{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354112707", "communityStandardTitle": [ "NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431664[alleleid]", "alleleId": 431664, "preferredName": "NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438040", "RCV": [ "RCV000504928" ], "variationId": 438040 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.121547320A>C?assembly=hg19", "id": "chr3:g.121547320A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.121828473A>C?assembly=hg38", "id": "chr3:g.121828473A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553722736", "rs": 1553722736 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-121828473-A-C?dataset=gnomad_r4", "id": "3-121828473-A-C", "variant": "3:121828473 A / C" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 121828473, "referenceAllele": "A", "start": 121828472 } ], "hgvs": [ "NC_000003.12:g.121828473A>C", "CM000665.2:g.121828473A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 121547320, "referenceAllele": "A", "start": 121547319 } ], "hgvs": [ "NC_000003.11:g.121547320A>C", "CM000665.1:g.121547320A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 123030010, "referenceAllele": "A", "start": 123030009 } ], "hgvs": [ "NC_000003.10:g.123030010A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 11607, "referenceAllele": "T", "start": 11606 } ], "hgvs": [ "NG_015887.1:g.11607T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002905" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 456, "referenceAllele": "T", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "ENST00000310864.11:c.260T>G" ], "proteinEffect": { "hgvs": "ENSP00000311505.6:p.Leu87Ter", "hgvsWellDefined": "ENSP00000311505.6:p.Leu87_Pro598delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnSerGlyAspLeuLeuArgIleGlyArgLysAlaLeuTyrSerIleLeuAspGluValIlePheLysLeuPheSerThrProSerProValIleArgSerThrAlaThrLysLeuLeuLeuLeuMetAlaGluSerHisGlnGluIleLeuIleLeuLeuArgGlnSerThrCysTyrLysGlyLeuArgArgLeuLeuSerLysGlnGluThrGlyThrGluPheSerGlnGluLeuArgGlnLeuValGlyLeuLeuSerProMetValTyrGlnGluValGluGluGlnLysLeuHisGlnAlaAlaCysLeuIleGlnAlaTyrTrpLysGlyPheGlnThrArgLysArgLeuLysLysLeuProSerAlaValIleAlaLeuGlnArgSerPheArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745668", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310864.11:c.260T>G" }, "RefSeq": { "hgvs": "NM_001023570.4:c.260T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000311505.6:p.Leu87Ter" }, "RefSeq": { "hgvs": "NP_001018864.2:p.Leu87Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 475, "referenceAllele": "T", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "ENST00000310864.10:c.260T>G" ], "proteinEffect": { "hgvs": "ENSP00000311505.6:p.Leu87Ter", "hgvsWellDefined": "ENSP00000311505.6:p.Leu87_Pro598delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnSerGlyAspLeuLeuArgIleGlyArgLysAlaLeuTyrSerIleLeuAspGluValIlePheLysLeuPheSerThrProSerProValIleArgSerThrAlaThrLysLeuLeuLeuLeuMetAlaGluSerHisGlnGluIleLeuIleLeuLeuArgGlnSerThrCysTyrLysGlyLeuArgArgLeuLeuSerLysGlnGluThrGlyThrGluPheSerGlnGluLeuArgGlnLeuValGlyLeuLeuSerProMetValTyrGlnGluValGluGluGlnLysLeuHisGlnAlaAlaCysLeuIleGlnAlaTyrTrpLysGlyPheGlnThrArgLysArgLeuLysLysLeuProSerAlaValIleAlaLeuGlnArgSerPheArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256430" }, { "coordinates": [ { "allele": "G", "end": 430, "referenceAllele": "T", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "ENST00000349820.10:c.260T>G" ], "proteinEffect": { "hgvs": "ENSP00000323756.7:p.Leu87Ter", "hgvsWellDefined": "ENSP00000323756.7:p.Leu87_Pro465delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262627" }, { "coordinates": [ { "allele": "G", "end": 475, "referenceAllele": "T", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "ENST00000393650.7:c.260T>G" ], "proteinEffect": { "hgvs": "ENSP00000377261.3:p.Leu87Ter", "hgvsWellDefined": "ENSP00000377261.3:p.Leu87_Lys303delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnSerGlyAspLeuLeuArgIleGlyArgLysAlaLeuTyrSerIleLeuAspGluValIlePheLysLeuPheSerThrProSerProValIleArgSerThrAlaThrLysLeuLeuLeuLeuMetAlaGluSerHisGlnGluIleLeuIleLeuLeuArgGlnSerThrCysTyrLysGlyLeuArgArgLeuLeuSerLysGlnGluThrGlyThrGluPheSerGlnGluLeuArgGlnLeuValGlyLeuLeuSerProMetValTyrGlnGluValGluGluGlnIleGlnThrIleLysAspValAlaGlyAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275742" }, { "coordinates": [ { "allele": "G", "end": 269, "endIntronDirection": "+", "endIntronOffset": 388, "referenceAllele": "T", "start": 269, "startIntronDirection": "+", "startIntronOffset": 387 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "ENST00000460108.5:c.-290+388T>G" ], "proteinEffect": { "hgvs": "ENSP00000419168.1:n.-290+388T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS304921" }, { "coordinates": [ { "allele": "G", "end": 599, "referenceAllele": "T", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "ENST00000462442.1:c.260T>G" ], "proteinEffect": { "hgvs": "ENSP00000419376.1:p.Leu87Ter", "hgvsWellDefined": "ENSP00000419376.1:p.Leu87Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS306700" }, { "coordinates": [ { "allele": "G", "end": 252, "endIntronDirection": "+", "endIntronOffset": 388, "referenceAllele": "T", "start": 252, "startIntronDirection": "+", "startIntronOffset": 387 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "ENST00000498104.1:c.-196+388T>G" ], "proteinEffect": { "hgvs": "ENSP00000417832.1:n.-196+388T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS334184" }, { "@id": "http://reg.genome.network/allele/PA645509870", "coordinates": [ { "allele": "G", "end": 475, "referenceAllele": "T", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "NM_001023570.2:c.260T>G" ], "proteinEffect": { "hgvs": "NP_001018864.2:p.Leu87Ter", "hgvsWellDefined": "NP_001018864.2:p.Leu87_Pro598delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnSerGlyAspLeuLeuArgIleGlyArgLysAlaLeuTyrSerIleLeuAspGluValIlePheLysLeuPheSerThrProSerProValIleArgSerThrAlaThrLysLeuLeuLeuLeuMetAlaGluSerHisGlnGluIleLeuIleLeuLeuArgGlnSerThrCysTyrLysGlyLeuArgArgLeuLeuSerLysGlnGluThrGlyThrGluPheSerGlnGluLeuArgGlnLeuValGlyLeuLeuSerProMetValTyrGlnGluValGluGluGlnLysLeuHisGlnAlaAlaCysLeuIleGlnAlaTyrTrpLysGlyPheGlnThrArgLysArgLeuLysLysLeuProSerAlaValIleAlaLeuGlnArgSerPheArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008730" }, { "@id": "http://reg.genome.network/allele/PA2825331561", "coordinates": [ { "allele": "G", "end": 475, "referenceAllele": "T", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "NM_001023571.2:c.260T>G" ], "proteinEffect": { "hgvs": "NP_001018865.2:p.Leu87Ter", "hgvsWellDefined": "NP_001018865.2:p.Leu87_Pro465delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008731" }, { "coordinates": [ { "allele": "G", "end": 388, "referenceAllele": "T", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "XM_005247911.2:c.260T>G" ], "proteinEffect": { "hgvs": "XP_005247968.1:p.Leu87Ter", "hgvsWellDefined": "XP_005247968.1:p.Leu87_Val474delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnSerGlyAspLeuLeuArgIleGlyArgLysAlaLeuTyrSerIleLeuAspGluValIlePheLysLeuPheSerThrProSerProValIleArgSerThrAlaThrLysLeuLeuLeuLeuMetAlaGluSerHisGlnGluIleLeuIleLeuLeuArgGlnSerThrCysTyrLysGlyLeuArgArgLeuLeuSerLysGlnGluThrGlyThrGluPheSerGlnGluLeuArgGlnLeuValGlyLeuLeuSerProMetValTyrGlnGluValGluGluGlnLysLeuHisGlnAlaAlaCysLeuIleGlnAlaTyrTrpLysGlyPheGlnThrArgLysArgLeuLysLysLeuProSerAlaValIleAlaLeuGlnArgSerPheArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuArgHisGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058231" }, { "coordinates": [ { "allele": "G", "end": 228, "endIntronDirection": "+", "endIntronOffset": 388, "referenceAllele": "T", "start": 228, "startIntronDirection": "+", "startIntronOffset": 387 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "XM_005247912.1:c.-290+388T>G" ], "proteinEffect": { "hgvs": "XP_005247969.1:n.-290+388T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS058232" }, { "coordinates": [ { "allele": "G", "end": 388, "referenceAllele": "T", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "XM_005247913.1:c.260T>G" ], "proteinEffect": { "hgvs": "XP_005247970.1:p.Leu87Ter", "hgvsWellDefined": "XP_005247970.1:p.Leu87_Ala378delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnSerGlyAspLeuLeuArgIleGlyArgLysAlaLeuTyrSerIleLeuAspGluValIlePheLysLeuPheSerThrProSerProValIleArgSerThrAlaThrLysLeuLeuLeuLeuMetAlaGluSerHisGlnGluIleLeuIleLeuLeuArgGlnSerThrCysTyrLysGlyLeuArgArgLeuLeuSerLysGlnGluThrGlyThrGluPheSerGlnGluLeuArgGlnLeuValGlyLeuLeuSerProMetValTyrGlnGluValGluGluGlnLysLeuHisGlnAlaAlaCysLeuIleGlnAlaTyrTrpLysGlyPheGlnThrArgLysArgLeuLysLysLeuProSerAlaValIleAlaLeuGlnArgSerPheArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058233" }, { 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"NP_001018864.2:p.Leu87_Pro598delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnSerGlyAspLeuLeuArgIleGlyArgLysAlaLeuTyrSerIleLeuAspGluValIlePheLysLeuPheSerThrProSerProValIleArgSerThrAlaThrLysLeuLeuLeuLeuMetAlaGluSerHisGlnGluIleLeuIleLeuLeuArgGlnSerThrCysTyrLysGlyLeuArgArgLeuLeuSerLysGlnGluThrGlyThrGluPheSerGlnGluLeuArgGlnLeuValGlyLeuLeuSerProMetValTyrGlnGluValGluGluGlnLysLeuHisGlnAlaAlaCysLeuIleGlnAlaTyrTrpLysGlyPheGlnThrArgLysArgLeuLysLysLeuProSerAlaValIleAlaLeuGlnArgSerPheArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310864.11:c.260T>G" }, "RefSeq": { "hgvs": "NM_001023570.4:c.260T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000311505.6:p.Leu87Ter" }, "RefSeq": { "hgvs": "NP_001018864.2:p.Leu87Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825331561", "coordinates": [ { "allele": "G", "end": 456, "referenceAllele": "T", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "NM_001023571.4:c.260T>G" ], "proteinEffect": { "hgvs": "NP_001018865.2:p.Leu87Ter", "hgvsWellDefined": "NP_001018865.2:p.Leu87_Pro465delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711427" }, { "@id": "http://reg.genome.network/allele/PA916024196", "coordinates": [ { "allele": "G", "end": 455, "referenceAllele": "T", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "NM_001319107.2:c.260T>G" ], "proteinEffect": { "hgvs": "NP_001306036.1:p.Leu87Ter", "hgvsWellDefined": "NP_001306036.1:p.Leu87_Pro598delinsSerHisCysCysValGlyLeuGluProGlyGluAspAlaGluGluPheTyrAsnGluLeuLeuProSerAlaAlaGluAsnPheLeuValLeuGlyArgGlnLeuGlnThrCysPheIleAsnAlaAlaLysAlaGluGluLysAspGluLeuLeuHisPhePheGlnIleValThrAspSerLeuPheTrpLeuLeuGlyGlyHisValGluLeuIleGlnAsnValLeuGlnSerAspHisPheLeuHisLeuLeuGlnAlaAspAsnValGlnIleGlySerAlaValMetMetMetLeuGlnAsnIleLeuGlnIleAsnSerGlyAspLeuLeuArgIleGlyArgLysAlaLeuTyrSerIleLeuAspGluValIlePheLysLeuPheSerThrProSerProValIleArgSerThrAlaThrLysLeuLeuLeuLeuMetAlaGluSerHisGlnGluIleLeuIleLeuLeuArgGlnSerThrCysTyrLysGlyLeuArgArgLeuLeuSerLysGlnGluThrGlyThrGluPheSerGlnGluLeuArgGlnLeuValGlyLeuLeuSerProMetValTyrGlnGluValGluGluGlnLysLeuHisGlnAlaAlaCysLeuIleGlnAlaTyrTrpLysGlyPheGlnThrArgLysArgLeuLysLysLeuProSerAlaValIleAlaLeuGlnArgSerPheArgSerLysArgSerLysMetLeuLeuGluIleAsnArgGlnLysGluGluGluAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717665" }, { "coordinates": [ { "allele": "G", "end": 455, "referenceAllele": "T", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN028949", "geneNCBI_id": 9657, "geneSymbol": "IQCB1", "hgvs": [ "NR_134968.2:n.455T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS730896" } ], "type": "nucleotide" }