{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA261776", "communityStandardTitle": [ "NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2161045", "active": true, "id": "COSM2161045" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55085[alleleid]", "alleleId": 55085, "preferredName": "NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45920", "RCV": [ "RCV000039153", "RCV001852820", "RCV001291210", "RCV002283447" ], "variationId": 45920 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.73485179C>T?assembly=hg19", "id": "chr10:g.73485179C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.71725422C>T?assembly=hg38", "id": "chr10:g.71725422C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397517323", "rs": 397517323 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/10-71725422-C-T?dataset=gnomad_r4", "id": "10-71725422-C-T", "variant": "10:71725422 C / T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 71725422, "referenceAllele": "C", "start": 71725421 } ], "hgvs": [ "NC_000010.11:g.71725422C>T", "CM000672.2:g.71725422C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73485179, "referenceAllele": "C", "start": 73485178 } ], "hgvs": [ "NC_000010.10:g.73485179C>T", "CM000672.1:g.73485179C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 73155185, "referenceAllele": "C", "start": 73155184 } ], "hgvs": [ "NC_000010.9:g.73155185C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 333476, "referenceAllele": "C", "start": 333475 } ], "hgvs": [ "NG_008835.1:g.333476C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3885, "referenceAllele": "C", "start": 3884 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.12:c.3481C>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.9:p.Arg1161Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS740637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3481C>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.3481C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg1161Ter" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg1161Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3868, "referenceAllele": "C", "start": 3867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.9:c.3478C>T" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Arg1160Ter", "hgvsWellDefined": "ENSP00000381789.5:p.Arg1160_Ile1380delinsGlyProArgProLeuAspArgGluArgAsnSerSerHisValLeuIleValGluAlaTyrAsnHisAspLeuGlyProMetArgSerSerValArgValIleValTyrValGluAspIleAsnAspGluAlaProValPheThrGlnGlnGlnTyrSerArgLeuGlyLeuArgGluThrAlaGlyIleGlyThrSerValIleValValGlnAlaThrAspArgAspSerGlyAspGlyGlyLeuValAsnTyrArgIleLeuSerGlyAlaGluGlyLysPheGluIleAspGluSerThrGlyLeuIleIleThrValAsnTyrLeuAspTyrGluThrLysThrSerTyrMetMetAsnValSerAlaThrAspGlnAlaProProPheAsnGlnGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753788" }, { "coordinates": [ { "allele": "T", "end": 3886, "referenceAllele": "C", "start": 3885 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000224721.10:c.3496C>T" ], "proteinEffect": { "hgvs": "ENSP00000224721.8:p.Arg1166Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS248471" }, { "coordinates": [ { "allele": "A", "end": 97, "endIntronDirection": "-", "endIntronOffset": 9079, "referenceAllele": "G", "start": 97, "startIntronDirection": "-", "startIntronOffset": 9080 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "ENST00000398786.2:c.-5-9080G>A" ], "proteinEffect": { "hgvs": "ENSP00000381766.3:n.-5-9080G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS278418" }, { "coordinates": [ { "allele": "T", "end": 271, "endIntronDirection": "+", "endIntronOffset": 1317, "referenceAllele": "C", "start": 271, "startIntronDirection": "+", "startIntronOffset": 1316 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398792.3:n.271+1317C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS278420" }, { "coordinates": [ { "allele": "T", "end": 3868, "referenceAllele": "C", "start": 3867 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000398809.8:c.3478C>T" ], "proteinEffect": { "hgvs": "ENSP00000381789.5:p.Arg1160Ter", "hgvsWellDefined": "ENSP00000381789.5:p.Arg1160_Ile1380delinsGlyProArgProLeuAspArgGluArgAsnSerSerHisValLeuIleValGluAlaTyrAsnHisAspLeuGlyProMetArgSerSerValArgValIleValTyrValGluAspIleAsnAspGluAlaProValPheThrGlnGlnGlnTyrSerArgLeuGlyLeuArgGluThrAlaGlyIleGlyThrSerValIleValValGlnAlaThrAspArgAspSerGlyAspGlyGlyLeuValAsnTyrArgIleLeuSerGlyAlaGluGlyLysPheGluIleAspGluSerThrGlyLeuIleIleThrValAsnTyrLeuAspTyrGluThrLysThrSerTyrMetMetAsnValSerAlaThrAspGlnAlaProProPheAsnGlnGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278430" }, { "coordinates": [ { "allele": "T", "end": 3843, "referenceAllele": "C", "start": 3842 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000616684.4:c.3481C>T" ], "proteinEffect": { "hgvs": "ENSP00000482036.2:p.Arg1161Ter", "hgvsWellDefined": "ENSP00000482036.2:p.Arg1161_Ile1381delinsGlyProArgProLeuAspArgGluArgAsnSerSerHisValLeuIleValGluAlaTyrAsnHisAspLeuGlyProMetArgSerSerValArgValIleValTyrValGluAspIleAsnAspGluAlaProValPheThrGlnGlnGlnTyrSerArgLeuGlyLeuArgGluThrAlaGlyIleGlyThrSerValIleValValGlnAlaThrAspArgAspSerGlyAspGlyGlyLeuValAsnTyrArgIleLeuSerGlyAlaGluGlyLysPheGluIleAspGluSerThrGlyLeuIleIleThrValAsnTyrLeuAspTyrGluThrLysThrSerTyrMetMetAsnValSerAlaThrAspGlnAlaProProPheAsnGlnGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403156" }, { "coordinates": [ { "allele": "T", "end": 3871, "referenceAllele": "C", "start": 3870 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "ENST00000622827.4:c.3481C>T" ], "proteinEffect": { "hgvs": "ENSP00000483211.1:p.Arg1161Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS405902" }, { "coordinates": [ { "allele": "A", "end": 97, "endIntronDirection": "-", "endIntronOffset": 9079, "referenceAllele": "G", "start": 97, "startIntronDirection": "-", "startIntronOffset": 9080 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.1:c.-5-9080G>A" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-5-9080G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015107" }, { "@id": "http://reg.genome.network/allele/PA2826092864", "coordinates": [ { "allele": "T", "end": 3871, "referenceAllele": "C", "start": 3870 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.1:c.3481C>T" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Arg1161Ter", "hgvsWellDefined": "NP_001165401.1:p.Arg1161_Ile1381delinsGlyProArgProLeuAspArgGluArgAsnSerSerHisValLeuIleValGluAlaTyrAsnHisAspLeuGlyProMetArgSerSerValArgValIleValTyrValGluAspIleAsnAspGluAlaProValPheThrGlnGlnGlnTyrSerArgLeuGlyLeuArgGluThrAlaGlyIleGlyThrSerValIleValValGlnAlaThrAspArgAspSerGlyAspGlyGlyLeuValAsnTyrArgIleLeuSerGlyAlaGluGlyLysPheGluIleAspGluSerThrGlyLeuIleIleThrValAsnTyrLeuAspTyrGluThrLysThrSerTyrMetMetAsnValSerAlaThrAspGlnAlaProProPheAsnGlnGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015391" }, { "coordinates": [ { "allele": "T", "end": 3871, "referenceAllele": "C", "start": 3870 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.3481C>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg1161Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "T", "end": 3853, "referenceAllele": "C", "start": 3852 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.3610C>T" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Arg1204Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS072394" }, { "coordinates": [ { "allele": "A", "end": 787, "endIntronDirection": "+", "endIntronOffset": 985, "referenceAllele": "G", "start": 787, "startIntronDirection": "+", "startIntronOffset": 984 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "XM_011539810.1:c.-6+985G>A" ], "proteinEffect": { "hgvs": "XP_011538112.1:n.-6+985G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS106760" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540039.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538341.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106989" }, { "coordinates": [ { "allele": "T", "end": 3913, "referenceAllele": "C", "start": 3912 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540040.1:c.3670C>T" ], "proteinEffect": { "hgvs": "XP_011538342.1:p.Arg1224Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106990" }, { "coordinates": [ { "allele": "T", "end": 3871, "referenceAllele": "C", "start": 3870 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540041.1:c.3616C>T" ], "proteinEffect": { "hgvs": "XP_011538343.1:p.Arg1206Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106991" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540042.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538344.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106992" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540043.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538345.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106993" }, { "coordinates": [ { "allele": "T", "end": 3603, "referenceAllele": "C", "start": 3602 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540044.1:c.3541C>T" ], "proteinEffect": { "hgvs": "XP_011538346.1:p.Arg1181Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106994" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540045.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538347.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106995" }, { "coordinates": [ { "allele": "T", "end": 3341, "referenceAllele": "C", "start": 3340 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540046.1:c.3136C>T" ], "proteinEffect": { "hgvs": "XP_011538348.1:p.Arg1046Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "T", "end": 2509, "referenceAllele": "C", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.2494C>T" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Arg832Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106997" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540048.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538350.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106998" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540049.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538351.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS106999" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540050.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538352.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS107000" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540051.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538353.1:p.Arg1226Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS107001" }, { "coordinates": [ { "allele": "T", "end": 142, "referenceAllele": "C", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540052.1:c.4C>T" ], "proteinEffect": { "hgvs": "XP_011538354.1:p.Arg2Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540053.1:c.3676C>T" ], "proteinEffect": { "hgvs": "XP_011538355.1:p.Arg1226Ter", "hgvsWellDefined": "XP_011538355.1:p.Arg1226_Leu2042delinsGlyProArgProLeuAspArgGluArgAsnSerSerHisValLeuIleValGluAlaTyrAsnHisAspLeuGlyProMetArgSerSerValArgValIleValTyrValGluAspIleAsnAspGluAlaProValPheThrGlnGlnGlnTyrSerArgLeuGlyLeuArgGluThrAlaGlyIleGlyThrSerValIleValValGlnAlaThrAspArgAspSerGlyAspGlyGlyLeuValAsnTyrArgIleLeuSerGlyAlaGluGlyLysPheGluIleAspGluSerThrGlyLeuIleIleThrValAsnTyrLeuAspTyrGluThrLysThrSerTyrMetMetAsnValSerAlaThrAspGlnAlaProProPheAsnGlnGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrGlyValIleThrValGlnGlyLeuValAspArgGluLysGlyAspPheTyrThrLeuThrValValAlaAspAspGlyGlyProLysValAspSerThrValLysValTyrIleThrValLeuAspGluAsnAspAsnSerProArgPheAspPheThrSerAspSerAlaValSerIleProGluAspCysProValGlyGlnArgValAlaThrValLysAlaTrpAspProAspAlaGlySerAsnGlyGlnValValPheSerLeuAlaSerGlyAsnIleAlaGlyAlaPheGluIleValThrThrAsnAspSerIleGlyGluValPheValAlaArgProLeuAspArgGluGluLeuAspHisTyrIleLeuGlnValValAlaSerAspArgGlyThrProProArgLysLysAspHisIleLeuGlnValThrIleLeuAspIleAsnAspAsnProProValIleGluSerProPheGlyTyrAsnValSerValAsnGluAsnValGlyGlyGlyThrAlaValValGlnValArgAlaThrAspArgAspIleGlyIleAsnSerValLeuSerTyrTyrIleThrGluGlyAsnLysAspMetAlaPheArgMetAspArgIleSerGlyGluIleAlaThrArgProAlaProProAspArgGluArgGlnSerPheTyrHisLeuValAlaThrValGluAspGluGlyThrProThrLeuSerAlaThrThrHisValTyrValThrIleValAspGluAsnAspAsnAlaProMetPheGlnGlnProHisTyrGluValLeuLeuAspGluGlyProAspThrLeuAsnThrSerLeuIleThrIleGlnAlaLeuAspLeuAspGluGlyProAsnGlyThrValThrTyrAlaIleValAlaGlyAsnIleValAsnThrPheArgIleAspArgHisMetGlyValIleThrAlaAlaLysGluLeuAspTyrGluIleSerHisGlyArgTyrThrLeuIleValThrAlaThrAspGlnCysProIleLeuSerHisArgLeuThrSerThrThrThrValLeuValAsnValAsnAspIleAsnAspAsnValProThrPheProArgAspTyrGluGlyProPheGluValThrGluGlyGlnProGlyProArgValTrpThrPheLeuAlaHisAspArgAspSerGlyProAsnGlyGlnValGluTyrSerIleMetAspGlyAspProLeuGlyGluPheValIleSerProValGluGlyValLeuArgValArgLysAspValGluLeuAspArgGluThrIleAlaPheTyrAsnLeuThrIleCysAlaArgAspArgGlyMetProProLeuSerSerThrMetLeuValGlyIleArgValLeuAspIleAsnAspAsnAspProValLeuLeuAsnLeuProMetAsnIleThrIleSerGluAsnSerProValSerSerPheValAlaHisValLeuAlaSerAspAlaAspSerGlyCysAsnAlaArgLeuThrPheAsnIleThrAlaGlyAsnArgGluArgAlaPhePheIleAsnAlaThrThrGlyIleValThrValAsnArgProLeuAspArgGluArgIleProGluTyrLysLeuThrIleSerValLysAspAsnProGluAsnProArgIleAlaArgArgAspTyrAspLeuLeuLeuIlePheLeuSerAspGluAsnAspAsnHisProLeuPheThrLysSerThrTyrGlnAlaGluValMetGluAsnSerProAlaAlaGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS107003" }, { "coordinates": [ { "allele": "T", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XR_945796.1:n.3919C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS139429" }, { "coordinates": [ { "allele": "A", "end": 123, "endIntronDirection": "-", "endIntronOffset": 9079, "referenceAllele": "G", "start": 123, "startIntronDirection": "-", "startIntronOffset": 9080 } ], "gene": "http://reg.genome.network/gene/GN020304", "geneNCBI_id": 414152, "geneSymbol": "C10orf105", "hgvs": [ "NM_001168390.2:c.-5-9080G>A" ], "proteinEffect": { "hgvs": "NP_001161862.1:n.-5-9080G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS678588" }, { "@id": "http://reg.genome.network/allele/PA2826092864", "coordinates": [ { "allele": "T", "end": 3885, "referenceAllele": "C", "start": 3884 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171930.2:c.3481C>T" ], "proteinEffect": { "hgvs": "NP_001165401.1:p.Arg1161Ter", "hgvsWellDefined": "NP_001165401.1:p.Arg1161_Ile1381delinsGlyProArgProLeuAspArgGluArgAsnSerSerHisValLeuIleValGluAlaTyrAsnHisAspLeuGlyProMetArgSerSerValArgValIleValTyrValGluAspIleAsnAspGluAlaProValPheThrGlnGlnGlnTyrSerArgLeuGlyLeuArgGluThrAlaGlyIleGlyThrSerValIleValValGlnAlaThrAspArgAspSerGlyAspGlyGlyLeuValAsnTyrArgIleLeuSerGlyAlaGluGlyLysPheGluIleAspGluSerThrGlyLeuIleIleThrValAsnTyrLeuAspTyrGluThrLysThrSerTyrMetMetAsnValSerAlaThrAspGlnAlaProProPheAsnGlnGlyPheCysSerValTyrIleThrLeuLeuAsnGluLeuAspGluAlaValGlnPheSerAsnAlaSerTyrGluAlaAlaIleLeuGluAsnLeuAlaLeuGlyThrGluIleValArgValGlnAlaTyrSerIleAspAsnLeuAsnGlnIleThrTyrArgPheAsnAlaTyrThrSerThrGlnAlaLysAlaLeuPheLysIleAspAlaIleThrValArgGlyTrpGlyGlnGlyAlaProPheLeuProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678723" }, { "coordinates": [ { "allele": "T", "end": 3885, "referenceAllele": "C", "start": 3884 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.3481C>T" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Arg1161Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.3481C>T" }, "RefSeq": { "hgvs": "NM_022124.6:c.3481C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Arg1161Ter" }, "RefSeq": { "hgvs": "NP_071407.4:p.Arg1161Ter" } } } } ], "type": "nucleotide" }