{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401087979", "communityStandardTitle": [ "NM_199242.3(UNC13D):c.2293G>T (p.Glu765Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=569747[alleleid]", "alleleId": 569747, "preferredName": "NM_199242.3(UNC13D):c.2293G>T (p.Glu765Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/580834", "RCV": [ "RCV000704492" ], "variationId": 580834 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73830411C>A?assembly=hg19", "id": "chr17:g.73830411C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75834330C>A?assembly=hg38", "id": "chr17:g.75834330C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/763117746", "rs": 763117746 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-73830411-C-A?dataset=gnomad_r2_1", "id": "17-73830411-C-A", "variant": "17:73830411 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-75834330-C-A?dataset=gnomad_r4", "id": "17-75834330-C-A", "variant": "17:75834330 C / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75834330, "referenceAllele": "C", "start": 75834329 } ], "hgvs": [ "NC_000017.11:g.75834330C>A", "CM000679.2:g.75834330C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73830411, "referenceAllele": "C", "start": 73830410 } ], "hgvs": [ "NC_000017.10:g.73830411C>A", "CM000679.1:g.73830411C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 71342006, "referenceAllele": "C", "start": 71342005 } ], "hgvs": [ "NC_000017.9:g.71342006C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 15388, "referenceAllele": "G", "start": 15387 } ], "hgvs": [ "NG_007266.1:g.15388G>T", "LRG_122:g.15388G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000514" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "G", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000699510.1:c.1159G>T" ], "proteinEffect": { "hgvs": "ENSP00000514405.1:p.Glu387Ter", "hgvsWellDefined": "ENSP00000514405.1:p.Glu387_Pro712delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910398" }, { "coordinates": [ { "allele": "T", "end": 2360, "referenceAllele": "G", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.9:c.2293G>T" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Glu765Ter", "hgvsWellDefined": "ENSP00000207549.3:p.Glu765_Pro1090delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.2293G>T" }, "RefSeq": { "hgvs": "NM_199242.3:c.2293G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Glu765Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Glu765Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2673, "referenceAllele": "G", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.8:c.2293G>T" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Glu765Ter", "hgvsWellDefined": "ENSP00000207549.3:p.Glu765_Pro1090delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247840" }, { "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "G", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000412096.6:c.2293G>T" ], "proteinEffect": { "hgvs": "ENSP00000388093.1:p.Glu765Ter", "hgvsWellDefined": "ENSP00000388093.1:p.Glu765_Tyr1142delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnGlyIleGlyProSerValSerTrpProTrpProIleCysLeuLeuAlaPheLeuPheGlnProLeuGlyTrpGlyProGlySerLeuGlyProGlyLeuGlnAlaGlnSerLeuLeuGluLysGlyGluGlyThrLeuProLysMetArgLeuGlnLeuProTrpGlyGluGlyGlyGlyHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282458" }, { "coordinates": [ { "allele": "T", "end": 2563, "referenceAllele": "G", "start": 2562 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000591563.5:n.2563G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392953" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000591616.1:n.654G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392995" }, { "@id": "http://reg.genome.network/allele/PA891861895", "coordinates": [ { "allele": "T", "end": 2673, "referenceAllele": "G", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.2:c.2293G>T", "LRG_122t1:c.2293G>T" ], "proteinEffect": { 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"NP_954712.1:p.Glu765_Pro1090delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044881" }, { "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "G", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.1:c.2293G>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Glu765Ter", "hgvsWellDefined": "XP_011522806.1:p.Glu765_Pro1113delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091628" }, { "coordinates": [ { "allele": "T", "end": 2306, "referenceAllele": "G", "start": 2305 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524505.1:c.2293G>T" ], "proteinEffect": { "hgvs": "XP_011522807.1:p.Glu765Ter", "hgvsWellDefined": "XP_011522807.1:p.Glu765_Pro1113delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091629" }, { "coordinates": [ { "allele": "T", "end": 2303, "referenceAllele": "G", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524506.1:c.2290G>T" ], "proteinEffect": { "hgvs": "XP_011522808.1:p.Glu764Ter", "hgvsWellDefined": "XP_011522808.1:p.Glu764_Pro1112delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091630" }, { "coordinates": [ { "allele": "T", "end": 2756, "referenceAllele": "G", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.1:c.1684G>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Glu562Ter", "hgvsWellDefined": "XP_011522809.1:p.Glu562_Pro910delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091631" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "G", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524508.1:c.1684G>T" ], "proteinEffect": { "hgvs": "XP_011522810.1:p.Glu562Ter", "hgvsWellDefined": "XP_011522810.1:p.Glu562_Pro910delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091632" }, { "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "G", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.2:c.2293G>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Glu765Ter", "hgvsWellDefined": "XP_011522806.1:p.Glu765_Pro1113delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547490" }, { "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "G", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.2:c.1684G>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Glu562Ter", "hgvsWellDefined": "XP_011522809.1:p.Glu562_Pro910delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547491" }, { "coordinates": [ { "allele": "T", "end": 1778, "referenceAllele": "G", "start": 1777 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_024450640.1:c.1684G>T" ], "proteinEffect": { "hgvs": "XP_024306408.1:p.Glu562Ter", "hgvsWellDefined": "XP_024306408.1:p.Glu562_Pro910delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584174" }, { "@id": "http://reg.genome.network/allele/PA891861895", "coordinates": [ { "allele": "T", "end": 2360, "referenceAllele": "G", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.3:c.2293G>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Glu765Ter", "hgvsWellDefined": "NP_954712.1:p.Glu765_Pro1090delinsGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729979", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.2293G>T" }, "RefSeq": { "hgvs": "NM_199242.3:c.2293G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Glu765Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Glu765Ter" } } } } ], "type": "nucleotide" }