{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406622517", "communityStandardTitle": [ "NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2852577[alleleid]", "alleleId": 2852577, "preferredName": "NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2691554", "RCV": [ "RCV003493344" ], "variationId": 2691554 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.48201942C>A?assembly=hg19", "id": "chr19:g.48201942C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47698685C>A?assembly=hg38", "id": "chr19:g.47698685C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1973387849", "rs": 1973387849 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-47698685-C-A?dataset=gnomad_r4", "id": "19-47698685-C-A", "variant": "19:47698685 C / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 47698685, "referenceAllele": "C", "start": 47698684 } ], "hgvs": [ "NC_000019.10:g.47698685C>A", "CM000681.2:g.47698685C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 48201942, "referenceAllele": "C", "start": 48201941 } ], "hgvs": [ "NC_000019.9:g.48201942C>A", "CM000681.1:g.48201942C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 52893754, "referenceAllele": "C", "start": 52893753 } ], "hgvs": [ "NC_000019.8:g.52893754C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3442, "referenceAllele": "C", "start": 3441 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "ENST00000594866.3:c.3300C>A" ], "proteinEffect": { "hgvs": "ENSP00000469738.2:p.Tyr1100Ter", "hgvsWellDefined": "ENSP00000469738.2:p.Tyr1100_Arg1560delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826305", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000594866.3:c.3300C>A" }, "RefSeq": { "hgvs": "NM_001394372.1:c.3300C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000469738.2:p.Tyr1100Ter" }, "RefSeq": { "hgvs": "NP_001381301.1:p.Tyr1100Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3509, "referenceAllele": "C", "start": 3508 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "ENST00000614245.2:c.2574C>A" ], "proteinEffect": { "hgvs": "ENSP00000480219.2:p.Tyr858Ter", "hgvsWellDefined": "ENSP00000480219.2:p.Tyr858_Arg1318delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761957" }, { "coordinates": [ { "allele": "A", "end": 3494, "referenceAllele": "C", "start": 3493 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "ENST00000396720.7:c.3300C>A" ], "proteinEffect": { "hgvs": "ENSP00000379946.2:p.Tyr1100Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277413" }, { "coordinates": [ { "allele": "A", "end": 3507, "referenceAllele": "C", "start": 3506 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "ENST00000614245.1:c.3144C>A" ], "proteinEffect": { "hgvs": "ENSP00000480219.1:p.Tyr1048Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS402099" }, { "@id": "http://reg.genome.network/allele/PA2741955476", "coordinates": [ { "allele": "A", "end": 3494, "referenceAllele": "C", "start": 3493 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "NM_015711.3:c.3300C>A" ], "proteinEffect": { "hgvs": "NP_056526.3:p.Tyr1100Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS034212" }, { "coordinates": [ { "allele": "A", "end": 3518, "referenceAllele": "C", "start": 3517 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "XM_005258833.3:c.3300C>A" ], "proteinEffect": { "hgvs": "XP_005258890.1:p.Tyr1100Ter", "hgvsWellDefined": "XP_005258890.1:p.Tyr1100_Arg1560delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062196" }, { "coordinates": [ { "allele": "A", "end": 2438, "referenceAllele": "C", "start": 2437 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "XM_006723180.2:c.2220C>A" ], "proteinEffect": { "hgvs": "XP_006723243.1:p.Tyr740Ter", "hgvsWellDefined": "XP_006723243.1:p.Tyr740_Arg1200delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074909" }, { "coordinates": [ { "allele": "A", "end": 3823, "referenceAllele": "C", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "XM_011526882.1:c.3162C>A" ], "proteinEffect": { "hgvs": "XP_011525184.1:p.Tyr1054Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093981" }, { "coordinates": [ { "allele": "A", "end": 3341, "referenceAllele": "C", "start": 3340 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "XM_011526883.1:c.3123C>A" ], "proteinEffect": { "hgvs": "XP_011525185.1:p.Tyr1041Ter", "hgvsWellDefined": "XP_011525185.1:p.Tyr1041_Arg1501delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093982" }, { "coordinates": [ { "allele": "A", "end": 3537, "referenceAllele": "C", "start": 3536 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "XM_005258833.4:c.3300C>A" ], "proteinEffect": { "hgvs": "XP_005258890.1:p.Tyr1100Ter", "hgvsWellDefined": "XP_005258890.1:p.Tyr1100_Arg1560delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534896" }, { "coordinates": [ { "allele": "A", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "XM_006723180.3:c.2220C>A" ], "proteinEffect": { "hgvs": "XP_006723243.1:p.Tyr740Ter", "hgvsWellDefined": "XP_006723243.1:p.Tyr740_Arg1200delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540703" }, { "coordinates": [ { "allele": "A", "end": 4504, "referenceAllele": "C", "start": 4503 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "XM_011526882.2:c.3162C>A" ], "proteinEffect": { "hgvs": "XP_011525184.1:p.Tyr1054Ter", "hgvsWellDefined": "XP_011525184.1:p.Tyr1054_Arg1514delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548450" }, { "coordinates": [ { "allele": "A", "end": 3360, "referenceAllele": "C", "start": 3359 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "XM_011526883.2:c.3123C>A" ], "proteinEffect": { "hgvs": "XP_011525185.1:p.Tyr1041Ter", "hgvsWellDefined": "XP_011525185.1:p.Tyr1041_Arg1501delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548451" }, { "@id": "http://reg.genome.network/allele/PA2829222945", "coordinates": [ { "allele": "A", "end": 3442, "referenceAllele": "C", "start": 3441 } ], "gene": "http://reg.genome.network/gene/GN004332", "geneNCBI_id": 29998, "geneSymbol": "BICRA", "hgvs": [ "NM_001394372.1:c.3300C>A" ], "proteinEffect": { "hgvs": "NP_001381301.1:p.Tyr1100Ter", "hgvsWellDefined": "NP_001381301.1:p.Tyr1100_Arg1560delinsLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS782067", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000594866.3:c.3300C>A" }, "RefSeq": { "hgvs": "NM_001394372.1:c.3300C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000469738.2:p.Tyr1100Ter" }, "RefSeq": { "hgvs": "NP_001381301.1:p.Tyr1100Ter" } } } } ], "type": "nucleotide" }