{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381187241", "communityStandardTitle": [ "NM_001370259.2(MEN1):c.399C>A (p.Tyr133Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3382236[alleleid]", "alleleId": 3382236, "preferredName": "NM_001370259.2(MEN1):c.399C>A (p.Tyr133Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3229097", "RCV": [ "RCV004522720" ], "variationId": 3229097 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64577183G>T?assembly=hg19", "id": "chr11:g.64577183G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64809711G>T?assembly=hg38", "id": "chr11:g.64809711G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1592657892", "rs": 1592657892 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64809711, "referenceAllele": "G", "start": 64809710 } ], "hgvs": [ "NC_000011.10:g.64809711G>T", "CM000673.2:g.64809711G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64577183, "referenceAllele": "G", "start": 64577182 } ], "hgvs": [ "NC_000011.9:g.64577183G>T", "CM000673.1:g.64577183G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 64333759, "referenceAllele": "G", "start": 64333758 } ], "hgvs": [ "NC_000011.8:g.64333759G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 6584, "referenceAllele": "C", "start": 6583 } ], "hgvs": [ "NG_008929.1:g.6584C>A", "LRG_509:g.6584C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001307" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.7:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913994" }, { "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.8:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.4:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000377899.4:p.Tyr133_Leu225delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGluLeuAlaValProGluArgIleIleHisAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914005" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.7:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.3:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000377901.3:p.Tyr133_Leu607delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914006" }, { "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.2:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.2:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000411218.2:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914026" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000424912.2:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000388016.2:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000388016.2:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914043" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.6:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000402752.2:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000402752.2:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914051" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.2:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000500905.2:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000500905.2:p.Tyr133_Glu350delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914443" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000710881.1:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000518530.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000518530.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914570" }, { "coordinates": [ { "allele": "A", "end": 160, "referenceAllele": "C", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.7:c.160C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824475" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.3:n.431C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825290" }, { "coordinates": [ { "allele": "A", "end": 151, "referenceAllele": "C", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.2:n.151C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826859" }, { "coordinates": [ { "allele": "A", "end": 59, "referenceAllele": "C", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.2:n.59C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826860" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.11:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745769" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.9:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745987" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.6:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751900" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.6:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.2:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000413944.2:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755813" }, { "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.7:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.3:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000394933.3:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756300", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.399C>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.399C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Tyr133Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Tyr133Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.2:n.439C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757266" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.1:n.466C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773216" }, { "coordinates": [ { "allele": "A", "end": 59, "referenceAllele": "C", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.1:n.59C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773225" }, { "coordinates": [ { "allele": "A", "end": 125, "referenceAllele": "C", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.1:c.125C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773263" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672304.1:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000500585.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000500585.1:p.Tyr133_Leu652delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773338" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.10:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247384" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.8:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247139" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000337652.5:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000337088.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000337088.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246730" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.5:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247164" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377316.6:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000366533.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000366533.1:p.Tyr133_Leu555delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246623" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377321.5:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000366538.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000366538.1:p.Tyr133_Leu575delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247132" }, { "coordinates": [ { "allele": "A", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377326.7:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000366543.3:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000366543.3:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247410" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.6:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000377899.2:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000377899.2:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247296" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.5:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000377901.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000377901.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247366" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.1:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000411218.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000411218.1:p.Tyr133_Gln261del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247149" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000424912.1:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000388016.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000388016.1:p.Tyr133Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247383" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.5:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000402752.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000402752.1:p.Tyr133Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247344" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.5:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000413944.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000413944.1:p.Tyr133Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247401" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.5:c.399C>A" ], "proteinEffect": { "hgvs": "ENSP00000394933.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000394933.1:p.Tyr133_Gly281del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247295" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.3:c.399C>A", "LRG_509t1:c.399C>A" ], "proteinEffect": { "hgvs": "NP_000235.2:p.Tyr133Ter", "hgvsWellDefined": "NP_000235.2:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006306" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.2:c.399C>A", "LRG_509t2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570711.1:p.Tyr133Ter", "hgvsWellDefined": "NP_570711.1:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040412" }, { "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570712.1:p.Tyr133Ter", "hgvsWellDefined": "NP_570712.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040413" }, { "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570713.1:p.Tyr133Ter", "hgvsWellDefined": "NP_570713.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040414" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570714.1:p.Tyr133Ter", "hgvsWellDefined": "NP_570714.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040415" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570715.1:p.Tyr133Ter", "hgvsWellDefined": "NP_570715.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040416" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570716.1:p.Tyr133Ter", "hgvsWellDefined": "NP_570716.1:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040417" }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.3:c.399C>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Tyr133Ter", "hgvsWellDefined": "XP_005274058.1:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067795" }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545040.1:c.399C>A" ], "proteinEffect": { "hgvs": "XP_011543342.1:p.Tyr133Ter", "hgvsWellDefined": "XP_011543342.1:p.Tyr133_Leu652delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111947" }, { "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.1:c.399C>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Tyr133Ter", "hgvsWellDefined": "XP_011543343.1:p.Tyr133_Leu652delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111948" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.1:c.399C>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Tyr133Ter", "hgvsWellDefined": "XP_011543344.1:p.Tyr133_Leu652delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111949" }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.4:c.399C>A" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Tyr133Ter", "hgvsWellDefined": "XP_005274058.1:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537539" }, { "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.2:c.399C>A" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Tyr133Ter", "hgvsWellDefined": "XP_011543343.1:p.Tyr133_Leu652delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555895" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.3:c.399C>A" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Tyr133Ter", "hgvsWellDefined": "XP_011543344.1:p.Tyr133_Leu652delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555896" }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017765.1:c.399C>A" ], "proteinEffect": { "hgvs": "XP_016873254.1:p.Tyr133Ter", "hgvsWellDefined": "XP_016873254.1:p.Tyr133_Leu657delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569877" }, { "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017766.1:c.399C>A" ], "proteinEffect": { "hgvs": "XP_016873255.1:p.Tyr133Ter", "hgvsWellDefined": "XP_016873255.1:p.Tyr133_Leu657delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569878" }, { "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017767.2:c.399C>A" ], "proteinEffect": { "hgvs": "XP_016873256.1:p.Tyr133Ter", "hgvsWellDefined": "XP_016873256.1:p.Tyr133_Leu657delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569879" }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017768.1:c.399C>A" ], "proteinEffect": { "hgvs": "XP_016873257.1:p.Tyr133Ter", "hgvsWellDefined": "XP_016873257.1:p.Tyr133_Leu657delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569880" }, { "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017769.1:c.399C>A" ], "proteinEffect": { "hgvs": "XP_016873258.1:p.Tyr133Ter", "hgvsWellDefined": "XP_016873258.1:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569881" }, { "coordinates": [ { "allele": "A", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017770.2:c.399C>A" ], "proteinEffect": { "hgvs": "XP_016873259.1:p.Tyr133Ter", "hgvsWellDefined": "XP_016873259.1:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569882" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.1:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Tyr133Ter", "hgvsWellDefined": "NP_001357180.1:p.Tyr133_Leu652delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "@id": "http://reg.genome.network/allele/PA2828395993", "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370259.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357188.2:p.Tyr133Ter", "hgvsWellDefined": "NP_001357188.2:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.399C>A" }, "RefSeq": { "hgvs": "NM_001370259.2:c.399C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Tyr133Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Tyr133Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Tyr133Ter", "hgvsWellDefined": "NP_001357189.1:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Tyr133Ter", "hgvsWellDefined": "NP_001357190.1:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357191.1:p.Tyr133Ter", "hgvsWellDefined": "NP_001357191.1:p.Tyr133_Leu575delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357192.1:p.Tyr133Ter", "hgvsWellDefined": "NP_001357192.1:p.Tyr133_Leu575delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825100381", "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.399C>A" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Tyr133Ter", "hgvsWellDefined": "NP_000235.3:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2828394483", "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Tyr133Ter", "hgvsWellDefined": "NP_001357180.2:p.Tyr133_Leu652delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828397641", "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Tyr133Ter", "hgvsWellDefined": "NP_001357189.2:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828399295", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Tyr133Ter", "hgvsWellDefined": "NP_001357190.2:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "@id": "http://reg.genome.network/allele/PA2828400947", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357191.2:p.Tyr133Ter", "hgvsWellDefined": "NP_001357191.2:p.Tyr133_Leu575delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "@id": "http://reg.genome.network/allele/PA2828402506", "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.399C>A" ], "proteinEffect": { "hgvs": "NP_001357192.2:p.Tyr133Ter", "hgvsWellDefined": "NP_001357192.2:p.Tyr133_Leu575delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830170643", "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "C", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Tyr133Ter", "hgvsWellDefined": "NP_570711.2:p.Tyr133_Leu610delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830172294", "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Tyr133Ter", "hgvsWellDefined": "NP_570712.2:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830173956", "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Tyr133Ter", "hgvsWellDefined": "NP_570713.2:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830175614", "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Tyr133Ter", "hgvsWellDefined": "NP_570714.2:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830177275", "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Tyr133Ter", "hgvsWellDefined": "NP_570715.2:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2830178647", "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.399C>A" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Tyr133Ter", "hgvsWellDefined": "NP_570716.2:p.Tyr133_Leu615delinsPheLysAspArgAlaHisIleGlnSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }