIleAspProThrLeuGluSerTrpGlyLysTyrLeuIleAlaAlaCysGlnHisLeuGlnLysLysAsnTyrTyrHisIleLeuTyrGluLeuGlnGlnPheMetLysAspGlnValArgAlaAlaMetThrCysIleArgPhePheSerHisLysAlaLysSerTyrThrGluLeuGlyGluLysLeuSerTrpLeuLeuLysAlaLysAspHisLeuLysIleTyrLeuGlnGluThrSerArgSerSerGlyArgLysLysThrThrPhePheArgLysLysMetThrAlaAlaAspValSerArgHisMetAsnThrLeuGlnLeuGlnMetGluValThrArgPheLeuHisArgCysGluSerAlaGlyThrSerGlnIleThrThrLeuProLeuProThrLeuPheGlyAsnAsnHisMetLysMetAspValAlaCysLysValMetLeuGlyGlyLysAsnValGluAspGlyPheGlyIleAlaPheArgValLeuGlnAspPheGlnLeuAspAlaAlaMetThrTyrCysArgAlaAlaArgGlnLeuValGluLysGluLysTyrSerGluIleGlnGlnLeuLeuLysCysValSerGluSerGlyMetAlaAlaLysSerAspGlyAspThrIleLeuLeuAsnCysLeuGluAlaPheLysArgIleProProGlnGluLeuGluGlyLeuIleGlnAlaIleHisAsnAspAspAsnLysValArgAlaTyrLeuIleCysCysLysLeuArgSerAlaTyrLeuIleAlaValLysGlnGluHisSerArgAlaThrAlaLeuValGlnGlnValGlnGlnAlaAlaLysSerSerGlyAspAlaValValGlnAspIleCysAlaGlnTrpLeuLeuThrSerHisProArgGlyAlaHisGlyProGlySerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000347230.9:c.5422C>T" }, "RefSeq": { "hgvs": "NM_015346.4:c.5422C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251119.5:p.Gln1808Ter" }, "RefSeq": { "hgvs": "NP_056161.2:p.Gln1808Ter" } } } } ], "type": "nucleotide" }