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"NM_001370259.2:c.1198C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Gln400Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Gln400Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Gln400Ter", "hgvsWellDefined": 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"NP_001357190.1:p.Gln400Ter", "hgvsWellDefined": "NP_001357190.1:p.Gln400_Leu610delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ 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"geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.1093C>T" ], "proteinEffect": { "hgvs": "NP_001357192.1:p.Gln365Ter", "hgvsWellDefined": "NP_001357192.1:p.Gln365_Leu575delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825101094", "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Gln405Ter", "hgvsWellDefined": "NP_000235.3:p.Gln405_Leu615delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2573212279", "coordinates": [ { "allele": "T", "end": 1373, "referenceAllele": "C", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.1324C>T" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Gln442Ter", "hgvsWellDefined": "NP_001357180.2:p.Gln442_Leu652delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828398346", "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Gln400Ter", "hgvsWellDefined": "NP_001357189.2:p.Gln400_Leu610delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828399999", "coordinates": [ { "allele": "T", "end": 1505, "referenceAllele": "C", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Gln400Ter", "hgvsWellDefined": "NP_001357190.2:p.Gln400_Leu610delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "@id": "http://reg.genome.network/allele/PA2828401559", "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.1093C>T" ], "proteinEffect": { "hgvs": "NP_001357191.2:p.Gln365Ter", "hgvsWellDefined": "NP_001357191.2:p.Gln365_Leu575delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "@id": "http://reg.genome.network/allele/PA2828403121", "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.1093C>T" ], "proteinEffect": { "hgvs": "NP_001357192.2:p.Gln365Ter", "hgvsWellDefined": "NP_001357192.2:p.Gln365_Leu575delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830171348", "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.1198C>T" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Gln400Ter", "hgvsWellDefined": "NP_570711.2:p.Gln400_Leu610delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830173007", "coordinates": [ { "allele": "T", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Gln405Ter", "hgvsWellDefined": "NP_570712.2:p.Gln405_Leu615delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830174668", "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Gln405Ter", "hgvsWellDefined": "NP_570713.2:p.Gln405_Leu615delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830176327", "coordinates": [ { "allele": "T", "end": 1520, "referenceAllele": "C", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Gln405Ter", "hgvsWellDefined": "NP_570714.2:p.Gln405_Leu615delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830177987", "coordinates": [ { "allele": "T", "end": 1717, "referenceAllele": "C", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Gln405Ter", "hgvsWellDefined": "NP_570715.2:p.Gln405_Leu615delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2830178941", "coordinates": [ { "allele": "T", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Gln405Ter", "hgvsWellDefined": "NP_570716.2:p.Gln405_Leu615delinsGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }