{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA009518", "communityStandardTitle": [ "NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197549[alleleid]", "alleleId": 197549, "preferredName": "NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201010", "RCV": [ "RCV000632134", "RCV003317132" ], "variationId": 201010 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64575423C>T?assembly=hg19", "id": "chr11:g.64575423C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64807951C>T?assembly=hg38", "id": "chr11:g.64807951C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894257", "rs": 104894257 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64807951, "referenceAllele": "C", "start": 64807950 } ], "hgvs": [ "NC_000011.10:g.64807951C>T", "CM000673.2:g.64807951C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64575423, "referenceAllele": "C", "start": 64575422 } ], "hgvs": [ "NC_000011.9:g.64575423C>T", "CM000673.1:g.64575423C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64331999, "referenceAllele": "C", "start": 64331998 } ], "hgvs": [ "NC_000011.8:g.64331999C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 8344, "referenceAllele": "G", "start": 8343 } ], "hgvs": [ "NG_008929.1:g.8344G>A", "LRG_509:g.8344G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001307" }, { 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"ENSP00000366530.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913994" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.8:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.4:p.Trp198Ter", "hgvsWellDefined": "ENSP00000377899.4:p.Trp198_Leu225delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGluLeuAlaValProGluArgIleIleHisAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914005" }, { "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.7:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.3:p.Trp198Ter", "hgvsWellDefined": "ENSP00000377901.3:p.Trp198_Leu607delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914006" }, { "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.2:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.2:p.Trp198Ter", "hgvsWellDefined": "ENSP00000411218.2:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" 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"ENSP00000388016.2:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914043" }, { "coordinates": [ { "allele": "A", "end": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.6:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000402752.2:p.Trp198Ter", "hgvsWellDefined": "ENSP00000402752.2:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914051" }, { "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.2:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000500905.2:p.Trp198Ter", "hgvsWellDefined": "ENSP00000500905.2:p.Trp198_Glu350delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914443" }, { "coordinates": [ { "allele": "A", "end": 689, "referenceAllele": "G", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000710881.1:c.609G>A" ], "proteinEffect": { "hgvs": "ENSP00000518530.1:p.Trp203Ter", "hgvsWellDefined": "ENSP00000518530.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914570" }, { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.7:c.355G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824475" }, { "coordinates": [ { "allele": "A", "end": 626, "referenceAllele": "G", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.3:n.626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825290" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.2:n.346G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826859" }, { "coordinates": [ { "allele": "A", "end": 254, 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"ENSP00000308975.6:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745769" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.9:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Trp198Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745987" }, { "coordinates": [ { "allele": "A", "end": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.6:c.609G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Trp203Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751900" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.6:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.2:p.Trp198Ter", "hgvsWellDefined": "ENSP00000413944.2:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755813" }, { "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.7:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.3:p.Trp198Ter", "hgvsWellDefined": "ENSP00000394933.3:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756300", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.594G>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.594G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Trp198Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Trp198Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.2:n.634G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757266" }, { "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.1:n.661G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773216" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.1:n.254G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773225" }, { "coordinates": [ { "allele": "A", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.1:c.320G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773263" }, { "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672304.1:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000500585.1:p.Trp198Ter", "hgvsWellDefined": "ENSP00000500585.1:p.Trp198_Leu652delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773338" }, { "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.10:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Trp198Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247384" }, { "coordinates": [ { "allele": "A", "end": 1091, "referenceAllele": "G", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.8:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Trp198Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247139" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000337652.5:c.609G>A" ], "proteinEffect": { "hgvs": "ENSP00000337088.1:p.Trp203Ter", "hgvsWellDefined": "ENSP00000337088.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246730" }, { "coordinates": [ { "allele": "A", "end": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.5:c.609G>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Trp203Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247164" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "G", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377316.6:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000366533.1:p.Trp198Ter", "hgvsWellDefined": "ENSP00000366533.1:p.Trp198_Leu555delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246623" }, { "coordinates": [ { "allele": "A", "end": 617, "endIntronDirection": "+", "endIntronOffset": 45, "referenceAllele": "G", "start": 617, "startIntronDirection": "+", "startIntronOffset": 44 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377321.5:c.549+45G>A" ], "proteinEffect": { "hgvs": "ENSP00000366538.1:n.549+45G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247132" }, { "coordinates": [ { "allele": "A", "end": 1093, "referenceAllele": "G", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377326.7:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000366543.3:p.Trp198Ter", "hgvsWellDefined": "ENSP00000366543.3:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247410" }, { "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.6:c.609G>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.2:p.Trp203Ter", "hgvsWellDefined": "ENSP00000377899.2:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247296" }, { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "G", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.5:c.609G>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.1:p.Trp203Ter", "hgvsWellDefined": "ENSP00000377901.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247366" }, { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "G", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.1:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.1:p.Trp198Ter", "hgvsWellDefined": "ENSP00000411218.1:p.Trp198_Gln261del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247149" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.5:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.1:p.Trp198Ter", "hgvsWellDefined": "ENSP00000413944.1:p.Trp198Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247401" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.5:c.594G>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.1:p.Trp198Ter", "hgvsWellDefined": "ENSP00000394933.1:p.Trp198_Gly281del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247295" }, { "@id": "http://reg.genome.network/allele/PA257584", "coordinates": [ { "allele": "A", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.3:c.609G>A", "LRG_509t1:c.609G>A" ], "proteinEffect": { "hgvs": "NP_000235.2:p.Trp203Ter", "hgvsWellDefined": "NP_000235.2:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006306" }, { "@id": "http://reg.genome.network/allele/PA257583", "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.2:c.594G>A", "LRG_509t2:c.594G>A" ], "proteinEffect": { "hgvs": "NP_570711.1:p.Trp198Ter", "hgvsWellDefined": "NP_570711.1:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040412" }, { "coordinates": [ { "allele": "A", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.2:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570712.1:p.Trp203Ter", "hgvsWellDefined": "NP_570712.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040413" }, { "coordinates": [ { "allele": "A", "end": 670, "referenceAllele": "G", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.2:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570713.1:p.Trp203Ter", "hgvsWellDefined": "NP_570713.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040414" }, { "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "G", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.2:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570714.1:p.Trp203Ter", "hgvsWellDefined": "NP_570714.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040415" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.2:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570715.1:p.Trp203Ter", "hgvsWellDefined": "NP_570715.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040416" }, { "@id": "http://reg.genome.network/allele/PA916059446", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "G", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.2:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570716.1:p.Trp203Ter", "hgvsWellDefined": "NP_570716.1:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040417" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.3:c.594G>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Trp198Ter", "hgvsWellDefined": "XP_005274058.1:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067795" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545040.1:c.594G>A" ], "proteinEffect": { "hgvs": "XP_011543342.1:p.Trp198Ter", "hgvsWellDefined": "XP_011543342.1:p.Trp198_Leu652delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111947" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.1:c.594G>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Trp198Ter", "hgvsWellDefined": "XP_011543343.1:p.Trp198_Leu652delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111948" }, { "coordinates": [ { "allele": "A", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.1:c.594G>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Trp198Ter", "hgvsWellDefined": "XP_011543344.1:p.Trp198_Leu652delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111949" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.4:c.594G>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Trp198Ter", "hgvsWellDefined": "XP_005274058.1:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537539" }, { "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "G", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.2:c.594G>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Trp198Ter", "hgvsWellDefined": "XP_011543343.1:p.Trp198_Leu652delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555895" }, { "coordinates": [ { "allele": "A", "end": 689, "referenceAllele": "G", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.3:c.594G>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Trp198Ter", "hgvsWellDefined": "XP_011543344.1:p.Trp198_Leu652delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555896" }, { "coordinates": [ { "allele": "A", "end": 1101, "referenceAllele": "G", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017765.1:c.609G>A" ], "proteinEffect": { "hgvs": "XP_016873254.1:p.Trp203Ter", "hgvsWellDefined": "XP_016873254.1:p.Trp203_Leu657delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569877" }, { "coordinates": [ { "allele": "A", "end": 800, "referenceAllele": "G", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017766.1:c.609G>A" ], "proteinEffect": { "hgvs": "XP_016873255.1:p.Trp203Ter", "hgvsWellDefined": "XP_016873255.1:p.Trp203_Leu657delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569878" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017767.2:c.609G>A" ], "proteinEffect": { "hgvs": "XP_016873256.1:p.Trp203Ter", "hgvsWellDefined": "XP_016873256.1:p.Trp203_Leu657delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569879" }, { "coordinates": [ { "allele": "A", "end": 732, "referenceAllele": "G", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017768.1:c.609G>A" ], "proteinEffect": { "hgvs": "XP_016873257.1:p.Trp203Ter", "hgvsWellDefined": "XP_016873257.1:p.Trp203_Leu657delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569880" }, { "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "G", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017769.1:c.594G>A" ], "proteinEffect": { "hgvs": "XP_016873258.1:p.Trp198Ter", "hgvsWellDefined": "XP_016873258.1:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569881" }, { "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "G", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017770.2:c.594G>A" ], "proteinEffect": { "hgvs": "XP_016873259.1:p.Trp198Ter", "hgvsWellDefined": "XP_016873259.1:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569882" }, { "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.1:c.594G>A" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Trp198Ter", "hgvsWellDefined": "NP_001357180.1:p.Trp198_Leu652delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "@id": "http://reg.genome.network/allele/PA2828396175", "coordinates": [ { "allele": "A", "end": 655, "referenceAllele": "G", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370259.2:c.594G>A" ], "proteinEffect": { "hgvs": "NP_001357188.2:p.Trp198Ter", "hgvsWellDefined": "NP_001357188.2:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.594G>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.594G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Trp198Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Trp198Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.594G>A" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Trp198Ter", "hgvsWellDefined": "NP_001357189.1:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.594G>A" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Trp198Ter", "hgvsWellDefined": "NP_001357190.1:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "A", "end": 856, "endIntronDirection": "+", "endIntronOffset": 45, "referenceAllele": "G", "start": 856, "startIntronDirection": "+", "startIntronOffset": 44 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.549+45G>A" ], "proteinEffect": { "hgvs": "NP_001357191.1:n.549+45G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "A", "end": 610, "endIntronDirection": "+", "endIntronOffset": 45, "referenceAllele": "G", "start": 610, "startIntronDirection": "+", "startIntronOffset": 44 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.549+45G>A" ], "proteinEffect": { "hgvs": "NP_001357192.1:n.549+45G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825100573", "coordinates": [ { "allele": "A", "end": 689, "referenceAllele": "G", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.609G>A" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Trp203Ter", "hgvsWellDefined": "NP_000235.3:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2828394667", "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.594G>A" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Trp198Ter", "hgvsWellDefined": "NP_001357180.2:p.Trp198_Leu652delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828397825", "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.594G>A" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Trp198Ter", "hgvsWellDefined": "NP_001357189.2:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828399477", "coordinates": [ { "allele": "A", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.594G>A" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Trp198Ter", "hgvsWellDefined": "NP_001357190.2:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "coordinates": [ { "allele": "A", "end": 856, "endIntronDirection": "+", "endIntronOffset": 45, "referenceAllele": "G", "start": 856, "startIntronDirection": "+", "startIntronOffset": 44 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.549+45G>A" ], "proteinEffect": { "hgvs": "NP_001357191.2:n.549+45G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "coordinates": [ { "allele": "A", "end": 610, "endIntronDirection": "+", "endIntronOffset": 45, "referenceAllele": "G", "start": 610, "startIntronDirection": "+", "startIntronOffset": 44 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.549+45G>A" ], "proteinEffect": { "hgvs": "NP_001357192.2:n.549+45G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830170826", "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "G", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.594G>A" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Trp198Ter", "hgvsWellDefined": "NP_570711.2:p.Trp198_Leu610delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830172486", "coordinates": [ { "allele": "A", "end": 670, "referenceAllele": "G", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Trp203Ter", "hgvsWellDefined": "NP_570712.2:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830174146", "coordinates": [ { "allele": "A", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Trp203Ter", "hgvsWellDefined": "NP_570713.2:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830175806", "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "G", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Trp203Ter", "hgvsWellDefined": "NP_570714.2:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830177466", "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Trp203Ter", "hgvsWellDefined": "NP_570715.2:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2573297318", "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "G", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.609G>A" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Trp203Ter", "hgvsWellDefined": "NP_570716.2:p.Trp203_Leu615delinsHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }