{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253330", "communityStandardTitle": [ "NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19960[alleleid]", "alleleId": 19960, "preferredName": "NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4921", "RCV": [ "RCV000005203", "RCV001291211", "RCV001386699" ], "variationId": 4921 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73491908C>T?assembly=hg19", "id": "chr10:g.73491908C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71732151C>T?assembly=hg38", "id": "chr10:g.71732151C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908350", "rs": 121908350 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71732151-C-T?dataset=gnomad_r4", "id": "10-71732151-C-T", "variant": "10:71732151 C / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 71732151, "referenceAllele": "C", "start": 71732150 } ], "hgvs": [ "NC_000010.11:g.71732151C>T", "CM000672.2:g.71732151C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73491908, "referenceAllele": "C", "start": 73491907 } ], "hgvs": [ "NC_000010.10:g.73491908C>T", "CM000672.1:g.73491908C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73161914, "referenceAllele": "C", "start": 73161913 } ], "hgvs": [ "NC_000010.9:g.73161914C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 340205, "referenceAllele": "C", "start": 340204 } ], "hgvs": [ "NG_008835.1:g.340205C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4284, "referenceAllele": "C", "start": 4283 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.3880C>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Gln1294Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3880C>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.3880C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Gln1294Ter" }, "RefSeq": { "hgvs": "NP_071407.4:p.Gln1294Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4267, "referenceAllele": "C", "start": 4266 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.3877C>T" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Gln1293Ter", "hgvsWellDefined": "ENSP00000381789.5:p.Gln1293_Ile1380delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "T", "end": 4285, "referenceAllele": "C", "start": 4284 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.3895C>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Gln1299Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "A", "end": 97, "endIntronDirection": "+", "endIntronOffset": 5577, "referenceAllele": "G", "start": 97, "startIntronDirection": "+", "startIntronOffset": 5576 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "ENST00000398786.2:c.-6+5577G>A" ], "proteinEffect": { "hgvs": "ENSP00000381766.3:n.-6+5577G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS278418" }, { "coordinates": [ { "allele": "T", "end": 572, "referenceAllele": "C", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398792.3:n.572C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS278420" }, { "coordinates": [ { "allele": "T", "end": 4267, "referenceAllele": "C", "start": 4266 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.3877C>T" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Gln1293Ter", "hgvsWellDefined": "ENSP00000381789.5:p.Gln1293_Ile1380delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "T", "end": 4242, "referenceAllele": "C", "start": 4241 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.3880C>T" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Gln1294Ter", "hgvsWellDefined": "ENSP00000482036.2:p.Gln1294_Ile1381delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "C", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.3880C>T" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Gln1294Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "coordinates": [ { "allele": "A", "end": 97, "endIntronDirection": "+", "endIntronOffset": 5577, "referenceAllele": "G", "start": 97, "startIntronDirection": "+", "startIntronOffset": 5576 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.1:c.-6+5577G>A" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-6+5577G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015107" }, { "@id": "http://reg.genome.network/allele/PA2826093043", "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "C", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.3880C>T" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Gln1294Ter", "hgvsWellDefined": "NP_001165401.1:p.Gln1294_Ile1381delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "C", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.3880C>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Gln1294Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Gln1359Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "T", "end": 4252, "referenceAllele": "C", "start": 4251 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.4009C>T" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Gln1337Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Gln1359Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "T", "end": 4312, "referenceAllele": "C", "start": 4311 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.4069C>T" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Gln1357Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "C", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.4015C>T" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Gln1339Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Gln1359Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Gln1359Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "T", "end": 4002, "referenceAllele": "C", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.3940C>T" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Gln1314Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Gln1359Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "T", "end": 3740, "referenceAllele": "C", "start": 3739 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.3535C>T" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Gln1179Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "T", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.2893C>T" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Gln965Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Gln1359Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Gln1359Ter", "hgvsWellDefined": "XP_011538351.1:p.Gln1359_His2330delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrGlyValIleThrValGlnGlyLeuValAspArgGluLysGlyAspPheTyrThrLeuThrValValAlaAspAspGlyGlyProLysValAspSerThrValLysValTyrIleThrValLeuAspGluAsnAspAsnSerProArgPheAspPheThrSerAspSerAlaValSerIleProGluAspCysProValGlyGlnArgValAlaThrValLysAlaTrpAspProAspAlaGlySerAsnGlyGlnValValPheSerLeuAlaSerGlyAsnIleAlaGlyAlaPheGluIleValThrThrAsnAspSerIleGlyGluValPheValAlaArgProLeuAspArgGluGluLeuAspHisTyrIleLeuGlnValValAlaSerAspArgGlyThrProProArgLysLysAspHisIleLeuGlnValThrIleLeuAspIleAsnAspAsnProProValIleGluSerProPheGlyTyrAsnValSerValAsnGluAsnValGlyGlyGlyThrAlaValValGlnValArgAlaThrAspArgAspIleGlyIleAsnSerValLeuSerTyrTyrIleThrGluGlyAsnLysAspMetAlaPheArgMetAspArgIleSerGlyGluIleAlaThrArgProAlaProProAspArgGluArgGlnSerPheTyrHisLeuValAlaThrValGluAspGluGlyThrProThrLeuSerAlaThrThrHisValTyrValThrIleValAspGluAsnAspAsnAlaProMetPheGlnGlnProHisTyrGluValLeuLeuAspGluGlyProAspThrLeuAsnThrSerLeuIleThrIleGlnAlaLeuAspLeuAspGluGlyProAsnGlyThrValThrTyrAlaIleValAlaGlyAsnIleValAsnThrPheArgIleAspArgHisMetGlyValIleThrAlaAlaLysGluLeuAspTyrGluIleSerHisGlyArgTyrThrLeuIleValThrAlaThrAspGlnCysProIleLeuSerHisArgLeuThrSerThrThrThrValLeuValAsnValAsnAspIleAsnAspAsnValProThrPheProArgAspTyrGluGlyProPheGluValThrGluGlyGlnProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaGlyThrProLeuThrValLeuAsnGlyProIleLeuAlaLeuAspAlaAspGlnAspIleTyrAlaValValThrTyrGlnLeuLeuGlyAlaGlnSerGlyLeuPheAspIleAsnSerSerThrGlyValValThrValArgSerGlyValIleIleAspArgGluAlaPheSerProProIleLeuGluLeuLeuLeuLeuAlaGluAspIleGlyLeuLeuAsnSerThrAlaHisLeuLeuIleThrIleLeuAspAspAsnAspAsnArgProThrPheSerProAlaThrLeuThrValHisLeuLeuGluAsnCysProProGlyPheSerValLeuGlnValThrAlaThrAspGluAspSerGlyLeuAsnGlyGluLeuValTyrArgIleGluAlaGlyAlaGlnAspArgPheLeuIleHisLeuValThrGlyValIleArgValGlyAsnAlaThrIleAspArgGluGluGlnGluSerTyrArgLeuThrValValAlaThrAspArgGlyThrValProLeuSerGlyThrAlaIleValThrIleLeuIleAspAspIleAsnAspSerArgProGluPheLeuAsnProIleGlnThrValSerValLeuGluSerAlaGluProGlyThrValIleAlaAsnIleThrAlaIleAspHisAspLeuAsnProLysLeuGluTyrHisIleValGlyIleValAlaLysAspAspThrAspArgLeuValProAsnGlnGluAspAlaPheAlaValAsnIleAsnThrGlyLysGlyHisGlyAlaAspThrCysThrSerTrpLysAlaGlnArgAsnAspArgArgIleAsnMetAlaValThrLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Gln1359Ter", "hgvsWellDefined": "XP_011538352.1:p.Gln1359_His2330delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrGlyValIleThrValGlnGlyLeuValAspArgGluLysGlyAspPheTyrThrLeuThrValValAlaAspAspGlyGlyProLysValAspSerThrValLysValTyrIleThrValLeuAspGluAsnAspAsnSerProArgPheAspPheThrSerAspSerAlaValSerIleProGluAspCysProValGlyGlnArgValAlaThrValLysAlaTrpAspProAspAlaGlySerAsnGlyGlnValValPheSerLeuAlaSerGlyAsnIleAlaGlyAlaPheGluIleValThrThrAsnAspSerIleGlyGluValPheValAlaArgProLeuAspArgGluGluLeuAspHisTyrIleLeuGlnValValAlaSerAspArgGlyThrProProArgLysLysAspHisIleLeuGlnValThrIleLeuAspIleAsnAspAsnProProValIleGluSerProPheGlyTyrAsnValSerValAsnGluAsnValGlyGlyGlyThrAlaValValGlnValArgAlaThrAspArgAspIleGlyIleAsnSerValLeuSerTyrTyrIleThrGluGlyAsnLysAspMetAlaPheArgMetAspArgIleSerGlyGluIleAlaThrArgProAlaProProAspArgGluArgGlnSerPheTyrHisLeuValAlaThrValGluAspGluGlyThrProThrLeuSerAlaThrThrHisValTyrValThrIleValAspGluAsnAspAsnAlaProMetPheGlnGlnProHisTyrGluValLeuLeuAspGluGlyProAspThrLeuAsnThrSerLeuIleThrIleGlnAlaLeuAspLeuAspGluGlyProAsnGlyThrValThrTyrAlaIleValAlaGlyAsnIleValAsnThrPheArgIleAspArgHisMetGlyValIleThrAlaAlaLysGluLeuAspTyrGluIleSerHisGlyArgTyrThrLeuIleValThrAlaThrAspGlnCysProIleLeuSerHisArgLeuThrSerThrThrThrValLeuValAsnValAsnAspIleAsnAspAsnValProThrPheProArgAspTyrGluGlyProPheGluValThrGluGlyGlnProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaGlyThrProLeuThrValLeuAsnGlyProIleLeuAlaLeuAspAlaAspGlnAspIleTyrAlaValValThrTyrGlnLeuLeuGlyAlaGlnSerGlyLeuPheAspIleAsnSerSerThrGlyValValThrValArgSerGlyValIleIleAspArgGluAlaPheSerProProIleLeuGluLeuLeuLeuLeuAlaGluAspIleGlyLeuLeuAsnSerThrAlaHisLeuLeuIleThrIleLeuAspAspAsnAspAsnArgProThrPheSerProAlaThrLeuThrValHisLeuLeuGluAsnCysProProGlyPheSerValLeuGlnValThrAlaThrAspGluAspSerGlyLeuAsnGlyGluLeuValTyrArgIleGluAlaGlyAlaGlnAspArgPheLeuIleHisLeuValThrGlyValIleArgValGlyAsnAlaThrIleAspArgGluGluGlnGluSerTyrArgLeuThrValValAlaThrAspArgGlyThrValProLeuSerGlyThrAlaIleValThrIleLeuIleAspAspIleAsnAspSerArgProGluPheLeuAsnProIleGlnThrValSerValLeuGluSerAlaGluProGlyThrValIleAlaAsnIleThrAlaIleAspHisAspLeuAsnProLysLeuGluTyrHisIleValGlyIleValAlaLysAspAspThrAspArgLeuValProAsnGlnGluAspAlaPheAlaValAsnIleAsnThrGlyLysGlyHisGlyAlaAspThrCysThrSerTrpLysAlaGlnArgAsnAspArgArgIleAsnMetAlaValThrLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Gln1359Ter", "hgvsWellDefined": "XP_011538353.1:p.Gln1359_Val2306delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrGlyValIleThrValGlnGlyLeuValAspArgGluLysGlyAspPheTyrThrLeuThrValValAlaAspAspGlyGlyProLysValAspSerThrValLysValTyrIleThrValLeuAspGluAsnAspAsnSerProArgPheAspPheThrSerAspSerAlaValSerIleProGluAspCysProValGlyGlnArgValAlaThrValLysAlaTrpAspProAspAlaGlySerAsnGlyGlnValValPheSerLeuAlaSerGlyAsnIleAlaGlyAlaPheGluIleValThrThrAsnAspSerIleGlyGluValPheValAlaArgProLeuAspArgGluGluLeuAspHisTyrIleLeuGlnValValAlaSerAspArgGlyThrProProArgLysLysAspHisIleLeuGlnValThrIleLeuAspIleAsnAspAsnProProValIleGluSerProPheGlyTyrAsnValSerValAsnGluAsnValGlyGlyGlyThrAlaValValGlnValArgAlaThrAspArgAspIleGlyIleAsnSerValLeuSerTyrTyrIleThrGluGlyAsnLysAspMetAlaPheArgMetAspArgIleSerGlyGluIleAlaThrArgProAlaProProAspArgGluArgGlnSerPheTyrHisLeuValAlaThrValGluAspGluGlyThrProThrLeuSerAlaThrThrHisValTyrValThrIleValAspGluAsnAspAsnAlaProMetPheGlnGlnProHisTyrGluValLeuLeuAspGluGlyProAspThrLeuAsnThrSerLeuIleThrIleGlnAlaLeuAspLeuAspGluGlyProAsnGlyThrValThrTyrAlaIleValAlaGlyAsnIleValAsnThrPheArgIleAspArgHisMetGlyValIleThrAlaAlaLysGluLeuAspTyrGluIleSerHisGlyArgTyrThrLeuIleValThrAlaThrAspGlnCysProIleLeuSerHisArgLeuThrSerThrThrThrValLeuValAsnValAsnAspIleAsnAspAsnValProThrPheProArgAspTyrGluGlyProPheGluValThrGluGlyGlnProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaGlyThrProLeuThrValLeuAsnGlyProIleLeuAlaLeuAspAlaAspGlnAspIleTyrAlaValValThrTyrGlnLeuLeuGlyAlaGlnSerGlyLeuPheAspIleAsnSerSerThrGlyValValThrValArgSerGlyValIleIleAspArgGluAlaPheSerProProIleLeuGluLeuLeuLeuLeuAlaGluAspIleGlyLeuLeuAsnSerThrAlaHisLeuLeuIleThrIleLeuAspAspAsnAspAsnArgProThrPheSerProAlaThrLeuThrValHisLeuLeuGluAsnCysProProGlyPheSerValLeuGlnValThrAlaThrAspGluAspSerGlyLeuAsnGlyGluLeuValTyrArgIleGluAlaGlyAlaGlnAspArgPheLeuIleHisLeuValThrGlyValIleArgValGlyAsnAlaThrIleAspArgGluGluGlnGluSerTyrArgLeuThrValValAlaThrAspArgGlyThrValProLeuSerGlyThrAlaIleValThrIleLeuIleAspAspIleAsnAspSerArgProGluPheLeuAsnProIleGlnThrValSerValLeuGluSerAlaGluProGlyThrValIleAlaAsnIleThrAlaIleAspHisAspLeuAsnProLysLeuGluTyrHisIleValGlyIleValAlaLysAspAspThrAspArgLeuValProAsnGlnGluAspAlaPheAlaValAsnIleAsnThrGlyProGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.403C>T" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Gln135Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.4075C>T" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Gln1359Ter", "hgvsWellDefined": "XP_011538355.1:p.Gln1359_Leu2042delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrGlyValIleThrValGlnGlyLeuValAspArgGluLysGlyAspPheTyrThrLeuThrValValAlaAspAspGlyGlyProLysValAspSerThrValLysValTyrIleThrValLeuAspGluAsnAspAsnSerProArgPheAspPheThrSerAspSerAlaValSerIleProGluAspCysProValGlyGlnArgValAlaThrValLysAlaTrpAspProAspAlaGlySerAsnGlyGlnValValPheSerLeuAlaSerGlyAsnIleAlaGlyAlaPheGluIleValThrThrAsnAspSerIleGlyGluValPheValAlaArgProLeuAspArgGluGluLeuAspHisTyrIleLeuGlnValValAlaSerAspArgGlyThrProProArgLysLysAspHisIleLeuGlnValThrIleLeuAspIleAsnAspAsnProProValIleGluSerProPheGlyTyrAsnValSerValAsnGluAsnValGlyGlyGlyThrAlaValValGlnValArgAlaThrAspArgAspIleGlyIleAsnSerValLeuSerTyrTyrIleThrGluGlyAsnLysAspMetAlaPheArgMetAspArgIleSerGlyGluIleAlaThrArgProAlaProProAspArgGluArgGlnSerPheTyrHisLeuValAlaThrValGluAspGluGlyThrProThrLeuSerAlaThrThrHisValTyrValThrIleValAspGluAsnAspAsnAlaProMetPheGlnGlnProHisTyrGluValLeuLeuAspGluGlyProAspThrLeuAsnThrSerLeuIleThrIleGlnAlaLeuAspLeuAspGluGlyProAsnGlyThrValThrTyrAlaIleValAlaGlyAsnIleValAsnThrPheArgIleAspArgHisMetGlyValIleThrAlaAlaLysGluLeuAspTyrGluIleSerHisGlyArgTyrThrLeuIleValThrAlaThrAspGlnCysProIleLeuSerHisArgLeuThrSerThrThrThrValLeuValAsnValAsnAspIleAsnAspAsnValProThrPheProArgAspTyrGluGlyProPheGluValThrGluGlyGlnProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaAlaGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "T", "end": 4318, "referenceAllele": "C", "start": 4317 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.4318C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "A", "end": 123, "endIntronDirection": "+", "endIntronOffset": 5577, "referenceAllele": "G", "start": 123, "startIntronDirection": "+", "startIntronOffset": 5576 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.2:c.-6+5577G>A" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-6+5577G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS678588" }, { "@id": "http://reg.genome.network/allele/PA2826093043", "coordinates": [ { "allele": "T", "end": 4284, "referenceAllele": "C", "start": 4283 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.3880C>T" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Gln1294Ter", "hgvsWellDefined": "NP_001165401.1:p.Gln1294_Ile1381delinsGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "coordinates": [ { "allele": "T", "end": 4284, "referenceAllele": "C", "start": 4283 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.3880C>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Gln1294Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3880C>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.3880C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Gln1294Ter" }, "RefSeq": { "hgvs": "NP_071407.4:p.Gln1294Ter" } } } } ], "type": "nucleotide" }