{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3063903031", "communityStandardTitle": [ "NM_001370259.2(MEN1):c.420_421delinsTT (p.Ile141Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4169204[alleleid]", "alleleId": 4169204, "preferredName": "NM_001370259.2(MEN1):c.420_421delinsTT (p.Gln141Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4053819", "RCV": [ "RCV005602902" ], "variationId": 4053819 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "AA", "end": 64809690, "referenceAllele": "GG", "start": 64809688 } ], "hgvs": [ "NC_000011.10:g.64809689_64809690delinsAA", "CM000673.2:g.64809689_64809690delinsAA" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "AA", "end": 64577162, "referenceAllele": "GG", "start": 64577160 } ], "hgvs": [ "NC_000011.9:g.64577161_64577162delinsAA", "CM000673.1:g.64577161_64577162delinsAA" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "AA", "end": 64333738, "referenceAllele": "GG", "start": 64333736 } ], "hgvs": [ "NC_000011.8:g.64333737_64333738delinsAA" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "TT", "end": 6606, "referenceAllele": "CC", "start": 6604 } ], "hgvs": [ "NG_008929.1:g.6605_6606delinsTT", "LRG_509:g.6605_6606delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS001307" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "TT", "end": 728, "referenceAllele": "CC", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.7:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913994" }, { "coordinates": [ { "allele": "TT", "end": 482, "referenceAllele": "CC", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.8:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000377899.4:p.Ile141Ter", "hgvsWellDefined": "ENSP00000377899.4:p.Gln141_Leu225delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGluLeuAlaValProGluArgIleIleHisAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914005" }, { "coordinates": [ { "allele": "TT", "end": 485, "referenceAllele": "CC", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.7:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000377901.3:p.Ile141Ter", "hgvsWellDefined": "ENSP00000377901.3:p.Gln141_Leu607delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914006" }, { "coordinates": [ { "allele": "TT", "end": 526, "referenceAllele": "CC", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000411218.2:p.Ile141Ter", "hgvsWellDefined": "ENSP00000411218.2:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914026" }, { "coordinates": [ { "allele": "TT", "end": 797, "referenceAllele": "CC", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000424912.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000388016.2:p.Ile141Ter", "hgvsWellDefined": "ENSP00000388016.2:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914043" }, { "coordinates": [ { "allele": "TT", "end": 925, "referenceAllele": "CC", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.6:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000402752.2:p.Ile141Ter", "hgvsWellDefined": "ENSP00000402752.2:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914051" }, { "coordinates": [ { "allele": "TT", "end": 635, "referenceAllele": "CC", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000500905.2:p.Ile141Ter", "hgvsWellDefined": "ENSP00000500905.2:p.Gln141_Glu350delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914443" }, { "coordinates": [ { "allele": "TT", "end": 501, "referenceAllele": "CC", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000710881.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000518530.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000518530.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914570" }, { "coordinates": [ { "allele": "TT", "end": 182, "referenceAllele": "CC", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.7:c.181_182delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS824475" }, { "coordinates": [ { "allele": "TT", "end": 453, "referenceAllele": "CC", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.3:n.452_453delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS825290" }, { "coordinates": [ { "allele": "TT", "end": 173, "referenceAllele": "CC", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.2:n.172_173delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS826859" }, { "coordinates": [ { "allele": "TT", "end": 81, "referenceAllele": "CC", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.2:n.80_81delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS826860" }, { "coordinates": [ { "allele": "TT", "end": 501, "referenceAllele": "CC", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.11:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Ile141Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745769" }, { "coordinates": [ { "allele": "TT", "end": 728, "referenceAllele": "CC", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.9:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Ile141Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745987" }, { "coordinates": [ { "allele": "TT", "end": 444, "referenceAllele": "CC", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.6:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751900" }, { "coordinates": [ { "allele": "TT", "end": 500, "referenceAllele": "CC", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.6:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000413944.2:p.Ile141Ter", "hgvsWellDefined": "ENSP00000413944.2:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755813" }, { "coordinates": [ { "allele": "TT", "end": 482, "referenceAllele": "CC", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.7:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000394933.3:p.Ile141Ter", "hgvsWellDefined": "ENSP00000394933.3:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756300", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.420_421delinsTT" }, "RefSeq": { "hgvs": "NM_001370259.2:c.420_421delinsTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Ile141Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Ile141Ter" } } } }, { "coordinates": [ { "allele": "TT", "end": 461, "referenceAllele": "CC", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000478548.2:n.460_461delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS757266" }, { "coordinates": [ { "allele": "TT", "end": 488, "referenceAllele": "CC", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671939.1:n.487_488delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS773216" }, { "coordinates": [ { "allele": "TT", "end": 81, "referenceAllele": "CC", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000671965.1:n.80_81delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS773225" }, { "coordinates": [ { "allele": "TT", "end": 147, "referenceAllele": "CC", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672079.1:c.146_147delinsTT" ], "referenceSequence": "http://reg.genome.network/refseq/RS773263" }, { "coordinates": [ { "allele": "TT", "end": 470, "referenceAllele": "CC", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000672304.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000500585.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000500585.1:p.Gln141_Leu652delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773338" }, { "coordinates": [ { "allele": "TT", "end": 531, "referenceAllele": "CC", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000312049.10:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000308975.6:p.Ile141Ter", "hgvsWellDefined": "ENSP00000308975.6:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247384" }, { "coordinates": [ { "allele": "TT", "end": 918, "referenceAllele": "CC", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000315422.8:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000323747.4:p.Ile141Ter", "hgvsWellDefined": "ENSP00000323747.4:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247139" }, { "coordinates": [ { "allele": "TT", "end": 925, "referenceAllele": "CC", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000337652.5:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000337088.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000337088.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246730" }, { "coordinates": [ { "allele": "TT", "end": 444, "referenceAllele": "CC", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377313.5:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000366530.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000366530.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247164" }, { "coordinates": [ { "allele": "TT", "end": 797, "referenceAllele": "CC", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377316.6:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000366533.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000366533.1:p.Gln141_Leu555delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246623" }, { "coordinates": [ { "allele": "TT", "end": 489, "referenceAllele": "CC", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377321.5:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000366538.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000366538.1:p.Gln141_Leu575delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247132" }, { "coordinates": [ { "allele": "TT", "end": 920, "referenceAllele": "CC", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000377326.7:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000366543.3:p.Ile141Ter", "hgvsWellDefined": "ENSP00000366543.3:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247410" }, { "coordinates": [ { "allele": "TT", "end": 918, "referenceAllele": "CC", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394374.6:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000377899.2:p.Ile141Ter", "hgvsWellDefined": "ENSP00000377899.2:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247296" }, { "coordinates": [ { "allele": "TT", "end": 797, "referenceAllele": "CC", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000394376.5:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000377901.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000377901.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247366" }, { "coordinates": [ { "allele": "TT", "end": 508, "referenceAllele": "CC", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000413626.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000411218.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000411218.1:p.Gln141_Gln261del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247149" }, { "coordinates": [ { "allele": "TT", "end": 797, "referenceAllele": "CC", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000424912.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000388016.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000388016.1:p.Gln141Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247383" }, { "coordinates": [ { "allele": "TT", "end": 925, "referenceAllele": "CC", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000429702.5:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000402752.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000402752.1:p.Gln141Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247344" }, { "coordinates": [ { "allele": "TT", "end": 489, "referenceAllele": "CC", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000440873.5:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000413944.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000413944.1:p.Gln141Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247401" }, { "coordinates": [ { "allele": "TT", "end": 500, "referenceAllele": "CC", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "ENST00000450708.5:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "ENSP00000394933.1:p.Ile141Ter", "hgvsWellDefined": "ENSP00000394933.1:p.Gln141_Gly281del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247295" }, { "coordinates": [ { "allele": "TT", "end": 531, "referenceAllele": "CC", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.3:c.420_421delinsTT", "LRG_509t1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_000235.2:p.Ile141Ter", "hgvsWellDefined": "NP_000235.2:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006306" }, { "coordinates": [ { "allele": "TT", "end": 531, "referenceAllele": "CC", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.2:c.420_421delinsTT", "LRG_509t2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570711.1:p.Ile141Ter", "hgvsWellDefined": "NP_570711.1:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040412" }, { "coordinates": [ { "allele": "TT", "end": 494, "referenceAllele": "CC", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570712.1:p.Ile141Ter", "hgvsWellDefined": "NP_570712.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040413" }, { "coordinates": [ { "allele": "TT", "end": 482, "referenceAllele": "CC", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570713.1:p.Ile141Ter", "hgvsWellDefined": "NP_570713.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040414" }, { "coordinates": [ { "allele": "TT", "end": 918, "referenceAllele": "CC", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570714.1:p.Ile141Ter", "hgvsWellDefined": "NP_570714.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040415" }, { "coordinates": [ { "allele": "TT", "end": 925, "referenceAllele": "CC", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570715.1:p.Ile141Ter", "hgvsWellDefined": "NP_570715.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040416" }, { "coordinates": [ { "allele": "TT", "end": 797, "referenceAllele": "CC", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570716.1:p.Ile141Ter", "hgvsWellDefined": "NP_570716.1:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040417" }, { "coordinates": [ { "allele": "TT", "end": 913, "referenceAllele": "CC", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.3:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Ile141Ter", "hgvsWellDefined": "XP_005274058.1:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067795" }, { "coordinates": [ { "allele": "TT", "end": 913, "referenceAllele": "CC", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545040.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_011543342.1:p.Ile141Ter", "hgvsWellDefined": "XP_011543342.1:p.Gln141_Leu652delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111947" }, { "coordinates": [ { "allele": "TT", "end": 642, "referenceAllele": "CC", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Ile141Ter", "hgvsWellDefined": "XP_011543343.1:p.Gln141_Leu652delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111948" }, { "coordinates": [ { "allele": "TT", "end": 504, "referenceAllele": "CC", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Ile141Ter", "hgvsWellDefined": "XP_011543344.1:p.Gln141_Leu652delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111949" }, { "coordinates": [ { "allele": "TT", "end": 913, "referenceAllele": "CC", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_005274001.4:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_005274058.1:p.Ile141Ter", "hgvsWellDefined": "XP_005274058.1:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537539" }, { "coordinates": [ { "allele": "TT", "end": 612, "referenceAllele": "CC", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545041.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_011543343.1:p.Ile141Ter", "hgvsWellDefined": "XP_011543343.1:p.Gln141_Leu652delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555895" }, { "coordinates": [ { "allele": "TT", "end": 516, "referenceAllele": "CC", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_011545042.3:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_011543344.1:p.Ile141Ter", "hgvsWellDefined": "XP_011543344.1:p.Gln141_Leu652delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555896" }, { "coordinates": [ { "allele": "TT", "end": 913, "referenceAllele": "CC", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017765.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_016873254.1:p.Ile141Ter", "hgvsWellDefined": "XP_016873254.1:p.Gln141_Leu657delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569877" }, { "coordinates": [ { "allele": "TT", "end": 612, "referenceAllele": "CC", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017766.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_016873255.1:p.Ile141Ter", "hgvsWellDefined": "XP_016873255.1:p.Gln141_Leu657delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569878" }, { "coordinates": [ { "allele": "TT", "end": 518, "referenceAllele": "CC", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017767.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_016873256.1:p.Ile141Ter", "hgvsWellDefined": "XP_016873256.1:p.Gln141_Leu657delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569879" }, { "coordinates": [ { "allele": "TT", "end": 544, "referenceAllele": "CC", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017768.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_016873257.1:p.Ile141Ter", "hgvsWellDefined": "XP_016873257.1:p.Gln141_Leu657delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569880" }, { "coordinates": [ { "allele": "TT", "end": 612, "referenceAllele": "CC", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017769.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_016873258.1:p.Ile141Ter", "hgvsWellDefined": "XP_016873258.1:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569881" }, { "coordinates": [ { "allele": "TT", "end": 513, "referenceAllele": "CC", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "XM_017017770.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "XP_016873259.1:p.Ile141Ter", "hgvsWellDefined": "XP_016873259.1:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569882" }, { "coordinates": [ { "allele": "TT", "end": 470, "referenceAllele": "CC", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357180.1:p.Ile141Ter", "hgvsWellDefined": "NP_001357180.1:p.Gln141_Leu652delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692261" }, { "coordinates": [ { "allele": "TT", "end": 482, "referenceAllele": "CC", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370259.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357188.2:p.Ile141Ter", "hgvsWellDefined": "NP_001357188.2:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000450708.7:c.420_421delinsTT" }, "RefSeq": { "hgvs": "NM_001370259.2:c.420_421delinsTT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394933.3:p.Ile141Ter" }, "RefSeq": { "hgvs": "NP_001357188.2:p.Ile141Ter" } } } }, { "coordinates": [ { "allele": "TT", "end": 470, "referenceAllele": "CC", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357189.1:p.Ile141Ter", "hgvsWellDefined": "NP_001357189.1:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692270" }, { "coordinates": [ { "allele": "TT", "end": 728, "referenceAllele": "CC", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357190.1:p.Ile141Ter", "hgvsWellDefined": "NP_001357190.1:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692271" }, { "coordinates": [ { "allele": "TT", "end": 728, "referenceAllele": "CC", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357191.1:p.Ile141Ter", "hgvsWellDefined": "NP_001357191.1:p.Gln141_Leu575delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692272" }, { "coordinates": [ { "allele": "TT", "end": 482, "referenceAllele": "CC", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.1:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357192.1:p.Ile141Ter", "hgvsWellDefined": "NP_001357192.1:p.Gln141_Leu575delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProAlaAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692273" }, { "coordinates": [ { "allele": "TT", "end": 501, "referenceAllele": "CC", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_000244.4:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_000235.3:p.Ile141Ter", "hgvsWellDefined": "NP_000235.3:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781556" }, { "coordinates": [ { "allele": "TT", "end": 470, "referenceAllele": "CC", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370251.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357180.2:p.Ile141Ter", "hgvsWellDefined": "NP_001357180.2:p.Gln141_Leu652delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnGluThrValSerAsnLeuGlnCysLeuThrThrIleIleGlnGlnTrpAspPheHisProArgProHisAlaProLeuLeuIleLeuAlaPhePheLeuTrpAlaAspProAspSerIleIleLeuHisTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781994" }, { "coordinates": [ { "allele": "TT", "end": 470, "referenceAllele": "CC", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370260.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357189.2:p.Ile141Ter", "hgvsWellDefined": "NP_001357189.2:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781995" }, { "coordinates": [ { "allele": "TT", "end": 728, "referenceAllele": "CC", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370261.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357190.2:p.Ile141Ter", "hgvsWellDefined": "NP_001357190.2:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781996" }, { "coordinates": [ { "allele": "TT", "end": 728, "referenceAllele": "CC", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370262.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357191.2:p.Ile141Ter", "hgvsWellDefined": "NP_001357191.2:p.Gln141_Leu575delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781997" }, { "coordinates": [ { "allele": "TT", "end": 482, "referenceAllele": "CC", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_001370263.2:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_001357192.2:p.Ile141Ter", "hgvsWellDefined": "NP_001357192.2:p.Gln141_Leu575delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781998" }, { "coordinates": [ { "allele": "TT", "end": 501, "referenceAllele": "CC", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130799.3:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570711.2:p.Ile141Ter", "hgvsWellDefined": "NP_570711.2:p.Gln141_Leu610delinsSerLeuPheSerPheIleThrGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784284" }, { "coordinates": [ { "allele": "TT", "end": 482, "referenceAllele": "CC", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130800.3:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570712.2:p.Ile141Ter", "hgvsWellDefined": "NP_570712.2:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784285" }, { "coordinates": [ { "allele": "TT", "end": 470, "referenceAllele": "CC", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130801.3:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570713.2:p.Ile141Ter", "hgvsWellDefined": "NP_570713.2:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784286" }, { "coordinates": [ { "allele": "TT", "end": 728, "referenceAllele": "CC", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130802.3:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570714.2:p.Ile141Ter", "hgvsWellDefined": "NP_570714.2:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784287" }, { "coordinates": [ { "allele": "TT", "end": 925, "referenceAllele": "CC", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130803.3:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570715.2:p.Ile141Ter", "hgvsWellDefined": "NP_570715.2:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784288" }, { "coordinates": [ { "allele": "TT", "end": 797, "referenceAllele": "CC", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007010", "geneNCBI_id": 4221, "geneSymbol": "MEN1", "hgvs": [ "NM_130804.3:c.420_421delinsTT" ], "proteinEffect": { "hgvs": "NP_570716.2:p.Ile141Ter", "hgvsWellDefined": "NP_570716.2:p.Gln141_Leu615delinsSerLeuPheSerPheIleThrGlyTrpSerProValGlyThrLysLeuAspSerSerGlyValAlaPheAlaValValGlyAlaCysGlnAlaLeuGlyLeuArgAspValHisLeuAlaLeuSerGluAspHisAlaTrpValValPheGlyProAsnGlyGluGlnThrAlaGluValThrTrpHisGlyLysGlyAsnGluAspArgArgGlyGlnThrValAsnAlaGlyValAlaGluArgSerTrpLeuTyrLeuLysGlySerTyrMetArgCysAspArgLysMetGluValAlaPheMetValCysAlaIleAsnProSerIleAspLeuHisThrAspSerLeuGluLeuLeuGlnLeuGlnGlnLysLeuLeuTrpLeuLeuTyrAspLeuGlyHisLeuGluArgTyrProMetAlaLeuGlyAsnLeuAlaAspLeuGluGluLeuGluProThrProGlyArgProAspProLeuThrLeuTyrHisLysGlyIleAlaSerAlaLysThrTyrTyrArgAspGluHisIleTyrProTyrMetTyrLeuAlaGlyTyrHisCysArgAsnArgAsnValArgGluAlaLeuGlnAlaTrpAlaAspThrAlaThrValIleGlnAspTyrAsnTyrCysArgGluAspGluGluIleTyrLysGluPhePheGluValAlaAsnAspValIleProAsnLeuLeuLysGluAlaAlaSerLeuLeuGluAlaGlyGluGluArgProGlyGluGlnSerGlnGlyThrGlnSerGlnGlySerAlaLeuGlnAspProGluCysPheAlaHisLeuLeuArgPheTyrAspGlyIleCysLysTrpGluGluGlySerProThrProValLeuHisValGlyTrpAlaThrPheLeuValGlnSerLeuGlyArgPheGluGlyGlnValArgGlnLysValArgIleValSerArgGluAlaGluAlaAlaGluAlaGluGluProTrpGlyGluGluAlaArgGluGlyArgArgArgGlyProArgArgGluSerLysProGluGluProProProProLysLysProAlaLeuAspLysGlyLeuGlyThrGlyGlnGlyAlaValSerGlyProProArgLysProProGlyThrValAlaGlyThrAlaArgGlyProGluGlyGlySerThrAlaGlnValProAlaProThrAlaSerProProProGluGlyProValLeuThrPheGlnSerGluLysMetLysGlyMetLysGluLeuLeuValAlaThrLysIleAsnSerSerAlaIleLysLeuGlnLeuThrAlaGlnSerGlnValGlnMetLysLysGlnLysValSerThrProSerAspTyrThrLeuSerPheLeuLysArgGlnArgLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784289" } ], "type": "nucleotide" }