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"XP_006722179.1:p.Arg368_Asp593delinsMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540469" }, { "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "XM_011525300.2:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_011523602.1:p.Arg339Ter", "hgvsWellDefined": "XP_011523602.1:p.Arg339_Asp564delinsMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547827" }, { "@id": "http://reg.genome.network/allele/PA2830032369", "coordinates": [ { "allele": "T", "end": 1490, "referenceAllele": "C", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_025233.7:c.1015C>T" ], "proteinEffect": { "hgvs": "NP_079509.5:p.Arg339Ter", "hgvsWellDefined": "NP_079509.5:p.Arg339_Asp564delinsMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670946", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393818.3:c.1015C>T" }, "RefSeq": { "hgvs": "NM_025233.7:c.1015C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377406.1:p.Arg339Ter" }, "RefSeq": { "hgvs": "NP_079509.5:p.Arg339Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825411248", "coordinates": [ { "allele": "T", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_001042529.3:c.1015C>T" ], "proteinEffect": { "hgvs": "NP_001035994.1:p.Arg339Ter", "hgvsWellDefined": "NP_001035994.1:p.Arg339_Asp564delinsMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676048" }, { "@id": "http://reg.genome.network/allele/PA2573178982", "coordinates": [ { "allele": "T", "end": 1230, "referenceAllele": "C", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN029932", "geneNCBI_id": 80347, "geneSymbol": "COASY", "hgvs": [ "NM_001042532.4:c.1102C>T" ], "proteinEffect": { "hgvs": "NP_001035997.2:p.Arg368Ter", "hgvsWellDefined": "NP_001035997.2:p.Arg368_Asp593delinsMetLeuGlyAsnLeuLeuArgProProTyrGluArgProGluLeuProThrCysLeuTyrValIleGlyLeuThrGlyIleSerGlySerGlyLysSerSerIleAlaGlnArgLeuLysGlyLeuGlyAlaPheValIleAspSerAspHisLeuGlyHisArgAlaTyrAlaProGlyGlyProAlaTyrGlnProValValGluAlaPheGlyThrAspIleLeuHisLysAspGlyIleIleAsnArgLysValLeuGlySerArgValPheGlyAsnLysLysGlnLeuLysIleLeuThrAspIleMetTrpProIleIleAlaLysLeuAlaArgGluGluMetAspArgAlaValAlaGluGlyLysArgValCysValIleAspAlaAlaValLeuLeuGluAlaGlyTrpGlnAsnLeuValHisGluValTrpThrAlaValIleProGluThrGluAlaValArgArgIleValGluArgAspGlyLeuSerGluAlaAlaAlaGlnSerArgLeuGlnSerGlnMetSerGlyGlnGlnLeuValGluGlnSerHisValValLeuSerThrLeuTrpGluProHisIleThrGlnArgGlnValGluLysAlaTrpAlaLeuLeuGlnLysArgIleProLysThrHisGlnAlaLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676049" } ], "type": "nucleotide" }