{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381185807", "communityStandardTitle": [ "NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1878151[alleleid]", "alleleId": 1878151, "preferredName": "NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137148", "RCV": [ "RCV003062405" ], "variationId": 2137148 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64575468C>T?assembly=hg19", "id": "chr11:g.64575468C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64807996C>T?assembly=hg38", "id": "chr11:g.64807996C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2136153753", "rs": 2136153753 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64807996, 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"ENSP00000366530.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913994" }, { "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.8:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.4:p.Trp183Ter", "hgvsWellDefined": "ENSP00000377899.4:p.Trp183_Leu225delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGluLeuAlaValProGluArgIleIleHisAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914005" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "G", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.7:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.3:p.Trp183Ter", "hgvsWellDefined": "ENSP00000377901.3:p.Trp183_Leu607delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914006" }, { "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "G", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.2:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.2:p.Trp183Ter", "hgvsWellDefined": "ENSP00000411218.2:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914026" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000424912.2:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000388016.2:p.Trp183Ter", "hgvsWellDefined": "ENSP00000388016.2:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914043" }, { "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.6:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000402752.2:p.Trp183Ter", "hgvsWellDefined": "ENSP00000402752.2:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914051" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.2:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000500905.2:p.Trp183Ter", "hgvsWellDefined": "ENSP00000500905.2:p.Trp183_Glu350delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914443" }, { 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"ENSP00000308975.6:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745769" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.9:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Trp183Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745987" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.6:c.564G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Trp188Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751900" }, { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.6:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.2:p.Trp183Ter", "hgvsWellDefined": "ENSP00000413944.2:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755813" }, { "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.7:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.3:p.Trp183Ter", "hgvsWellDefined": "ENSP00000394933.3:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756300", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.549G>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.549G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Trp183Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Trp183Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 589, "referenceAllele": "G", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.2:n.589G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757266" }, { "coordinates": [ { "allele": "A", "end": 616, "referenceAllele": "G", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.1:n.616G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773216" }, { "coordinates": [ { "allele": "A", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.1:n.209G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773225" }, { "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.1:c.275G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773263" }, { "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672304.1:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000500585.1:p.Trp183Ter", "hgvsWellDefined": "ENSP00000500585.1:p.Trp183_Leu652delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773338" }, { "coordinates": [ { "allele": "A", "end": 659, "referenceAllele": "G", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.10:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Trp183Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247384" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.8:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Trp183Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247139" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000337652.5:c.564G>A" ], "proteinEffect": { "hgvs": "ENSP00000337088.1:p.Trp188Ter", "hgvsWellDefined": "ENSP00000337088.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246730" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.5:c.564G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Trp188Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247164" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377316.6:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000366533.1:p.Trp183Ter", "hgvsWellDefined": "ENSP00000366533.1:p.Trp183_Leu555delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246623" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377321.5:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000366538.1:p.Trp183Ter", "hgvsWellDefined": "ENSP00000366538.1:p.Trp183_Leu575delinsSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247132" }, { "coordinates": [ { "allele": "A", "end": 1048, "referenceAllele": "G", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377326.7:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000366543.3:p.Trp183Ter", "hgvsWellDefined": "ENSP00000366543.3:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247410" }, { "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "G", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.6:c.564G>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.2:p.Trp188Ter", "hgvsWellDefined": "ENSP00000377899.2:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247296" }, { "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.5:c.564G>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.1:p.Trp188Ter", "hgvsWellDefined": "ENSP00000377901.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247366" }, { "coordinates": [ { "allele": "A", "end": 636, "referenceAllele": "G", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.1:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.1:p.Trp183Ter", "hgvsWellDefined": "ENSP00000411218.1:p.Trp183_Gln261del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247149" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.5:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.1:p.Trp183Ter", "hgvsWellDefined": "ENSP00000413944.1:p.Trp183Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247401" }, { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.5:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.1:p.Trp183Ter", "hgvsWellDefined": "ENSP00000394933.1:p.Trp183_Gly281del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247295" }, { "@id": "http://reg.genome.network/allele/PA306408", "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.3:c.564G>A", "LRG_509t1:c.564G>A" ], "proteinEffect": { "hgvs": "NP_000235.2:p.Trp188Ter", "hgvsWellDefined": "NP_000235.2:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006306" }, { "@id": "http://reg.genome.network/allele/PA306407", "coordinates": [ { "allele": "A", "end": 659, "referenceAllele": "G", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.2:c.549G>A", "LRG_509t2:c.549G>A" ], "proteinEffect": { "hgvs": "NP_570711.1:p.Trp183Ter", "hgvsWellDefined": "NP_570711.1:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040412" }, { "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.2:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570712.1:p.Trp188Ter", "hgvsWellDefined": "NP_570712.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040413" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "G", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.2:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570713.1:p.Trp188Ter", "hgvsWellDefined": "NP_570713.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040414" }, { "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "G", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.2:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570714.1:p.Trp188Ter", "hgvsWellDefined": "NP_570714.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040415" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.2:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570715.1:p.Trp188Ter", "hgvsWellDefined": "NP_570715.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040416" }, { "@id": "http://reg.genome.network/allele/PA916059415", "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.2:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570716.1:p.Trp188Ter", "hgvsWellDefined": "NP_570716.1:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040417" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.3:c.549G>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Trp183Ter", "hgvsWellDefined": "XP_005274058.1:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067795" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545040.1:c.549G>A" ], "proteinEffect": { "hgvs": "XP_011543342.1:p.Trp183Ter", "hgvsWellDefined": "XP_011543342.1:p.Trp183_Leu652delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111947" }, { "coordinates": [ { "allele": "A", "end": 770, "referenceAllele": "G", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.1:c.549G>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Trp183Ter", "hgvsWellDefined": "XP_011543343.1:p.Trp183_Leu652delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111948" }, { "coordinates": [ { "allele": "A", "end": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.1:c.549G>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Trp183Ter", "hgvsWellDefined": "XP_011543344.1:p.Trp183_Leu652delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111949" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.4:c.549G>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Trp183Ter", "hgvsWellDefined": "XP_005274058.1:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537539" }, { "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.2:c.549G>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Trp183Ter", "hgvsWellDefined": "XP_011543343.1:p.Trp183_Leu652delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555895" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.3:c.549G>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Trp183Ter", "hgvsWellDefined": "XP_011543344.1:p.Trp183_Leu652delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555896" }, { "coordinates": [ { "allele": "A", "end": 1056, "referenceAllele": "G", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017765.1:c.564G>A" ], "proteinEffect": { "hgvs": "XP_016873254.1:p.Trp188Ter", "hgvsWellDefined": "XP_016873254.1:p.Trp188_Leu657delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569877" }, { "coordinates": [ { "allele": "A", "end": 755, "referenceAllele": "G", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017766.1:c.564G>A" ], "proteinEffect": { "hgvs": "XP_016873255.1:p.Trp188Ter", "hgvsWellDefined": "XP_016873255.1:p.Trp188_Leu657delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569878" }, { "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017767.2:c.564G>A" ], "proteinEffect": { "hgvs": "XP_016873256.1:p.Trp188Ter", "hgvsWellDefined": "XP_016873256.1:p.Trp188_Leu657delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569879" }, { "coordinates": [ { "allele": "A", "end": 687, "referenceAllele": "G", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017768.1:c.564G>A" ], "proteinEffect": { "hgvs": "XP_016873257.1:p.Trp188Ter", "hgvsWellDefined": "XP_016873257.1:p.Trp188_Leu657delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569880" }, { "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017769.1:c.549G>A" ], "proteinEffect": { "hgvs": "XP_016873258.1:p.Trp183Ter", "hgvsWellDefined": "XP_016873258.1:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569881" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017770.2:c.549G>A" ], "proteinEffect": { "hgvs": "XP_016873259.1:p.Trp183Ter", "hgvsWellDefined": "XP_016873259.1:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569882" }, { "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.1:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Trp183Ter", "hgvsWellDefined": "NP_001357180.1:p.Trp183_Leu652delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "@id": "http://reg.genome.network/allele/PA2828396137", "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370259.2:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357188.2:p.Trp183Ter", "hgvsWellDefined": "NP_001357188.2:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.549G>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.549G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Trp183Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Trp183Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Trp183Ter", "hgvsWellDefined": "NP_001357189.1:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Trp183Ter", "hgvsWellDefined": "NP_001357190.1:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357191.1:p.Trp183Ter", "hgvsWellDefined": "NP_001357191.1:p.Trp183_Leu575delinsSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357192.1:p.Trp183Ter", "hgvsWellDefined": "NP_001357192.1:p.Trp183_Leu575delinsSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825100535", "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.564G>A" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Trp188Ter", "hgvsWellDefined": "NP_000235.3:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2828394629", "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Trp183Ter", "hgvsWellDefined": "NP_001357180.2:p.Trp183_Leu652delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828397787", "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Trp183Ter", "hgvsWellDefined": "NP_001357189.2:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828399440", "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Trp183Ter", "hgvsWellDefined": "NP_001357190.2:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "@id": "http://reg.genome.network/allele/PA2828401091", "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357191.2:p.Trp183Ter", "hgvsWellDefined": "NP_001357191.2:p.Trp183_Leu575delinsSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "@id": "http://reg.genome.network/allele/PA2828402653", "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.549G>A" ], "proteinEffect": { "hgvs": "NP_001357192.2:p.Trp183Ter", "hgvsWellDefined": "NP_001357192.2:p.Trp183_Leu575delinsSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830170789", "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "G", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.549G>A" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Trp183Ter", "hgvsWellDefined": "NP_570711.2:p.Trp183_Leu610delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830172449", "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "G", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Trp188Ter", "hgvsWellDefined": "NP_570712.2:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830174109", "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "G", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Trp188Ter", "hgvsWellDefined": "NP_570713.2:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830175768", "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Trp188Ter", "hgvsWellDefined": "NP_570714.2:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830177428", "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Trp188Ter", "hgvsWellDefined": "NP_570715.2:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2573297283", "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "G", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.564G>A" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Trp188Ter", "hgvsWellDefined": "NP_570716.2:p.Trp188_Leu615delinsValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }