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"ENSP00000394933.3:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756300", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.936C>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.936C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Tyr312Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Tyr312Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.2:n.976C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757266" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "C", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.1:n.1213C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773216" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "C", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.1:c.662C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773263" }, { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672304.1:c.936C>A" ], "proteinEffect": { "hgvs": "ENSP00000500585.1:p.Tyr312Ter", "hgvsWellDefined": "ENSP00000500585.1:p.Tyr313_Leu652delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773338" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.10:c.936C>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Tyr312Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247384" }, { "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "C", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.8:c.936C>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Tyr312Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247139" }, { "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000337652.5:c.951C>A" ], "proteinEffect": { "hgvs": "ENSP00000337088.1:p.Tyr317Ter", "hgvsWellDefined": "ENSP00000337088.1:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246730" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "C", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.5:c.951C>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Tyr317Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247164" }, { "coordinates": [ { "allele": "A", "end": 1312, "referenceAllele": "C", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377316.6:c.936C>A" ], "proteinEffect": { "hgvs": "ENSP00000366533.1:p.Tyr312Ter", "hgvsWellDefined": "ENSP00000366533.1:p.Tyr313_Leu555delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246623" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377321.5:c.831C>A" ], "proteinEffect": { "hgvs": "ENSP00000366538.1:p.Tyr277Ter", "hgvsWellDefined": "ENSP00000366538.1:p.Tyr278_Leu575delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247132" }, { "coordinates": [ { "allele": "A", "end": 1435, "referenceAllele": "C", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377326.7:c.936C>A" ], "proteinEffect": { "hgvs": "ENSP00000366543.3:p.Tyr312Ter", "hgvsWellDefined": "ENSP00000366543.3:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247410" }, { "coordinates": [ { "allele": "A", "end": 1448, "referenceAllele": "C", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.6:c.951C>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.2:p.Tyr317Ter", "hgvsWellDefined": "ENSP00000377899.2:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247296" }, { "coordinates": [ { "allele": "A", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.5:c.951C>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.1:p.Tyr317Ter", "hgvsWellDefined": "ENSP00000377901.1:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247366" }, { "coordinates": [ { "allele": "A", "end": 1004, "referenceAllele": "C", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.5:c.936C>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.1:p.Tyr312Ter", "hgvsWellDefined": "ENSP00000413944.1:p.Tyr312Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247401" }, { "coordinates": [ { "allele": "A", "end": 24, "referenceAllele": "C", "start": 23 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.1:n.24C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319131" }, { "@id": "http://reg.genome.network/allele/PA223870", "coordinates": [ { "allele": "A", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.3:c.951C>A", "LRG_509t1:c.951C>A" ], "proteinEffect": { "hgvs": "NP_000235.2:p.Tyr317Ter", "hgvsWellDefined": "NP_000235.2:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006306" }, { "@id": "http://reg.genome.network/allele/PA223867", "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.2:c.936C>A", "LRG_509t2:c.936C>A" ], "proteinEffect": { "hgvs": "NP_570711.1:p.Tyr312Ter", "hgvsWellDefined": "NP_570711.1:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040412" }, { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.2:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570712.1:p.Tyr317Ter", "hgvsWellDefined": "NP_570712.1:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040413" }, { "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.2:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570713.1:p.Tyr317Ter", "hgvsWellDefined": "NP_570713.1:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040414" }, { "coordinates": [ { "allele": "A", "end": 1448, "referenceAllele": "C", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.2:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570714.1:p.Tyr317Ter", "hgvsWellDefined": "NP_570714.1:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040415" }, { "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.2:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570715.1:p.Tyr317Ter", "hgvsWellDefined": "NP_570715.1:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040416" }, { "@id": "http://reg.genome.network/allele/PA916059776", "coordinates": [ { "allele": "A", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.2:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570716.1:p.Tyr317Ter", "hgvsWellDefined": "NP_570716.1:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040417" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "C", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.3:c.936C>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Tyr312Ter", "hgvsWellDefined": "XP_005274058.1:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067795" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "C", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545040.1:c.936C>A" ], "proteinEffect": { "hgvs": "XP_011543342.1:p.Tyr312Ter", "hgvsWellDefined": "XP_011543342.1:p.Tyr313_Leu652delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111947" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.1:c.936C>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Tyr312Ter", "hgvsWellDefined": "XP_011543343.1:p.Tyr313_Leu652delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111948" }, { "coordinates": [ { "allele": "A", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.1:c.936C>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Tyr312Ter", "hgvsWellDefined": "XP_011543344.1:p.Tyr313_Leu652delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111949" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "C", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.4:c.936C>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Tyr312Ter", "hgvsWellDefined": "XP_005274058.1:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537539" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.2:c.936C>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Tyr312Ter", "hgvsWellDefined": "XP_011543343.1:p.Tyr313_Leu652delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555895" }, { "coordinates": [ { "allele": "A", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.3:c.936C>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Tyr312Ter", "hgvsWellDefined": "XP_011543344.1:p.Tyr313_Leu652delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555896" }, { "coordinates": [ { "allele": "A", "end": 1443, "referenceAllele": "C", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017765.1:c.951C>A" ], "proteinEffect": { "hgvs": "XP_016873254.1:p.Tyr317Ter", "hgvsWellDefined": "XP_016873254.1:p.Tyr318_Leu657delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569877" }, { "coordinates": [ { "allele": "A", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017766.1:c.951C>A" ], "proteinEffect": { "hgvs": "XP_016873255.1:p.Tyr317Ter", "hgvsWellDefined": "XP_016873255.1:p.Tyr318_Leu657delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569878" }, { "coordinates": [ { "allele": "A", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017767.2:c.951C>A" ], "proteinEffect": { "hgvs": "XP_016873256.1:p.Tyr317Ter", "hgvsWellDefined": "XP_016873256.1:p.Tyr318_Leu657delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569879" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017768.1:c.951C>A" ], "proteinEffect": { "hgvs": "XP_016873257.1:p.Tyr317Ter", "hgvsWellDefined": "XP_016873257.1:p.Tyr318_Leu657delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569880" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017769.1:c.936C>A" ], "proteinEffect": { "hgvs": "XP_016873258.1:p.Tyr312Ter", "hgvsWellDefined": "XP_016873258.1:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569881" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017770.2:c.936C>A" ], "proteinEffect": { "hgvs": "XP_016873259.1:p.Tyr312Ter", "hgvsWellDefined": "XP_016873259.1:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569882" }, { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.1:c.936C>A" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Tyr312Ter", "hgvsWellDefined": "NP_001357180.1:p.Tyr313_Leu652delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "@id": "http://reg.genome.network/allele/PA2828396458", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370259.2:c.936C>A" ], "proteinEffect": { "hgvs": "NP_001357188.2:p.Tyr312Ter", "hgvsWellDefined": "NP_001357188.2:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.936C>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.936C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Tyr312Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Tyr312Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.936C>A" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Tyr312Ter", "hgvsWellDefined": "NP_001357189.1:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.936C>A" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Tyr312Ter", "hgvsWellDefined": "NP_001357190.1:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "A", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.831C>A" ], "proteinEffect": { "hgvs": "NP_001357191.1:p.Tyr277Ter", "hgvsWellDefined": "NP_001357191.1:p.Tyr278_Leu575delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.831C>A" ], "proteinEffect": { "hgvs": "NP_001357192.1:p.Tyr277Ter", "hgvsWellDefined": "NP_001357192.1:p.Tyr278_Leu575delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825100856", "coordinates": [ { "allele": "A", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.951C>A" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Tyr317Ter", "hgvsWellDefined": "NP_000235.3:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2828394953", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.936C>A" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Tyr312Ter", "hgvsWellDefined": "NP_001357180.2:p.Tyr313_Leu652delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828398111", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.936C>A" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Tyr312Ter", "hgvsWellDefined": "NP_001357189.2:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828399761", "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.936C>A" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Tyr312Ter", "hgvsWellDefined": "NP_001357190.2:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "@id": "http://reg.genome.network/allele/PA2828401324", "coordinates": [ { "allele": "A", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.831C>A" ], "proteinEffect": { "hgvs": "NP_001357191.2:p.Tyr277Ter", "hgvsWellDefined": "NP_001357191.2:p.Tyr278_Leu575delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "@id": "http://reg.genome.network/allele/PA2828402885", "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.831C>A" ], "proteinEffect": { "hgvs": "NP_001357192.2:p.Tyr277Ter", "hgvsWellDefined": "NP_001357192.2:p.Tyr278_Leu575delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830171110", "coordinates": [ { "allele": "A", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.936C>A" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Tyr312Ter", "hgvsWellDefined": "NP_570711.2:p.Tyr313_Leu610delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830172771", "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Tyr317Ter", "hgvsWellDefined": "NP_570712.2:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830174432", "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Tyr317Ter", "hgvsWellDefined": "NP_570713.2:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830176090", "coordinates": [ { "allele": "A", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Tyr317Ter", "hgvsWellDefined": "NP_570714.2:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830177752", "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Tyr317Ter", "hgvsWellDefined": "NP_570715.2:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2573297778", "coordinates": [ { "allele": "A", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.951C>A" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Tyr317Ter", "hgvsWellDefined": "NP_570716.2:p.Tyr318_Leu615delinsArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }