{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340661", "communityStandardTitle": [ "NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2TyrfsTer3)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22286[alleleid]", "alleleId": 22286, "preferredName": "NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7247", "RCV": [ "RCV000007669" ], "variationId": 7247 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.79795110_79795112delinsTACGGATAG?assembly=hg19", "id": "chr10:g.79795110_79795112delinsTACGGATAG" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.78035352_78035354delinsTACGGATAG?assembly=hg38", "id": "chr10:g.78035352_78035354delinsTACGGATAG" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/116840806", "rs": 116840806 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "TACGGATAG", "end": 78035354, "referenceAllele": "AAC", "start": 78035351 } ], "hgvs": [ "NC_000010.11:g.78035352_78035354delinsTACGGATAG", "CM000672.2:g.78035352_78035354delinsTACGGATAG" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "TACGGATAG", "end": 79795112, "referenceAllele": "AAC", "start": 79795109 } ], "hgvs": [ "NC_000010.10:g.79795110_79795112delinsTACGGATAG", "CM000672.1:g.79795110_79795112delinsTACGGATAG" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "TACGGATAG", "end": 79465118, "referenceAllele": "AAC", "start": 79465115 } ], "hgvs": [ "NC_000010.9:g.79465116_79465118delinsTACGGATAG" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 6595, "referenceAllele": "AAC", "start": 6592 } ], "hgvs": [ "NG_012633.1:g.6593_6595delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS002488" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000360830.9:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000354074.5:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000354074.5:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Phe60_Lys131delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS749364" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000372360.9:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000361435.4:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000361435.4:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Phe60_Lys130delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS750986", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372360.9:c.4_6delinsTACGGATAG" }, "RefSeq": { "hgvs": "NM_033022.4:c.4_6delinsTACGGATAG" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361435.4:p.Asn2TyrfsTer3" }, "RefSeq": { "hgvs": "NP_148982.1:p.Asn2TyrfsTer3" } } } }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000440692.6:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000414321.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000414321.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer;Phe60_His289delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS755807" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000464716.6:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000494231.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000494231.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer;Phe60_Lys132delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS756809" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 17, "referenceAllele": "AAC", "start": 14 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000465692.2:n.15_17delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS756849" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 22, "referenceAllele": "AAC", "start": 19 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000466129.6:n.20_22delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS756864" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 416, "referenceAllele": "AAC", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000475468.6:n.414_416delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS757154" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 31, "referenceAllele": "AAC", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000476545.6:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000494169.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000494169.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysAlaSerLeuGluArgGlyArgArgAlaLeuGlnPheLeuTrpHisLeuHisAlaAlaCysLysThrGlyCysPhePhePheCysLeuTrpMetArgHisArgGlyTer;Lys49_Arg164delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysAlaSerLeuGluArgGlyArgArgAlaLeuGlnPheLeuTrpHisLeuHisAlaAlaCysLysThrGlyCysPhePhePheCysLeuTrpMetArgHisArgGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS757192" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000478655.6:n.43_45delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS757269" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000485708.7:n.43_45delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS757515" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000613865.5:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000478869.2:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000478869.2:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Phe60_Glu133delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS761938" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 72, "referenceAllele": "AAC", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000645440.1:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000496738.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000496738.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Phe60_Lys131delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS768351" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 34, "referenceAllele": "AAC", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000645698.1:n.32_34delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS768507" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 215, "referenceAllele": "AAC", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000646254.1:n.213_215delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS768777" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 25, "referenceAllele": "AAC", "start": 22 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000360830.8:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000354074.4:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000354074.4:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Phe60_Lys130delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS265261" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 43, "referenceAllele": "AAC", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000372360.7:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000361435.3:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000361435.3:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Phe60_Glu133delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS269056" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000435275.5:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000415549.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000415549.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysGlnTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysGlnTer;Phe60_Gln131delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysGlnTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS293455" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000440692.5:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000414321.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000414321.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer;Phe60_His289delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS296014" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 34, "referenceAllele": "AAC", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000464716.5:n.32_34delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS308479" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 3, "referenceAllele": "AAC", "start": 0 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000465692.1:n.1_3delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS309243" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 22, "referenceAllele": "AAC", "start": 19 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000466129.5:n.20_22delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS309574" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 416, "referenceAllele": "AAC", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000475468.5:n.414_416delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS316744" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 30, "referenceAllele": "AAC", "start": 27 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000476545.5:n.28_30delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS317570" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000478655.5:n.43_45delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS319216" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 73, "referenceAllele": "AAC", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000482069.5:n.71_73delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS321855" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 64, "referenceAllele": "AAC", "start": 61 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000485708.6:n.62_64delinsTACGGATAG" ], "referenceSequence": "http://reg.genome.network/refseq/RS324675" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "ENST00000613865.4:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "ENSP00000478869.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "ENSP00000478869.1:p.[Asn2_Met47del;Lys49_Phe58del;Phe60_Arg132del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS401921" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001026.4:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001017.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001017.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Phe60_Glu133delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS008904" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142282.1:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001135754.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001135754.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Phe60_Lys131delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS012801" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142283.1:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001135755.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001135755.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer;Phe60_Lys132delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS012802" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142284.1:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001135756.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001135756.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Phe60_Lys131delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS012803" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142285.1:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001135757.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001135757.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer;Phe60_His289delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS012804" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 148, "referenceAllele": "AAC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_033022.3:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_148982.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_148982.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Phe60_Lys130delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS039472" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 210, "referenceAllele": "AAC", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540034.1:c.157_159delinsTACGGATAG" ], "proteinEffect": { "hgvs": "XP_011538336.1:p.Asn53TyrfsTer3", "hgvsWellDefined": "XP_011538336.1:p.[Asn53_Met98delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Lys100_Phe109delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Phe111_Glu184delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS106984" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 210, "referenceAllele": "AAC", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540035.1:c.157_159delinsTACGGATAG" ], "proteinEffect": { "hgvs": "XP_011538337.1:p.Asn53TyrfsTer3", "hgvsWellDefined": "XP_011538337.1:p.[Asn53_Met98delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer;Lys100_Phe109delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer;Phe111_Lys183delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS106985" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 210, "referenceAllele": "AAC", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540036.1:c.157_159delinsTACGGATAG" ], "proteinEffect": { "hgvs": "XP_011538338.1:p.Asn53TyrfsTer3", "hgvsWellDefined": "XP_011538338.1:p.[Asn53_Met98delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Lys100_Phe109delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Phe111_Lys182delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS106986" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 210, "referenceAllele": "AAC", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540037.1:c.157_159delinsTACGGATAG" ], "proteinEffect": { "hgvs": "XP_011538339.1:p.Asn53TyrfsTer3", "hgvsWellDefined": "XP_011538339.1:p.[Asn53_Met98delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Lys100_Phe109delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Phe111_Lys182delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS106987" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 210, "referenceAllele": "AAC", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "XM_011540038.1:c.157_159delinsTACGGATAG" ], "proteinEffect": { "hgvs": "XP_011538340.1:p.Asn53TyrfsTer3", "hgvsWellDefined": "XP_011538340.1:p.[Asn53_Met98delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Lys100_Phe109delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Phe111_Lys181delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS106988" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142285.2:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001135757.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001135757.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer;Phe60_His289delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysMetArgGluLeuGlyLeuGlyValGlnAlaLeuGlyArgIleSerGlnGluGluArgCysThrAspValLysAsnSerLysAlaArgGluSerArgGlyValValTrpGlnValGluValProGlyProTrpSerValTrpThrCysGlyArgLeuArgArgGlyCysGlyLysTyrLeuGlnValAlaValThrTrpArgLysThrGluAsnArgGluGlnCysCysGlnAlaCysLeuLeuGluArgAlaLeuValArgAsnGlyAlaPheMetSerProAlaSerProAlaProAlaGlySerProHisProValAspGlyAspLeuValLeuHisLeuProGluAlaLeuSerAlaThrLeuThrLeuSerProHisIleGlnAlaIleAsnLysSerPheGlyProPhePheGluIleHisGlnGluSerSerCysPheSerProProSerCysLeuSerGlyLeuGlyHisTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS677492" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_033022.4:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_148982.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_148982.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer;Phe60_Lys130delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS699247", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000372360.9:c.4_6delinsTACGGATAG" }, "RefSeq": { "hgvs": "NM_033022.4:c.4_6delinsTACGGATAG" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361435.4:p.Asn2TyrfsTer3" }, "RefSeq": { "hgvs": "NP_148982.1:p.Asn2TyrfsTer3" } } } }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001026.5:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001017.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001017.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer;Phe60_Glu133delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysProLysGluTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711467" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142282.2:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001135754.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001135754.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Phe60_Lys131delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712540" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142283.2:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001135755.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001135755.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer;Phe60_Lys132delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712541" }, { "coordinates": [ { "allele": "TACGGATAG", "end": 45, "referenceAllele": "AAC", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN010411", "geneNCBI_id": 6229, "geneSymbol": "RPS24", "hgvs": [ "NM_001142284.2:c.4_6delinsTACGGATAG" ], "proteinEffect": { "hgvs": "NP_001135756.1:p.Asn2TyrfsTer3", "hgvsWellDefined": "NP_001135756.1:p.[Asn2_Met47delinsAspThrValThrIleArgThrArgLysPheMetThrAsnArgLeuLeuGlnArgLysGlnMetValIleAspValLeuHisProGlyLysAlaThrValProLysThrGluIleArgGluLysLeuAlaLysMetTyrLysThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Lys49_Phe58delinsThrThrProAspValIlePheValPheGlyPheArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer;Phe60_Lys131delinsArgThrHisPheGlyGlyGlyLysThrThrGlyPheGlyMetIleTyrAspSerLeuAspTyrAlaLysLysAsnGluProLysHisArgLeuAlaArgHisGlyLeuTyrGluLysLysLysThrSerArgLysGlnArgLysGluArgLysAsnArgMetLysLysValArgGlyThrAlaLysAlaAsnValGlyAlaGlyLysLysLysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712542" } ], "type": "nucleotide" }