{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401113941", "communityStandardTitle": [ "NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=646716[alleleid]", "alleleId": 646716, "preferredName": "NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/664792", "RCV": [ "RCV000822959", "RCV002298791" ], "variationId": 664792 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73838563G>A?assembly=hg19", "id": "chr17:g.73838563G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75842482G>A?assembly=hg38", "id": "chr17:g.75842482G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1157287613", "rs": 1157287613 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-73838563-G-A?dataset=gnomad_r2_1", "id": "17-73838563-G-A", "variant": "17:73838563 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75842482-G-A?dataset=gnomad_r4", "id": "17-75842482-G-A", "variant": "17:75842482 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75842482, "referenceAllele": "G", "start": 75842481 } ], "hgvs": [ "NC_000017.11:g.75842482G>A", "CM000679.2:g.75842482G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73838563, "referenceAllele": "G", "start": 73838562 } ], "hgvs": [ "NC_000017.10:g.73838563G>A", "CM000679.1:g.73838563G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 71350158, "referenceAllele": "G", "start": 71350157 } ], "hgvs": [ "NC_000017.9:g.71350158G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 7236, "referenceAllele": "C", "start": 7235 } ], "hgvs": [ "NG_007266.1:g.7236C>T", "LRG_122:g.7236C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000514" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000585574.6:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000514389.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000514389.1:p.Gln155_Val183delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuAlaLeuAsnHisAlaLeuPheSerIleGlnGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906057" }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587504.6:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000514388.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000514388.1:p.Gln155_Arg320delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnValLeuThrLeuThrGlyTrpAlaSerProProValArgThrCysAlaAlaGluArgThrSerGlyThrProTrpAsnProAlaLeuArgProThrGlnThrGluAlaSerAlaThrSerSerSerAsnSerSerIleSerGlyGluProLeuArgProAlaAlaArgSerArgAlaThrProCysThrSerThrSerCysSerSerLeuCysProThrArgSerProSerThrArgArgGluAlaProProGlyThrGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906071" }, { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "C", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000592386.6:c.502C>T" ], "proteinEffect": { "hgvs": "ENSP00000466826.2:p.Gln168Ter", "hgvsWellDefined": "ENSP00000466826.2:p.Gln168_Glu311del" }, "referenceSequence": "http://reg.genome.network/refseq/RS906114" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000699512.1:c.355C>T" ], "proteinEffect": { "hgvs": "ENSP00000514407.1:p.Gln119Ter", "hgvsWellDefined": "ENSP00000514407.1:p.Gln119_Val137del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910400" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000699513.1:c.520C>T" ], "proteinEffect": { "hgvs": "ENSP00000514408.1:p.Gln174Ter", "hgvsWellDefined": "ENSP00000514408.1:p.Gln174_Leu190del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910401" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.9:c.520C>T" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Gln174Ter", "hgvsWellDefined": "ENSP00000207549.3:p.Gln174_Pro1090delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.520C>T" }, "RefSeq": { "hgvs": "NM_199242.3:c.520C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Gln174Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Gln174Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.8:c.520C>T" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Gln174Ter", "hgvsWellDefined": "ENSP00000207549.3:p.Gln174_Pro1090delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247840" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000412096.6:c.520C>T" ], "proteinEffect": { "hgvs": "ENSP00000388093.1:p.Gln174Ter", "hgvsWellDefined": "ENSP00000388093.1:p.Gln174_Tyr1142delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnGlyIleGlyProSerValSerTrpProTrpProIleCysLeuLeuAlaPheLeuPheGlnProLeuGlyTrpGlyProGlySerLeuGlyProGlyLeuGlnAlaGlnSerLeuLeuGluLysGlyGluGlyThrLeuProLysMetArgLeuGlnLeuProTrpGlyGluGlyGlyGlyHisTyrTer" 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201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587504.5:n.485C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390131" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000590762.5:c.463C>T" ], "proteinEffect": { "hgvs": "ENSP00000467653.1:p.Gln155Ter", "hgvsWellDefined": "ENSP00000467653.1:p.Gln155_Arg267del" }, "referenceSequence": "http://reg.genome.network/refseq/RS392417" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000591563.5:n.601C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392953" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000592386.5:c.499C>T" ], "proteinEffect": { "hgvs": "ENSP00000466826.1:p.Gln167Ter", "hgvsWellDefined": "ENSP00000466826.1:p.Gln167_Glu310del" }, "referenceSequence": "http://reg.genome.network/refseq/RS393530" }, { "@id": "http://reg.genome.network/allele/PA916062194", "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.2:c.520C>T", "LRG_122t1:c.520C>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Gln174Ter", "hgvsWellDefined": "NP_954712.1:p.Gln174_Pro1090delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044881" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.1:c.520C>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Gln174Ter", "hgvsWellDefined": "XP_011522806.1:p.Gln174_Pro1113delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091628" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524505.1:c.520C>T" ], "proteinEffect": { "hgvs": "XP_011522807.1:p.Gln174Ter", "hgvsWellDefined": "XP_011522807.1:p.Gln174_Pro1113delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091629" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524506.1:c.520C>T" ], "proteinEffect": { "hgvs": "XP_011522808.1:p.Gln174Ter", "hgvsWellDefined": "XP_011522808.1:p.Gln174_Pro1112delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091630" }, { "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.1:c.-90C>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:n.-90C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS091631" }, { "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.2:c.520C>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Gln174Ter", "hgvsWellDefined": "XP_011522806.1:p.Gln174_Pro1113delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547490" }, { "coordinates": [ { "allele": "T", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.2:c.-90C>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:n.-90C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS547491" }, { "@id": "http://reg.genome.network/allele/PA916062194", "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.3:c.520C>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Gln174Ter", "hgvsWellDefined": "NP_954712.1:p.Gln174_Pro1090delinsValIleThrGlnThrLeuAsnProValTrpAspGluThrPheIleLeuGluPheGluAspIleThrAsnAlaSerPheHisLeuAspMetTrpAspLeuAspThrValGluSerValArgGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729979", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.520C>T" }, "RefSeq": { "hgvs": "NM_199242.3:c.520C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Gln174Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Gln174Ter" } } } } ], "type": "nucleotide" }