{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354737829", "communityStandardTitle": [ "NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=542907[alleleid]", "alleleId": 542907, "preferredName": "NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/556077", "RCV": [ "RCV000672023" ], "variationId": 556077 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.135969231T>G?assembly=hg19", "id": "chr3:g.135969231T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.136250389T>G?assembly=hg38", "id": "chr3:g.136250389T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1292452485", "rs": 1292452485 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 136250389, "referenceAllele": "T", "start": 136250388 } ], "hgvs": [ "NC_000003.12:g.136250389T>G", "CM000665.2:g.136250389T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 135969231, "referenceAllele": "T", "start": 135969230 } ], "hgvs": [ "NC_000003.11:g.135969231T>G", "CM000665.1:g.135969231T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 137451921, "referenceAllele": "T", "start": 137451920 } ], "hgvs": [ "NC_000003.10:g.137451921T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 5065, "referenceAllele": "T", "start": 5064 } ], "hgvs": [ "NG_008939.1:g.5065T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001317" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 50, "referenceAllele": "T", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.9:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Leu5Ter", "hgvsWellDefined": "ENSP00000251654.4:p.Leu5_Leu539delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741494", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.14T>G" }, "RefSeq": { "hgvs": "NM_000532.5:c.14T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Leu5Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Leu5Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 84, "referenceAllele": "T", "start": 83 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.8:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Leu5Ter", "hgvsWellDefined": "ENSP00000251654.4:p.Leu5_Leu539delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249758" }, { "coordinates": [ { "allele": "G", "end": 35, "referenceAllele": "T", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462637.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000420391.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000420391.1:p.Leu5_Leu516delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS306841" }, { "coordinates": [ { "allele": "G", "end": 21, "referenceAllele": "T", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465423.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000419263.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000419263.1:p.Leu5_Gly192del" }, "referenceSequence": "http://reg.genome.network/refseq/RS309030" }, { "coordinates": [ { "allele": "G", "end": 35, "referenceAllele": "T", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000466072.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000420158.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000420158.1:p.Leu5_Leu559delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS309530" }, { "coordinates": [ { "allele": "G", "end": 35, "referenceAllele": "T", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000468777.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000419129.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000419129.1:p.Leu5_Leu570delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnIleArgAlaSerAlaMetSerProArgLeuValSerAspSerTrpThrGlnAlaIleHisLeuProTrpProProLysValLeuGlyLeuGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS311613" }, { "coordinates": [ { "allele": "G", "end": 31, "referenceAllele": "T", "start": 30 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000469217.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000419027.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000419027.1:p.Leu5_Leu559delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnGlnIleIleGlyTrpAlaGlnTrpLeuProLeuValIleSerAlaLeuTrpGluAlaGluAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS311954" }, { "coordinates": [ { "allele": "G", "end": 32, "referenceAllele": "T", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000471595.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000417549.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000417549.1:p.Leu5_Trp550delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValArgValGlnGluValPheHisGlnValValGlnSerGlyHisArgAspGlyArgGlyAlaValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS313756" }, { "coordinates": [ { "allele": "G", "end": 15, "referenceAllele": "T", "start": 14 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000478469.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000420759.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000420759.1:p.Leu5_His303delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerProThrPheCysLeuTrpLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319072" }, { "coordinates": [ { "allele": "G", "end": 35, "referenceAllele": "T", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000482086.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000417253.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000417253.1:p.Leu5_Leu423delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS321866" }, { "coordinates": [ { "allele": "G", "end": 35, "referenceAllele": "T", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000483687.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000420639.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000420639.1:p.Leu5_Leu520delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323097" }, { "coordinates": [ { "allele": "G", "end": 35, "referenceAllele": "T", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000484181.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000417937.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000417937.1:p.Leu5_Leu405delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyLeuTrpArgCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323492" }, { "coordinates": [ { "allele": "G", "end": 35, "referenceAllele": "T", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000490504.5:c.14T>G" ], "proteinEffect": { "hgvs": "ENSP00000418307.1:p.Leu5Ter", "hgvsWellDefined": "ENSP00000418307.1:p.Leu5_Leu482delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS328307" }, { "@id": "http://reg.genome.network/allele/PA658827621", "coordinates": [ { "allele": "G", "end": 65, "referenceAllele": "T", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.4:c.14T>G" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Leu5Ter", "hgvsWellDefined": "NP_000523.2:p.Leu5_Leu539delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006590" }, { "@id": "http://reg.genome.network/allele/PA915994126", "coordinates": [ { "allele": "G", "end": 65, "referenceAllele": "T", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.1:c.14T>G" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Leu5Ter", "hgvsWellDefined": "NP_001171485.1:p.Leu5_Leu559delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnGlnIleIleGlyTrpAlaGlnTrpLeuProLeuValIleSerAlaLeuTrpGluAlaGluAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015808" }, { "coordinates": [ { "allele": "G", "end": 65, "referenceAllele": "T", "start": 64 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.1:c.14T>G" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Leu5Ter", "hgvsWellDefined": "XP_011511175.1:p.Leu5_Pro387delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080128" }, { "coordinates": [ { "allele": "G", "end": 50, "referenceAllele": "T", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.2:c.14T>G" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Leu5Ter", "hgvsWellDefined": "XP_011511175.1:p.Leu5_Pro387delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542709" }, { "@id": "http://reg.genome.network/allele/PA658827621", "coordinates": [ { "allele": "G", "end": 50, "referenceAllele": "T", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.5:c.14T>G" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Leu5Ter", "hgvsWellDefined": "NP_000523.2:p.Leu5_Leu539delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662476", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.14T>G" }, "RefSeq": { "hgvs": "NM_000532.5:c.14T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Leu5Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Leu5Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915994126", "coordinates": [ { "allele": "G", "end": 50, "referenceAllele": "T", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.2:c.14T>G" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Leu5Ter", "hgvsWellDefined": "NP_001171485.1:p.Leu5_Leu559delinsArgValAlaAlaValGlyAlaArgLeuSerValLeuAlaSerGlyLeuArgAlaAlaValArgSerLeuCysSerGlnAlaThrSerValAsnGluArgIleGluAsnLysArgArgThrAlaLeuLeuGlyGlyGlyGlnArgArgIleAspAlaGlnHisLysArgGlyLysLeuThrAlaArgGluArgIleSerLeuLeuLeuAspProGlySerPheValGluSerAspMetPheValGluHisArgCysAlaAspPheGlyMetAlaAlaAspLysAsnLysPheProGlyAspSerValValThrGlyArgGlyArgIleAsnGlyArgLeuValTyrValPheSerGlnGlnIleIleGlyTrpAlaGlnTrpLeuProLeuValIleSerAlaLeuTrpGluAlaGluAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713549" } ], "type": "nucleotide" }