{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7570824", "communityStandardTitle": [ "NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513221[alleleid]", "alleleId": 513221, "preferredName": "NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522610", "RCV": [ "RCV000677370", "RCV002491342" ], "variationId": 522610 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-53907717-G-A", "id": "15-53907717-G-A", "variant": "15:53907717 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.53907717G>A?assembly=hg19", "id": "chr15:g.53907717G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.53615520G>A?assembly=hg38", "id": "chr15:g.53615520G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/557128345", "rs": 557128345 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-53907717-G-A?dataset=gnomad_r2_1", "id": "15-53907717-G-A", "variant": "15:53907717 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-53615520-G-A?dataset=gnomad_r3", "id": "15-53615520-G-A", "variant": "15:53615520 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-53615520-G-A?dataset=gnomad_r4", "id": "15-53615520-G-A", "variant": "15:53615520 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 53615520, "referenceAllele": "G", "start": 53615519 } ], "hgvs": [ "NC_000015.10:g.53615520G>A", "CM000677.2:g.53615520G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 53907717, "referenceAllele": "G", "start": 53907716 } ], "hgvs": [ "NC_000015.9:g.53907717G>A", "CM000677.1:g.53907717G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 51695009, "referenceAllele": "G", "start": 51695008 } ], "hgvs": [ "NC_000015.8:g.51695009G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 149143, "referenceAllele": "C", "start": 149142 } ], "hgvs": [ "NG_017034.2:g.149143C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003376" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2729, "referenceAllele": "C", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "ENST00000360509.10:c.2686C>T" ], "proteinEffect": { "hgvs": "ENSP00000353699.5:p.Arg896Ter", "hgvsWellDefined": "ENSP00000353699.5:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360509.10:c.2686C>T" }, "RefSeq": { "hgvs": "NM_182758.4:c.2686C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353699.5:p.Arg896Ter" }, "RefSeq": { "hgvs": "NP_877435.3:p.Arg896Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2728, "referenceAllele": "C", "start": 2727 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "ENST00000360509.9:c.2686C>T" ], "proteinEffect": { "hgvs": "ENSP00000353699.5:p.Arg896Ter", "hgvsWellDefined": "ENSP00000353699.5:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265158" }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "ENST00000396328.5:c.2686C>T" ], "proteinEffect": { "hgvs": "ENSP00000379619.1:p.Arg896Ter", "hgvsWellDefined": "ENSP00000379619.1:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277216" }, { "coordinates": [ { "allele": "T", "end": 2737, "referenceAllele": "C", "start": 2736 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "ENST00000557913.5:c.2677C>T" ], "proteinEffect": { "hgvs": "ENSP00000453378.1:p.Arg893Ter", "hgvsWellDefined": "ENSP00000453378.1:p.Arg893_Ser1099delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373405" }, { "coordinates": [ { "allele": "T", "end": 2750, "referenceAllele": "C", "start": 2749 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "ENST00000559418.5:c.2716C>T" ], "proteinEffect": { "hgvs": "ENSP00000452765.1:p.Arg906Ter", "hgvsWellDefined": "ENSP00000452765.1:p.Arg906_Ser1112delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374565" }, { "@id": "http://reg.genome.network/allele/PA658829239", "coordinates": [ { "allele": "T", "end": 2728, "referenceAllele": "C", "start": 2727 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "NM_182758.3:c.2686C>T" ], "proteinEffect": { "hgvs": "NP_877435.3:p.Arg896Ter", "hgvsWellDefined": "NP_877435.3:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044113" }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "NR_102334.1:n.2926C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052781" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "C", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521433.1:c.2686C>T" ], "proteinEffect": { "hgvs": "XP_011519735.1:p.Arg896Ter", "hgvsWellDefined": "XP_011519735.1:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088594" }, { "coordinates": [ { "allele": "T", "end": 2904, "referenceAllele": "C", "start": 2903 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521434.1:c.2686C>T" ], "proteinEffect": { "hgvs": "XP_011519736.1:p.Arg896Ter", "hgvsWellDefined": "XP_011519736.1:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088595" }, { "coordinates": [ { "allele": "T", "end": 2769, "referenceAllele": "C", "start": 2768 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521435.1:c.2686C>T" ], "proteinEffect": { "hgvs": "XP_011519737.1:p.Arg896Ter", "hgvsWellDefined": "XP_011519737.1:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088596" }, { "coordinates": [ { "allele": "T", "end": 2755, "referenceAllele": "C", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521436.1:c.2668C>T" ], "proteinEffect": { "hgvs": "XP_011519738.1:p.Arg890Ter", "hgvsWellDefined": "XP_011519738.1:p.Arg890_Ser1096delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088597" }, { "coordinates": [ { "allele": "T", "end": 2653, "referenceAllele": "C", "start": 2652 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521437.1:c.2566C>T" ], "proteinEffect": { "hgvs": "XP_011519739.1:p.Arg856Ter", "hgvsWellDefined": "XP_011519739.1:p.Arg856_Ser1062delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088598" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "C", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521433.2:c.2686C>T" ], "proteinEffect": { "hgvs": "XP_011519735.1:p.Arg896Ter", "hgvsWellDefined": "XP_011519735.1:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546149" }, { "coordinates": [ { "allele": "T", "end": 2779, "referenceAllele": "C", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521435.2:c.2686C>T" ], "proteinEffect": { "hgvs": "XP_011519737.1:p.Arg896Ter", "hgvsWellDefined": "XP_011519737.1:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546150" }, { "coordinates": [ { "allele": "T", "end": 2754, "referenceAllele": "C", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521436.2:c.2668C>T" ], "proteinEffect": { "hgvs": "XP_011519738.1:p.Arg890Ter", "hgvsWellDefined": "XP_011519738.1:p.Arg890_Ser1096delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546151" }, { "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_011521437.2:c.2566C>T" ], "proteinEffect": { "hgvs": "XP_011519739.1:p.Arg856Ter", "hgvsWellDefined": "XP_011519739.1:p.Arg856_Ser1062delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546152" }, { "coordinates": [ { "allele": "T", "end": 2723, "referenceAllele": "C", "start": 2722 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "XM_017022061.1:c.2686C>T" ], "proteinEffect": { "hgvs": "XP_016877550.1:p.Arg896Ter", "hgvsWellDefined": "XP_016877550.1:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573112" }, { "@id": "http://reg.genome.network/allele/PA658829239", "coordinates": [ { "allele": "T", "end": 2729, "referenceAllele": "C", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "NM_182758.4:c.2686C>T" ], "proteinEffect": { "hgvs": "NP_877435.3:p.Arg896Ter", "hgvsWellDefined": "NP_877435.3:p.Arg896_Ser1102delinsGluSerAspThrIleValTyrLeuLeuSerArgLeuPheLeuValAsnLysLeuValAsnMetProLeuGluLeuAlaCysArgValGlySerSerPheArgMetGluSerIleHisAsnLysMetArgGlyAlaGlyAsnAspIleLeuAsnMetSerSerPheTyrSerCysLeuArgAsnGlyLysAsnGluSerHisValProGluAlaAspLeuSerLeuLeuLysLeuIleSerCysTrpArgAspGlnSerValGlnValThrGluAlaIleGlnAlaValLeuLeuAlaGluValGlnGlnHisMetLysSerLeuGlyLysIleProValAsnSerGlnProValSerMetAlaGluAsnGlyAsnCysGluMetLysGlnMetLeuProLysLeuGluTrpThrGluGluLeuGluLeuGlnCysValArgAsnThrLeuProLeuGlnThrProValSerProValLysHisAspSerAsnSerAsnSerAlaAsnPheGlnAspValGluAspMetProAspArgCysAlaLeuGluGluSerGluSerProGlyGluProArgHisHisSerTrpIleAlaLysValCysProCysLysValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673020", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360509.10:c.2686C>T" }, "RefSeq": { "hgvs": "NM_182758.4:c.2686C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000353699.5:p.Arg896Ter" }, "RefSeq": { "hgvs": "NP_877435.3:p.Arg896Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN026790", "geneNCBI_id": 256764, "geneSymbol": "WDR72", "hgvs": [ "NR_102334.2:n.2926C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730562" } ], "type": "nucleotide" }