{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6153192", "communityStandardTitle": [ "NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=230227[alleleid]", "alleleId": 230227, "preferredName": "NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228355", "RCV": [ "RCV000221711", "RCV000482426", "RCV001059408", "RCV003335233" ], "variationId": 228355 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-68673577-C-T", "id": "11-68673577-C-T", "variant": "11:68673577 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68673577C>T?assembly=hg19", "id": "chr11:g.68673577C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68906109C>T?assembly=hg38", "id": "chr11:g.68906109C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200089714", "rs": 200089714 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68673577-C-T?dataset=gnomad_r2_1", "id": "11-68673577-C-T", "variant": "11:68673577 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68906109-C-T?dataset=gnomad_r3", "id": "11-68906109-C-T", "variant": "11:68906109 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68906109-C-T?dataset=gnomad_r4", "id": "11-68906109-C-T", "variant": "11:68906109 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68906109, "referenceAllele": "C", "start": 68906108 } ], "hgvs": [ "NC_000011.10:g.68906109C>T", "CM000673.2:g.68906109C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68673577, "referenceAllele": "C", "start": 68673576 } ], "hgvs": [ "NC_000011.9:g.68673577C>T", "CM000673.1:g.68673577C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68430153, "referenceAllele": "C", "start": 68430152 } ], "hgvs": [ "NC_000011.8:g.68430153C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 7259, "referenceAllele": "C", "start": 7258 } ], "hgvs": [ "NG_007976.1:g.7259C>T", "LRG_250:g.7259C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000744" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.8:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000255078.4:p.Arg43Ter", "hgvsWellDefined": "ENSP00000255078.4:p.Arg43_Thr993delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.127C>T" }, "RefSeq": { "hgvs": "NM_002180.3:c.127C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg43Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg43Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539224.2:c.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759589" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674583.1:c.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774529" }, { "coordinates": [ { "allele": "T", "end": 41, "referenceAllele": "C", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674597.1:c.41C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774542" }, { "coordinates": [ { "allele": "T", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674729.1:n.70C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774652" }, { "coordinates": [ { "allele": "T", "end": 147, "referenceAllele": "C", "start": 146 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000674955.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000502463.1:p.Arg43Ter", "hgvsWellDefined": "ENSP00000502463.1:p.Arg43_Gly464delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysSerTyrGluLeuGlyThrPheValValPheArgGlyProGluGluAspValGlnGluIleLeuSerSerArgIleSerSerGlnGlyArgGlyGlnProArgSerTrpArgGlyCysAlaGlyArgThrValThrGlnProAspGlyThrProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774837" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675142.1:n.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775008" }, { "coordinates": [ { "allele": "T", "end": 41, "referenceAllele": "C", "start": 40 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675469.1:c.41C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775288" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675615.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000502413.1:p.Arg43Ter", "hgvsWellDefined": "ENSP00000502413.1:p.Arg43_Arg875delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysAspProTrpLeuArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775408" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675674.1:n.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775461" }, { "coordinates": [ { "allele": "T", "end": 72, "referenceAllele": "C", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675800.1:n.72C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775571" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000675873.1:c.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775637" }, { "coordinates": [ { "allele": "T", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676173.1:n.167C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775893" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000676228.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000502375.1:p.Arg43Ter", "hgvsWellDefined": "ENSP00000502375.1:p.Arg43_Gly192delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysProAlaAspIleLeuGlnHisLeuProGlyHisLeuProGluArgSerGlyPheIleCysAlaValSerGluArgThrCysHisHisProTrpThrSerTrpHisTrpGluAsnHisAspCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775942" }, { "coordinates": [ { "allele": "T", "end": 238, "referenceAllele": "C", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000255078.7:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000255078.3:p.Arg43Ter", "hgvsWellDefined": "ENSP00000255078.3:p.Arg43_Thr993delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250071" }, { "coordinates": [ { "allele": "T", "end": 183, "referenceAllele": "C", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000539224.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000440465.1:p.Arg43Ter", "hgvsWellDefined": "ENSP00000440465.1:p.Arg43_Gly192delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysProAlaAspIleLeuGlnHisLeuProGlyHisLeuProGluArgSerGlyPheIleCysAlaValSerGluArgThrCysHisHisProTrpThrSerTrpHisTrpGluAsnHisAspCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361739" }, { "coordinates": [ { "allele": "T", "end": 148, "endIntronDirection": "-", "endIntronOffset": 2035, "referenceAllele": "C", "start": 148, "startIntronDirection": "-", "startIntronOffset": 2036 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000544541.1:c.87-2036C>T" ], "proteinEffect": { "hgvs": "ENSP00000443343.1:n.87-2036C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS364627" }, { "coordinates": [ { "allele": "T", "end": 154, "referenceAllele": "C", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "ENST00000545146.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000456366.1:p.Arg43Ter", "hgvsWellDefined": "ENSP00000456366.1:p.Arg43_Thr91delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyValCysValLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364954" }, { "@id": "http://reg.genome.network/allele/PA645483155", "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.2:c.127C>T", "LRG_250t1:c.127C>T" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg43Ter", "hgvsWellDefined": "NP_002171.2:p.Arg43_Thr993delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027500" }, { "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273974.2:c.-889C>T" ], "proteinEffect": { "hgvs": "XP_005274031.1:n.-889C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS067782" }, { "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.1:c.127C>T" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Arg43Ter", "hgvsWellDefined": "XP_005274033.1:p.Arg43_Pro540delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisAsnLeuGlnSerValAspThrSerLeuAspGlyGlyHisTrpAlaGluThrGlnGlnThrMetValLeuProCysGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysProGlyGlyAspThrGlyValLeuMetArgTrpProGlyProGlyCysProGlyGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysLeuGlyGlyGluSerAlaAlaArgProProSerProProLeuThrSerProHisThrThrGlnHisSerLeuLeuGlnProHisArgProArgTrpProLeuCysLeuAspHisSerCysLeuGlyValAlaGlyValProSerLeuGlnMetAsnProLeuHisGlyIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067784" }, { "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_247198.1:n.229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117297" }, { "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.1:n.229C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143242" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_005273976.2:c.127C>T" ], "proteinEffect": { "hgvs": "XP_005274033.1:p.Arg43Ter", "hgvsWellDefined": "XP_005274033.1:p.Arg43_Pro540delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisAsnLeuGlnSerValAspThrSerLeuAspGlyGlyHisTrpAlaGluThrGlnGlnThrMetValLeuProCysGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysProGlyGlyAspThrGlyValLeuMetArgTrpProGlyProGlyCysProGlyGlyAspThrGlyAlaLeuMetGlnTrpProGlyProGlyCysLeuGlyGlyGluSerAlaAlaArgProProSerProProLeuThrSerProHisThrThrGlnHisSerLeuLeuGlnProHisArgProArgTrpProLeuCysLeuAspHisSerCysLeuGlyValAlaGlyValProSerLeuGlnMetAsnProLeuHisGlyIleProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537534" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "C", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017669.2:c.-787C>T" ], "proteinEffect": { "hgvs": "XP_016873158.1:n.-787C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS569798" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XM_017017671.2:c.127C>T" ], "proteinEffect": { "hgvs": "XP_016873160.1:p.Arg43Ter", "hgvsWellDefined": "XP_016873160.1:p.Arg43_Pro546delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569800" }, { "coordinates": [ { "allele": "T", "end": 225, "referenceAllele": "C", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "XR_949903.3:n.225C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS615424" }, { "@id": "http://reg.genome.network/allele/PA645483155", "coordinates": [ { "allele": "T", "end": 189, "referenceAllele": "C", "start": 188 } ], "gene": "http://reg.genome.network/gene/GN005542", "geneNCBI_id": 3508, "geneSymbol": "IGHMBP2", "hgvs": [ "NM_002180.3:c.127C>T" ], "proteinEffect": { "hgvs": "NP_002171.2:p.Arg43Ter", "hgvsWellDefined": "NP_002171.2:p.Arg43_Thr993delinsGlyValCysLeuLeuLysLeuGlnValSerSerGlnArgThrGlyLeuTyrGlyArgLeuLeuValThrPheGluProArgArgTyrGlySerAlaAlaAlaLeuProSerAsnSerPheThrSerGlyAspIleValGlyLeuTyrAspAlaAlaAsnGluGlySerGlnLeuAlaThrGlyIleLeuThrArgValThrGlnLysSerValThrValAlaPheAspGluSerHisAspPheGlnLeuSerLeuAspArgGluAsnSerTyrArgLeuLeuLysLeuAlaAsnAspValThrTyrArgArgLeuLysLysAlaLeuIleAlaLeuLysLysTyrHisSerGlyProAlaSerSerLeuIleGluValLeuPheGlyArgSerAlaProSerProAlaSerGluIleHisProLeuThrPhePheAsnThrCysLeuAspThrSerGlnLysGluAlaValLeuPheAlaLeuSerGlnLysGluLeuAlaIleIleHisGlyProProGlyThrGlyLysThrThrThrValValGluIleIleLeuGlnAlaValLysGlnGlyLeuLysValLeuCysCysAlaProSerAsnIleAlaValAspAsnLeuValGluArgLeuAlaLeuCysLysGlnArgIleLeuArgLeuGlyHisProAlaArgLeuLeuGluSerIleGlnGlnHisSerLeuAspAlaValLeuAlaArgSerAspSerAlaGlnIleValAlaAspIleArgLysAspIleAspGlnValPheValLysAsnLysLysThrGlnAspLysArgGluLysSerAsnPheArgAsnGluIleLysLeuLeuArgLysGluLeuLysGluArgGluGluAlaAlaMetLeuGluSerLeuThrSerAlaAsnValValLeuAlaThrAsnThrGlyAlaSerAlaAspGlyProLeuLysLeuLeuProGluSerTyrPheAspValValValIleAspGluCysAlaGlnAlaLeuGluAlaSerCysTrpIleProLeuLeuLysAlaArgLysCysIleLeuAlaGlyAspHisLysGlnLeuProProThrThrValSerHisLysAlaAlaLeuAlaGlyLeuSerLeuSerLeuMetGluArgLeuAlaGluGluTyrGlyAlaArgValValArgThrLeuThrValGlnTyrArgMetHisGlnAlaIleMetArgTrpAlaSerAspThrMetTyrLeuGlyGlnLeuThrAlaHisSerSerValAlaArgHisLeuLeuArgAspLeuProGlyValAlaAlaThrGluGluThrGlyValProLeuLeuLeuValAspThrAlaGlyCysGlyLeuPheGluLeuGluGluGluAspGluGlnSerLysGlyAsnProGlyGluValArgLeuValSerLeuHisIleGlnAlaLeuValAspAlaGlyValProAlaArgAspIleAlaValValSerProTyrAsnLeuGlnValAspLeuLeuArgGlnSerLeuValHisArgHisProGluLeuGluIleLysSerValAspGlyPheGlnGlyArgGluLysGluAlaValIleLeuSerPheValArgSerAsnArgLysGlyGluValGlyPheLeuAlaGluAspArgArgIleAsnValAlaValThrArgAlaArgArgHisValAlaValIleCysAspSerArgThrValAsnAsnHisAlaPheLeuLysThrLeuValGluTyrPheThrGlnHisGlyGluValArgThrAlaPheGluTyrLeuAspAspIleValProGluAsnTyrSerHisGluAsnSerGlnGlySerSerHisAlaAlaThrLysProGlnGlyProAlaThrSerThrArgThrGlySerGlnArgGlnGluGlyGlyGlnGluAlaAlaAlaProAlaArgGlnGlyArgLysLysProAlaGlyLysSerLeuAlaSerGluAlaProSerGlnProSerLeuAsnGlyGlySerProGluGlyValGluSerGlnAspGlyValAspHisPheArgAlaMetIleValGluPheMetAlaSerLysLysMetGlnLeuGluPheProProSerLeuAsnSerHisAspArgLeuArgValHisGlnIleAlaGluGluHisGlyLeuArgHisAspSerSerGlyGluGlyLysArgArgPheIleThrValSerLysArgAlaProArgProArgAlaAlaLeuGlyProProAlaGlyThrGlyGlyProAlaProLeuGlnProValProProThrProAlaGlnThrGluGlnProProArgGluGlnArgGlyProAspGlnProAspLeuArgThrLeuHisLeuGluArgLeuGlnArgValArgSerAlaGlnGlyGlnProAlaSerLysGluGlnGlnAlaSerGlyGlnGlnLysLeuProGluLysLysLysLysLysAlaLysGlyHisProAlaThrAspLeuProThrGluGluAspPheGluAlaLeuValSerAlaAlaValLysAlaAspAsnThrCysGlyPheAlaLysCysThrAlaGlyValThrThrLeuGlyGlnPheCysGlnLeuCysSerArgArgTyrCysLeuSerHisHisLeuProGluIleHisGlyCysGlyGluArgAlaArgAlaHisAlaArgGlnArgIleSerArgGluGlyValLeuTyrAlaGlySerGlyThrLysAsnGlySerLeuAspProAlaLysArgAlaGlnLeuGlnArgArgLeuAspLysLysLeuSerGluLeuSerAsnGlnArgThrSerArgArgLysGluArgGlyThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000255078.8:c.127C>T" }, "RefSeq": { "hgvs": "NM_002180.3:c.127C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000255078.4:p.Arg43Ter" }, "RefSeq": { "hgvs": "NP_002171.2:p.Arg43Ter" } } } } ], "type": "nucleotide" }