{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349401413", "communityStandardTitle": [ "NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4087124", "active": true, "id": "COSM4087124" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4087125", "active": true, "id": "COSM4087125" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4087126", "active": true, "id": "COSM4087126" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4087127", "active": true, "id": "COSM4087127" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=629034[alleleid]", "alleleId": 629034, "preferredName": "NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/640886", "RCV": [ "RCV000794012", "RCV002061140", "RCV002255166" ], "variationId": 640886 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.179393094G>A?assembly=hg19", "id": "chr2:g.179393094G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178528367G>A?assembly=hg38", "id": "chr2:g.178528367G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1477669354", "rs": 1477669354 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-178528367-G-A?dataset=gnomad_r3", "id": "2-178528367-G-A", "variant": "2:178528367 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-178528367-G-A?dataset=gnomad_r4", "id": "2-178528367-G-A", "variant": "2:178528367 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 178528367, "referenceAllele": "G", "start": 178528366 } ], "hgvs": [ "NC_000002.12:g.178528367G>A", "CM000664.2:g.178528367G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 179393094, "referenceAllele": "G", "start": 179393093 } ], "hgvs": [ "NC_000002.11:g.179393094G>A", "CM000664.1:g.179393094G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 179101340, "referenceAllele": "G", "start": 179101339 } ], "hgvs": [ "NC_000002.10:g.179101340G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 307436, "referenceAllele": "C", "start": 307435 } ], "hgvs": [ "NG_011618.3:g.307436C>T", "LRG_391:g.307436C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001855" }, { "coordinates": [ { "allele": "A", "end": 10541, "referenceAllele": "G", "start": 10540 } ], "hgvs": [ "NG_051363.1:g.10541G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616968" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 99805, "referenceAllele": "C", "start": 99804 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342992.11:c.99580C>T" ], "proteinEffect": { "hgvs": "ENSP00000343764.6:p.Arg33194Ter", "hgvsWellDefined": "ENSP00000343764.6:p.Arg33194_Ile33423delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824023" }, { "coordinates": [ { "allele": "T", "end": 80665, "referenceAllele": "C", "start": 80664 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000342175.11:c.80665C>T" ], "proteinEffect": { "hgvs": "ENSP00000340554.6:p.Arg26889Ter", "hgvsWellDefined": "ENSP00000340554.6:p.Arg26889_Ile27118delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748044" }, { "coordinates": [ { "allele": "T", "end": 80464, "referenceAllele": "C", "start": 80463 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.10:c.80464C>T" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Arg26822Ter", "hgvsWellDefined": "ENSP00000352154.5:p.Arg26822_Ile27051delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" 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"referenceAllele": "C", "start": 80688 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000359218.9:c.80464C>T" ], "proteinEffect": { "hgvs": "ENSP00000352154.5:p.Arg26822Ter", "hgvsWellDefined": "ENSP00000352154.5:p.Arg26822_Ile27051delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264719" }, { "coordinates": [ { "allele": "T", "end": 80314, "referenceAllele": "C", "start": 80313 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000460472.6:c.80089C>T" ], "proteinEffect": { "hgvs": "ENSP00000434586.1:p.Arg26697Ter", "hgvsWellDefined": 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"hgvs": [ "ENST00000589042.5:c.107284C>T" ], "proteinEffect": { "hgvs": "ENSP00000467141.1:p.Arg35762Ter", "hgvsWellDefined": "ENSP00000467141.1:p.Arg35762_Ile35991delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS391210", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000589042.5:c.107284C>T" }, "RefSeq": { "hgvs": "NM_001267550.2:c.107284C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000467141.1:p.Arg35762Ter" }, "RefSeq": { "hgvs": "NP_001254479.2:p.Arg35762Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 102586, "referenceAllele": "C", "start": 102585 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "ENST00000591111.5:c.102361C>T" ], "proteinEffect": { "hgvs": "ENSP00000465570.1:p.Arg34121Ter", "hgvsWellDefined": 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"hgvs": [ "ENST00000615779.4:c.102361C>T" ], "proteinEffect": { "hgvs": "ENSP00000483597.1:p.Arg34121Ter", "hgvsWellDefined": "ENSP00000483597.1:p.Arg34121_Ile34350delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402761" }, { "@id": "http://reg.genome.network/allele/PA2826429355", 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"http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "NM_001267550.2:c.107284C>T" ], "proteinEffect": { "hgvs": "NP_001254479.2:p.Arg35762Ter", "hgvsWellDefined": "NP_001254479.2:p.Arg35762_Ile35991delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": 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101379 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453096.1:c.101155C>T" ], "proteinEffect": { "hgvs": "XP_024308864.1:p.Arg33719Ter", "hgvsWellDefined": "XP_024308864.1:p.Arg33719_Ile33948delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586483" }, { "coordinates": [ { "allele": "T", "end": 98722, "referenceAllele": "C", "start": 98721 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453097.1:c.98497C>T" ], "proteinEffect": { "hgvs": "XP_024308865.1:p.Arg32833Ter", "hgvsWellDefined": "XP_024308865.1:p.Arg32833_Ile33062delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586484" }, { "coordinates": [ { "allele": "T", "end": 98641, "referenceAllele": "C", "start": 98640 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453098.1:c.98416C>T" ], "proteinEffect": { "hgvs": "XP_024308866.1:p.Arg32806Ter", "hgvsWellDefined": "XP_024308866.1:p.Arg32806_Ile33035delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586485" }, { "coordinates": [ { "allele": "T", "end": 80404, "referenceAllele": "C", "start": 80403 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453099.1:c.80179C>T" ], "proteinEffect": { "hgvs": "XP_024308867.1:p.Arg26727Ter", "hgvsWellDefined": "XP_024308867.1:p.Arg26727_Ile26956delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586486" }, { "coordinates": [ { "allele": "T", "end": 70059, "referenceAllele": "C", "start": 70058 } ], "gene": "http://reg.genome.network/gene/GN012403", "geneNCBI_id": 7273, "geneSymbol": "TTN", "hgvs": [ "XM_024453100.1:c.70033C>T" ], "proteinEffect": { "hgvs": "XP_024308868.1:p.Arg23345Ter", "hgvsWellDefined": "XP_024308868.1:p.Arg23345_Ile23574delinsAsnAlaSerValSerAspSerGlyLysTyrThrIleLysAlaLysAsnPheArgGlyGlnCysSerAlaThrAlaSerLeuMetValLeuProLeuValGluGluProSerArgGluValValLeuArgThrSerGlyAspThrSerLeuGlnGlySerPheSerSerGlnSerValGlnMetSerAlaSerLysGlnGluAlaSerPheSerSerPheSerSerSerSerAlaSerSerMetThrGluMetLysPheAlaSerMetSerAlaGlnSerMetSerSerMetGlnGluSerPheValGluMetSerSerSerSerPheMetGlyIleSerAsnMetThrGlnLeuGluSerSerThrSerLysMetLeuLysAlaGlyIleArgGlyIleProProLysIleGluAlaLeuProSerAspIleSerIleAspGluGlyLysValLeuThrValAlaCysAlaPheThrGlyGluProThrProGluValThrTrpSerCysGlyGlyArgLysIleHisSerGlnGluGlnGlyArgPheHisIleGluAsnThrAspAspLeuThrThrLeuIleIleMetAspValGlnLysGlnAspGlyGlyLeuTyrThrLeuSerLeuGlyAsnGluPheGlySerAspSerAlaThrValAsnIleHisIleArgSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586487" } ], "type": "nucleotide" }