{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA115459", "communityStandardTitle": [ "NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=131493", "active": true, "id": "COSM131493" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17303[alleleid]", "alleleId": 17303, "preferredName": "NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2264", "RCV": [ "RCV000002352", "RCV001826407" ], "variationId": 2264 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-88717415-G-A", "id": "16-88717415-G-A", "variant": "16:88717415 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88717415G>A?assembly=hg19", "id": "chr16:g.88717415G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88651007G>A?assembly=hg38", "id": "chr16:g.88651007G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894511", "rs": 104894511 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-88717415-G-A?dataset=gnomad_r2_1", "id": "16-88717415-G-A", "variant": "16:88717415 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-88651007-G-A?dataset=gnomad_r4", "id": "16-88651007-G-A", "variant": "16:88651007 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 88651007, "referenceAllele": "G", "start": 88651006 } ], "hgvs": [ "NC_000016.10:g.88651007G>A", "CM000678.2:g.88651007G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 88717415, "referenceAllele": "G", "start": 88717414 } ], "hgvs": [ "NC_000016.9:g.88717415G>A", "CM000678.1:g.88717415G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 87244916, "referenceAllele": "G", "start": 87244915 } ], "hgvs": [ "NC_000016.8:g.87244916G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 5043, "referenceAllele": "C", "start": 5042 } ], "hgvs": [ "NG_007291.1:g.5043C>T", "LRG_52:g.5043C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000539" }, { "coordinates": [ { "allele": "T", "end": 17147, "referenceAllele": "C", "start": 17146 } ], "hgvs": [ "NG_052674.1:g.17147C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617154" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 72, "referenceAllele": "C", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000565588.6:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000455537.2:p.Gln3Ter", "hgvsWellDefined": "ENSP00000455537.2:p.Gln3_Ala146del" }, "referenceSequence": "http://reg.genome.network/refseq/RS905950" }, { "coordinates": [ { "allele": "T", "end": 75, "referenceAllele": "C", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000696156.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000512446.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000512446.1:p.Gln3_Val167delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuAlaAlaValArgGlyGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIleGlyGlyThrIleLysGlnProProSerAsnProProProArgProProAlaGluAlaArgLysLysProSerGluGluGluAlaAlaValAlaAlaGlyGlyProProGlyGlyProGlnValAsnProIleProValThrAspGluValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907631" }, { "coordinates": [ { "allele": "T", "end": 68, "referenceAllele": "C", "start": 67 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000696157.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000512447.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000512447.1:p.Gln3_Arg129delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuIleLeuTrpAspArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907632" }, { "coordinates": [ { "allele": "T", "end": 68, "referenceAllele": "C", "start": 67 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000696158.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000512448.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000512448.1:p.Gln3_Met153delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuPheCysPheSerGluTrpAsnValSerValLeuGluSerGlyArgIleThrHisValGlnPheLeuPheLeuPheMetThrTyrMetMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907633" }, { "coordinates": [ { "allele": "T", "end": 75, "referenceAllele": "C", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000696159.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000512449.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000512449.1:p.Gln3_Ile175delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuLysCysLeuGlyThrLeuGlyGlyLeuProAlaSerValGlyGluTrpArgProProAspGlyAlaGlyProAlaThrLeuLeuGlyHisProSerCysTrpThrSerGlyLeuProProCysLeuProCysProTrpHisLeuGluArgArgIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907634" }, { "coordinates": [ { "allele": "T", "end": 75, "referenceAllele": "C", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000696160.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000512450.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000512450.1:p.Gln3_Val204delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuAsnGlyMetPheProPheTrpSerGlnAlaAlaValArgGlyGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIleGlyGlyThrIleLysGlnProProSerAsnProProProArgProProAlaGluAlaArgLysLysProSerGluGluGluAlaAlaValAlaAlaGlyGlyProProGlyGlyProGlnValAsnProIleProValThrAspGluValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907635" }, { "coordinates": [ { "allele": "T", "end": 72, "referenceAllele": "C", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000696161.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000512451.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000512451.1:p.Gln3_Gln254delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpProValProAlaArgCysValLeuTrpGluGluArgGlyLeuGlyAlaLeuGlyTrpSerAlaGlyGlnGlnArgSerProGluTrpGluArgProSerArgAlaValSerProSerSerLeuProGlnGlyThrGluValHisAspArgArgGlyGluAlaValArgAlaLeuTyrGlnGluLeuLeuCysSerGlyArgProAlaSerProAlaLeuGlyAlaArgArgLeuProAlaGlyHisHisProTrpAspArgLeuProGlyHisCysGluArgHisLeuProThrGlyGlyCysAlaTrpArgAlaValAspAlaHisArgAlaGlnAlaProGlyAlaAlaAlaAspArgArgHisHisGlnAlaAlaAlaGlnGlnProProAlaAlaAlaProGlyArgGlyProGlnGluAlaGlnArgGlyGlyGlyCysGlyGlyGlyGlyGlyThrProGlyArgSerProGlyGlnProHisProGlyAspArgArgGlyArgValThrSerProArgThrCysProProAlaArgCysThrHisLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907636" }, { "coordinates": [ { "allele": "T", "end": 75, "referenceAllele": "C", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000696162.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000512452.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000512452.1:p.Gln3_Phe176delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuMetGluSerArgAlaIleAlaGlnAlaGlyValGlnTrpArgAspLeuGlySerLeuGlnProSerProProGlyPheLysGlnPheSerCysLeuSerLeuProSerSerTrpAspTyrArgHisValProProCysLeuAlaAsnPheTrpTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907637" }, { "coordinates": [ { "allele": "T", "end": 77, "referenceAllele": "C", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000696163.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000512453.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000512453.1:p.Gln3_Val178delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuAlaAlaValArgGlyGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIleGlyGlyThrIleLysGlnProProSerAsnProProProArgProProAlaGluAlaArgLysLysProSerGluGluGluAlaAlaValAlaAlaGlyGlyProProGlyGlyProGlnValAsnProIleProValThrAspGluValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS907638" }, { "coordinates": [ { "allele": "T", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000261623.8:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000261623.3:p.Gln3Ter", "hgvsWellDefined": "ENSP00000261623.3:p.Gln3_Val195delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuAlaAlaValArgGlyGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIleGlyGlyThrIleLysGlnProProSerAsnProProProArgProProAlaGluAlaArgLysLysProSerGluGluGluAlaAlaValAlaAlaGlyGlyProProGlyGlyProGlnValAsnProIleProValThrAspGluValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742174", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261623.8:c.7C>T" }, "RefSeq": { "hgvs": "NM_000101.4:c.7C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261623.3:p.Gln3Ter" }, "RefSeq": { "hgvs": "NP_000092.2:p.Gln3Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 146, "referenceAllele": "C", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000261623.7:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000261623.3:p.Gln3Ter", "hgvsWellDefined": "ENSP00000261623.3:p.Gln3_Val195delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuAlaAlaValArgGlyGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIleGlyGlyThrIleLysGlnProProSerAsnProProProArgProProAlaGluAlaArgLysLysProSerGluGluGluAlaAlaValAlaAlaGlyGlyProProGlyGlyProGlnValAsnProIleProValThrAspGluValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250796" }, { "coordinates": [ { "allele": "T", "end": 48, "referenceAllele": "C", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000561972.1:n.48C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376478" }, { "coordinates": [ { "allele": "T", "end": 25, "referenceAllele": "C", "start": 24 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000562209.1:n.25C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376638" }, { "coordinates": [ { "allele": "T", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000566534.5:n.29C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS379506" }, { "coordinates": [ { "allele": "T", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000567174.5:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000454951.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000454951.1:p.Gln3_Ser210delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuSerGlnValProProAlaArgArgGlyAsnCysProProLeuAlaValArgLeuLeuValCysValArgGlyLysGlyAlaAlaLeuSerValTyrAlaPheArgValTrpLysTrpSerSerValSerSerLeuThrAspLeuProProAlaGluLeuSerPheArgThrProSerCysCysGlnValLeuIleTrpAlaValAlaLeuPheSerGlyGlyHisProHisProProArgLeuProAlaAlaThrHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379940" }, { "coordinates": [ { "allele": "T", "end": 9, "referenceAllele": "C", "start": 8 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000568278.1:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000455506.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000455506.1:p.Gln3Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS380670" }, { "coordinates": [ { "allele": "T", "end": 24, "referenceAllele": "C", "start": 23 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "ENST00000569359.5:c.7C>T" ], "proteinEffect": { "hgvs": "ENSP00000456079.1:p.Gln3Ter", "hgvsWellDefined": "ENSP00000456079.1:p.Gln3_Leu128delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuValSerGlyAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381425" }, { "@id": "http://reg.genome.network/allele/PA115461", "coordinates": [ { "allele": "T", "end": 78, "referenceAllele": "C", "start": 77 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "NM_000101.3:c.7C>T" ], "proteinEffect": { "hgvs": "NP_000092.2:p.Gln3Ter", "hgvsWellDefined": "NP_000092.2:p.Gln3_Val195delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuAlaAlaValArgGlyGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIleGlyGlyThrIleLysGlnProProSerAsnProProProArgProProAlaGluAlaArgLysLysProSerGluGluGluAlaAlaValAlaAlaGlyGlyProProGlyGlyProGlnValAsnProIleProValThrAspGluValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006165" }, { "coordinates": [ { "allele": "T", "end": 79, "referenceAllele": "C", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "XM_011522905.1:c.7C>T" ], "proteinEffect": { "hgvs": "XP_011521207.1:p.Gln3Ter", "hgvsWellDefined": "XP_011521207.1:p.Gln3_Ser210delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuSerGlnValProProAlaArgArgGlyAsnCysProProLeuAlaValArgLeuLeuValCysValArgGlyLysGlyAlaAlaLeuSerValTyrAlaPheArgValTrpLysTrpSerSerValSerSerLeuThrAspLeuProProAlaGluLeuSerPheArgThrProSerCysCysGlnValLeuIleTrpAlaValAlaLeuPheSerGlyGlyHisProHisProProArgLeuProAlaAlaThrHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090047" }, { "coordinates": [ { "allele": "T", "end": 73, "referenceAllele": "C", "start": 72 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "XM_011522905.3:c.7C>T" ], "proteinEffect": { "hgvs": "XP_011521207.1:p.Gln3Ter", "hgvsWellDefined": "XP_011521207.1:p.Gln3_Ser210delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuSerGlnValProProAlaArgArgGlyAsnCysProProLeuAlaValArgLeuLeuValCysValArgGlyLysGlyAlaAlaLeuSerValTyrAlaPheArgValTrpLysTrpSerSerValSerSerLeuThrAspLeuProProAlaGluLeuSerPheArgThrProSerCysCysGlnValLeuIleTrpAlaValAlaLeuPheSerGlyGlyHisProHisProProArgLeuProAlaAlaThrHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546799" }, { "@id": "http://reg.genome.network/allele/PA115461", "coordinates": [ { "allele": "T", "end": 47, "referenceAllele": "C", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN002577", "geneNCBI_id": 1535, "geneSymbol": "CYBA", "hgvs": [ "NM_000101.4:c.7C>T" ], "proteinEffect": { "hgvs": "NP_000092.2:p.Gln3Ter", "hgvsWellDefined": "NP_000092.2:p.Gln3_Val195delinsIleGluTrpAlaMetTrpAlaAsnGluGlnAlaLeuAlaSerGlyLeuIleLeuIleThrGlyGlyIleValAlaThrAlaGlyArgPheThrGlnTrpTyrPheGlyAlaTyrSerIleValAlaGlyValPheValCysLeuLeuGluTyrProArgGlyLysArgLysLysGlySerThrMetGluArgTrpGlyGlnLysTyrMetThrAlaValValLysLeuPheGlyProPheThrArgAsnTyrTyrValArgAlaValLeuHisLeuLeuLeuSerValProAlaGlyPheLeuLeuAlaThrIleLeuGlyThrAlaCysLeuAlaIleAlaSerGlyIleTyrLeuLeuAlaAlaValArgGlyGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIleGlyGlyThrIleLysGlnProProSerAsnProProProArgProProAlaGluAlaArgLysLysProSerGluGluGluAlaAlaValAlaAlaGlyGlyProProGlyGlyProGlnValAsnProIleProValThrAspGluValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662316", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261623.8:c.7C>T" }, "RefSeq": { "hgvs": "NM_000101.4:c.7C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261623.3:p.Gln3Ter" }, "RefSeq": { "hgvs": "NP_000092.2:p.Gln3Ter" } } } } ], "type": "nucleotide" }