{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA381185382", "communityStandardTitle": [ "NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=250167", "active": true, "id": "COSM250167" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=566009[alleleid]", "alleleId": 566009, "preferredName": "NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571001", "RCV": [ "RCV000692015" ], "variationId": 571001 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64575392G>A?assembly=hg19", "id": "chr11:g.64575392G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.64807920G>A?assembly=hg38", "id": "chr11:g.64807920G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1565647767", "rs": 1565647767 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 64807920, "referenceAllele": "G", "start": 64807919 } ], "hgvs": [ "NC_000011.10:g.64807920G>A", "CM000673.2:g.64807920G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 64575392, "referenceAllele": "G", "start": 64575391 } ], "hgvs": [ "NC_000011.9:g.64575392G>A", "CM000673.1:g.64575392G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 64331968, "referenceAllele": "G", "start": 64331967 } ], "hgvs": [ "NC_000011.8:g.64331968G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 8375, "referenceAllele": "C", "start": 8374 } ], "hgvs": [ "NG_008929.1:g.8375C>T", "LRG_509:g.8375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001307" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "C", "start": 321 } ], "hgvs": [ "NG_033040.1:g.322C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005373" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "C", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.7:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913994" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.8:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000377899.4:p.Gln209Ter", "hgvsWellDefined": "ENSP00000377899.4:p.Gln209_Leu225delinsThrValAsnAlaGluLeuAlaValProGluArgIleIleHisAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914005" }, { "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.7:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000377901.3:p.Gln209Ter", "hgvsWellDefined": "ENSP00000377901.3:p.Gln209_Leu607delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914006" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.2:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000411218.2:p.Gln209Ter", "hgvsWellDefined": "ENSP00000411218.2:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914026" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000424912.2:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000388016.2:p.Gln209Ter", "hgvsWellDefined": "ENSP00000388016.2:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914043" }, { "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.6:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000402752.2:p.Gln209Ter", "hgvsWellDefined": "ENSP00000402752.2:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914051" }, { "coordinates": [ { "allele": "T", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.2:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000500905.2:p.Gln209Ter", "hgvsWellDefined": "ENSP00000500905.2:p.Gln209_Glu350delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914443" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000710881.1:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000518530.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000518530.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914570" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.7:c.386C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS824475" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.3:n.657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825290" }, { "coordinates": [ { "allele": "T", "end": 377, "referenceAllele": "C", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.2:n.377C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826859" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.2:n.285C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826860" }, { "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.11:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Gln209Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745769" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.9:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Gln209Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745987" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.6:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751900" }, { "coordinates": [ { "allele": "T", "end": 704, "referenceAllele": "C", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.6:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000413944.2:p.Gln209Ter", "hgvsWellDefined": "ENSP00000413944.2:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755813" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.7:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000394933.3:p.Gln209Ter", "hgvsWellDefined": "ENSP00000394933.3:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756300", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.625C>T" }, "RefSeq": { "hgvs": "NM_001370259.2:c.625C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Gln209Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Gln209Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 665, "referenceAllele": "C", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.2:n.665C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757266" }, { "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.1:n.692C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773216" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.1:n.285C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773225" }, { "coordinates": [ { "allele": "T", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.1:c.351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773263" }, { "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672304.1:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000500585.1:p.Gln209Ter", "hgvsWellDefined": "ENSP00000500585.1:p.Gln209_Leu652delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773338" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.10:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Gln209Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247384" }, { "coordinates": [ { "allele": "T", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.8:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Gln209Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247139" }, { "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000337652.5:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000337088.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000337088.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246730" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.5:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247164" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "C", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377316.6:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000366533.1:p.Gln209Ter", "hgvsWellDefined": "ENSP00000366533.1:p.Gln209_Leu555delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246623" }, { "coordinates": [ { "allele": "T", "end": 617, "endIntronDirection": "+", "endIntronOffset": 76, "referenceAllele": "C", "start": 617, "startIntronDirection": "+", "startIntronOffset": 75 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377321.5:c.549+76C>T" ], "proteinEffect": { "hgvs": "ENSP00000366538.1:n.549+76C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247132" }, { "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377326.7:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000366543.3:p.Gln209Ter", "hgvsWellDefined": "ENSP00000366543.3:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247410" }, { "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.6:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000377899.2:p.Gln214Ter", "hgvsWellDefined": "ENSP00000377899.2:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247296" }, { "coordinates": [ { "allele": "T", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.5:c.640C>T" ], "proteinEffect": { "hgvs": "ENSP00000377901.1:p.Gln214Ter", "hgvsWellDefined": "ENSP00000377901.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247366" }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.1:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000411218.1:p.Gln209Ter", "hgvsWellDefined": "ENSP00000411218.1:p.Gln209_Gln261del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247149" }, { "coordinates": [ { "allele": "T", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.5:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000413944.1:p.Gln209Ter", "hgvsWellDefined": "ENSP00000413944.1:p.Gln209Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247401" }, { "coordinates": [ { "allele": "T", "end": 704, "referenceAllele": "C", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.5:c.625C>T" ], "proteinEffect": { "hgvs": "ENSP00000394933.1:p.Gln209Ter", "hgvsWellDefined": "ENSP00000394933.1:p.Gln209_Gly281del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247295" }, { "@id": "http://reg.genome.network/allele/PA891846791", "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "C", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.3:c.640C>T", "LRG_509t1:c.640C>T" ], "proteinEffect": { "hgvs": "NP_000235.2:p.Gln214Ter", "hgvsWellDefined": "NP_000235.2:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006306" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.2:c.625C>T", "LRG_509t2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_570711.1:p.Gln209Ter", "hgvsWellDefined": "NP_570711.1:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040412" }, { "coordinates": [ { "allele": "T", "end": 713, "referenceAllele": "C", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.2:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570712.1:p.Gln214Ter", "hgvsWellDefined": "NP_570712.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040413" }, { "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.2:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570713.1:p.Gln214Ter", "hgvsWellDefined": "NP_570713.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040414" }, { "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.2:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570714.1:p.Gln214Ter", "hgvsWellDefined": "NP_570714.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040415" }, { "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.2:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570715.1:p.Gln214Ter", "hgvsWellDefined": "NP_570715.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040416" }, { "@id": "http://reg.genome.network/allele/PA916059452", "coordinates": [ { "allele": "T", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.2:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570716.1:p.Gln214Ter", "hgvsWellDefined": "NP_570716.1:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040417" }, { "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.3:c.625C>T" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Gln209Ter", "hgvsWellDefined": "XP_005274058.1:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067795" }, { "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545040.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011543342.1:p.Gln209Ter", "hgvsWellDefined": "XP_011543342.1:p.Gln209_Leu652delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111947" }, { "coordinates": [ { "allele": "T", "end": 846, "referenceAllele": "C", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Gln209Ter", "hgvsWellDefined": "XP_011543343.1:p.Gln209_Leu652delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111948" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Gln209Ter", "hgvsWellDefined": "XP_011543344.1:p.Gln209_Leu652delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111949" }, { "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.4:c.625C>T" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Gln209Ter", "hgvsWellDefined": "XP_005274058.1:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537539" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.2:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Gln209Ter", "hgvsWellDefined": "XP_011543343.1:p.Gln209_Leu652delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555895" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.3:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Gln209Ter", "hgvsWellDefined": "XP_011543344.1:p.Gln209_Leu652delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555896" }, { "coordinates": [ { "allele": "T", "end": 1132, "referenceAllele": "C", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017765.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873254.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873254.1:p.Gln214_Leu657delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569877" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017766.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873255.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873255.1:p.Gln214_Leu657delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569878" }, { "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "C", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017767.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873256.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873256.1:p.Gln214_Leu657delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569879" }, { "coordinates": [ { "allele": "T", "end": 763, "referenceAllele": "C", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017768.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_016873257.1:p.Gln214Ter", "hgvsWellDefined": "XP_016873257.1:p.Gln214_Leu657delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569880" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017769.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_016873258.1:p.Gln209Ter", "hgvsWellDefined": "XP_016873258.1:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569881" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017770.2:c.625C>T" ], "proteinEffect": { "hgvs": "XP_016873259.1:p.Gln209Ter", "hgvsWellDefined": "XP_016873259.1:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569882" }, { "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Gln209Ter", "hgvsWellDefined": "NP_001357180.1:p.Gln209_Leu652delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "@id": "http://reg.genome.network/allele/PA2828396199", "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370259.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001357188.2:p.Gln209Ter", "hgvsWellDefined": "NP_001357188.2:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.625C>T" }, "RefSeq": { "hgvs": "NM_001370259.2:c.625C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Gln209Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Gln209Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Gln209Ter", "hgvsWellDefined": "NP_001357189.1:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Gln209Ter", "hgvsWellDefined": "NP_001357190.1:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "T", "end": 856, "endIntronDirection": "+", "endIntronOffset": 76, "referenceAllele": "C", "start": 856, "startIntronDirection": "+", "startIntronOffset": 75 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.549+76C>T" ], "proteinEffect": { "hgvs": "NP_001357191.1:n.549+76C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "T", "end": 610, "endIntronDirection": "+", "endIntronOffset": 76, "referenceAllele": "C", "start": 610, "startIntronDirection": "+", "startIntronOffset": 75 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.549+76C>T" ], "proteinEffect": { "hgvs": "NP_001357192.1:n.549+76C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "@id": "http://reg.genome.network/allele/PA2825100597", "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.640C>T" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Gln214Ter", "hgvsWellDefined": "NP_000235.3:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "@id": "http://reg.genome.network/allele/PA2828394690", "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Gln209Ter", "hgvsWellDefined": "NP_001357180.2:p.Gln209_Leu652delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "@id": "http://reg.genome.network/allele/PA2828397847", "coordinates": [ { "allele": "T", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Gln209Ter", "hgvsWellDefined": "NP_001357189.2:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "@id": "http://reg.genome.network/allele/PA2828399501", "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.625C>T" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Gln209Ter", "hgvsWellDefined": "NP_001357190.2:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "coordinates": [ { "allele": "T", "end": 856, "endIntronDirection": "+", "endIntronOffset": 76, "referenceAllele": "C", "start": 856, "startIntronDirection": "+", "startIntronOffset": 75 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.549+76C>T" ], "proteinEffect": { "hgvs": "NP_001357191.2:n.549+76C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "coordinates": [ { "allele": "T", "end": 610, "endIntronDirection": "+", "endIntronOffset": 76, "referenceAllele": "C", "start": 610, "startIntronDirection": "+", "startIntronOffset": 75 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.549+76C>T" ], "proteinEffect": { "hgvs": "NP_001357192.2:n.549+76C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "@id": "http://reg.genome.network/allele/PA2830170850", "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.625C>T" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Gln209Ter", "hgvsWellDefined": "NP_570711.2:p.Gln209_Leu610delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "@id": "http://reg.genome.network/allele/PA2830172510", "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Gln214Ter", "hgvsWellDefined": "NP_570712.2:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "@id": "http://reg.genome.network/allele/PA2830174170", "coordinates": [ { "allele": "T", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Gln214Ter", "hgvsWellDefined": "NP_570713.2:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "@id": "http://reg.genome.network/allele/PA2830175828", "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "C", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Gln214Ter", "hgvsWellDefined": "NP_570714.2:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "@id": "http://reg.genome.network/allele/PA2830177490", "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Gln214Ter", "hgvsWellDefined": "NP_570715.2:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "@id": "http://reg.genome.network/allele/PA2573297334", "coordinates": [ { "allele": "T", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.640C>T" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Gln214Ter", "hgvsWellDefined": "NP_570716.2:p.Gln214_Leu615delinsThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }