{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA353840644", "communityStandardTitle": [ "NM_020654.5(SENP7):c.1474C>T (p.Gln492Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2523903[alleleid]", "alleleId": 2523903, "preferredName": "NM_020654.5(SENP7):c.1474C>T (p.Gln492Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2501008", "RCV": [ "RCV003226605" ], "variationId": 2501008 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.101083680G>A?assembly=hg19", "id": "chr3:g.101083680G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.101364836G>A?assembly=hg38", "id": "chr3:g.101364836G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/777487611", "rs": 777487611 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 101364836, "referenceAllele": "G", "start": 101364835 } ], "hgvs": [ "NC_000003.12:g.101364836G>A", "CM000665.2:g.101364836G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 101083680, "referenceAllele": "G", "start": 101083679 } ], "hgvs": [ "NC_000003.11:g.101083680G>A", "CM000665.1:g.101083680G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 102566370, "referenceAllele": "G", "start": 102566369 } ], "hgvs": [ "NC_000003.10:g.102566370G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1556, "referenceAllele": "C", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "ENST00000394095.7:c.1474C>T" ], "proteinEffect": { "hgvs": "ENSP00000377655.2:p.Gln492Ter", "hgvsWellDefined": "ENSP00000377655.2:p.Gln492_Ser1050delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394095.7:c.1474C>T" }, "RefSeq": { "hgvs": "NM_020654.5:c.1474C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377655.2:p.Gln492Ter" }, "RefSeq": { "hgvs": "NP_065705.3:p.Gln492Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "ENST00000314261.11:c.1276C>T" ], "proteinEffect": { "hgvs": "ENSP00000313624.7:p.Gln426Ter", "hgvsWellDefined": "ENSP00000313624.7:p.Gln426_Ser984delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256932" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "C", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "ENST00000348610.3:c.1375C>T" ], "proteinEffect": { "hgvs": "ENSP00000342159.3:p.Gln459Ter", "hgvsWellDefined": "ENSP00000342159.3:p.Gln459_Ser1017delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262494" }, { "coordinates": [ { "allele": "T", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "ENST00000394091.5:c.982C>T" ], "proteinEffect": { "hgvs": "ENSP00000377651.1:p.Gln328Ter", "hgvsWellDefined": "ENSP00000377651.1:p.Gln328_Ser886delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275975" }, { "coordinates": [ { "allele": "T", "end": 1354, "referenceAllele": "C", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "ENST00000394094.6:c.1279C>T" ], "proteinEffect": { "hgvs": "ENSP00000377654.2:p.Gln427Ter", "hgvsWellDefined": "ENSP00000377654.2:p.Gln427_Ser985delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275977" }, { "coordinates": [ { "allele": "T", "end": 1528, "referenceAllele": "C", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "ENST00000394095.6:c.1474C>T" ], "proteinEffect": { "hgvs": "ENSP00000377655.2:p.Gln492Ter", "hgvsWellDefined": "ENSP00000377655.2:p.Gln492_Ser1050delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275978" }, { "@id": "http://reg.genome.network/allele/PA2825442132", "coordinates": [ { "allele": "T", "end": 1390, "referenceAllele": "C", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_001077203.2:c.1279C>T" ], "proteinEffect": { "hgvs": "NP_001070671.1:p.Gln427Ter", "hgvsWellDefined": "NP_001070671.1:p.Gln427_Ser985delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009942" }, { "@id": "http://reg.genome.network/allele/PA2826671412", "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_001282801.1:c.1276C>T" ], "proteinEffect": { "hgvs": "NP_001269730.1:p.Gln426Ter", "hgvsWellDefined": "NP_001269730.1:p.Gln426_Ser984delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022271" }, { "@id": "http://reg.genome.network/allele/PA2826671464", "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_001282802.1:c.1375C>T" ], "proteinEffect": { "hgvs": "NP_001269731.1:p.Gln459Ter", "hgvsWellDefined": "NP_001269731.1:p.Gln459_Ser1017delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022272" }, { "@id": "http://reg.genome.network/allele/PA2826671500", "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_001282803.1:c.982C>T" ], "proteinEffect": { "hgvs": "NP_001269732.1:p.Gln328Ter", "hgvsWellDefined": "NP_001269732.1:p.Gln328_Ser886delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022273" }, { "@id": "http://reg.genome.network/allele/PA2741972023", "coordinates": [ { "allele": "T", "end": 1585, "referenceAllele": "C", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_020654.4:c.1474C>T" ], "proteinEffect": { "hgvs": "NP_065705.3:p.Gln492Ter", "hgvsWellDefined": "NP_065705.3:p.Gln492_Ser1050delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036478" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_005247662.3:c.1081C>T" ], "proteinEffect": { "hgvs": "XP_005247719.1:p.Gln361Ter", "hgvsWellDefined": "XP_005247719.1:p.Gln361_Ser919delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058147" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513038.1:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011511340.1:p.Gln493Ter", "hgvsWellDefined": "XP_011511340.1:p.Gln493_Ser1051delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080293" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513039.1:c.1378C>T" ], "proteinEffect": { "hgvs": "XP_011511341.1:p.Gln460Ter", "hgvsWellDefined": "XP_011511341.1:p.Gln460_Ser1018delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080294" }, { "coordinates": [ { "allele": "T", "end": 2035, "referenceAllele": "C", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513040.1:c.1282C>T" ], "proteinEffect": { "hgvs": "XP_011511342.1:p.Gln428Ter", "hgvsWellDefined": "XP_011511342.1:p.Gln428_Ser986delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080295" }, { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513041.1:c.1279C>T" ], "proteinEffect": { "hgvs": "XP_011511343.1:p.Gln427Ter", "hgvsWellDefined": "XP_011511343.1:p.Gln427_Ser985delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080296" }, { "coordinates": [ { "allele": "T", "end": 1837, "referenceAllele": "C", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513042.1:c.1084C>T" ], "proteinEffect": { "hgvs": "XP_011511344.1:p.Gln362Ter", "hgvsWellDefined": "XP_011511344.1:p.Gln362_Ser920delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080297" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513043.1:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011511345.1:p.Gln493Ter", "hgvsWellDefined": "XP_011511345.1:p.Gln493_Cys834delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerAsnLeuIleAsnIleCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080298" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513044.1:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011511346.1:p.Gln493Ter", "hgvsWellDefined": "XP_011511346.1:p.Gln493_His783delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysCysHisAspThrLysIleLysSerMetTrpMetThrLeuThrIleLeuAsnLeuSerGlyAlaArgSerThrTyrTyrThrPheIleThrAspTyrIlePheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080299" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513045.1:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011511347.1:p.Gln493Ter", "hgvsWellDefined": "XP_011511347.1:p.Gln493_Lys558delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnGluGluIleGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080300" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_005247662.5:c.1081C>T" ], "proteinEffect": { "hgvs": "XP_005247719.1:p.Gln361Ter", "hgvsWellDefined": "XP_005247719.1:p.Gln361_Ser919delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532895" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513038.3:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011511340.1:p.Gln493Ter", "hgvsWellDefined": "XP_011511340.1:p.Gln493_Ser1051delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542759" }, { "coordinates": [ { "allele": "T", "end": 2180, "referenceAllele": "C", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513039.3:c.1378C>T" ], "proteinEffect": { "hgvs": "XP_011511341.1:p.Gln460Ter", "hgvsWellDefined": "XP_011511341.1:p.Gln460_Ser1018delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542760" }, { "coordinates": [ { "allele": "T", "end": 2035, "referenceAllele": "C", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513040.3:c.1282C>T" ], "proteinEffect": { "hgvs": "XP_011511342.1:p.Gln428Ter", "hgvsWellDefined": "XP_011511342.1:p.Gln428_Ser986delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542761" }, { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513041.3:c.1279C>T" ], "proteinEffect": { "hgvs": "XP_011511343.1:p.Gln427Ter", "hgvsWellDefined": "XP_011511343.1:p.Gln427_Ser985delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542762" }, { "coordinates": [ { "allele": "T", "end": 1837, "referenceAllele": "C", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513042.3:c.1084C>T" ], "proteinEffect": { "hgvs": "XP_011511344.1:p.Gln362Ter", "hgvsWellDefined": "XP_011511344.1:p.Gln362_Ser920delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542763" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_011513045.3:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_011511347.1:p.Gln493Ter", "hgvsWellDefined": "XP_011511347.1:p.Gln493_Lys558delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnGluGluIleGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542764" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_017006924.1:c.1378C>T" ], "proteinEffect": { "hgvs": "XP_016862413.1:p.Gln460Ter", "hgvsWellDefined": "XP_016862413.1:p.Gln460_Ser1018delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561814" }, { "coordinates": [ { "allele": "T", "end": 1550, "referenceAllele": "C", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_017006925.1:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_016862414.1:p.Gln459Ter", "hgvsWellDefined": "XP_016862414.1:p.Gln459_Ser1017delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561815" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_017006926.1:c.1180C>T" ], "proteinEffect": { "hgvs": "XP_016862415.1:p.Gln394Ter", "hgvsWellDefined": "XP_016862415.1:p.Gln394_Ser952delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561816" }, { "coordinates": [ { "allele": "T", "end": 1285, "referenceAllele": "C", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_017006927.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_016862416.1:p.Gln393Ter", "hgvsWellDefined": "XP_016862416.1:p.Gln393_Ser951delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561817" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XM_017006928.2:c.1477C>T" ], "proteinEffect": { "hgvs": "XP_016862417.1:p.Gln493Ter", "hgvsWellDefined": "XP_016862417.1:p.Gln493_Cys834delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerAsnLeuIleAsnIleCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561818" }, { "coordinates": [ { "allele": "T", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "XR_001740218.2:n.2230C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590439" }, { "@id": "http://reg.genome.network/allele/PA2741972023", "coordinates": [ { "allele": "T", "end": 1556, "referenceAllele": "C", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_020654.5:c.1474C>T" ], "proteinEffect": { "hgvs": "NP_065705.3:p.Gln492Ter", "hgvsWellDefined": "NP_065705.3:p.Gln492_Ser1050delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670045", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394095.7:c.1474C>T" }, "RefSeq": { "hgvs": "NM_020654.5:c.1474C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377655.2:p.Gln492Ter" }, "RefSeq": { "hgvs": "NP_065705.3:p.Gln492Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825442132", "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "C", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_001077203.3:c.1279C>T" ], "proteinEffect": { "hgvs": "NP_001070671.1:p.Gln427Ter", "hgvsWellDefined": "NP_001070671.1:p.Gln427_Ser985delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676141" }, { "@id": "http://reg.genome.network/allele/PA2826671412", "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_001282801.2:c.1276C>T" ], "proteinEffect": { "hgvs": "NP_001269730.1:p.Gln426Ter", "hgvsWellDefined": "NP_001269730.1:p.Gln426_Ser984delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681915" }, { "@id": "http://reg.genome.network/allele/PA2826671464", "coordinates": [ { "allele": "T", "end": 1506, "referenceAllele": "C", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_001282802.2:c.1375C>T" ], "proteinEffect": { "hgvs": "NP_001269731.1:p.Gln459Ter", "hgvsWellDefined": "NP_001269731.1:p.Gln459_Ser1017delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681916" }, { "@id": "http://reg.genome.network/allele/PA2826671500", "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "C", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN030402", "geneNCBI_id": 57337, "geneSymbol": "SENP7", "hgvs": [ "NM_001282803.2:c.982C>T" ], "proteinEffect": { "hgvs": "NP_001269732.1:p.Gln328Ter", "hgvsWellDefined": "NP_001269732.1:p.Gln328_Ser886delinsMetSerSerGluLeuCysProTyrAsnProValMetGluAsnIleSerSerIleMetProSerAsnGluMetAspLeuGlnLeuAspPheIlePheThrSerValTyrIleGlyLysIleLysGlyAlaSerLysGlyCysValThrIleThrLysLysTyrIleLysIleProPheGlnValSerLeuAsnGluIleSerLeuLeuValAspThrThrHisLeuLysArgPheGlyLeuTrpLysSerLysAspAspAsnHisSerLysArgSerHisAlaIleLeuPhePheTrpValSerSerAspTyrLeuGlnGluIleGlnThrGlnLeuGluHisSerValLeuSerGlnGlnSerLysSerSerGluPheIlePheLeuGluLeuHisAsnProValSerGlnArgGluGluLeuLysLeuLysAspIleMetThrGluIleSerIleIleSerGlyGluLeuGluLeuSerTyrProLeuSerTrpValGlnAlaPheProLeuPheGlnAsnLeuSerSerLysGluSerSerPheIleHisTyrTyrCysValSerThrCysSerPheProAlaGlyValAlaValAlaGluGluMetLysLeuLysSerValSerGlnProSerAsnThrAspAlaAlaLysProThrTyrThrPheLeuGlnLysGlnSerSerGlyCysTyrSerLeuSerIleThrSerAsnProAspGluGluTrpArgGluValArgHisThrGlyLeuValGlnLysLeuIleValTyrProProProProThrLysGlyGlyLeuGlyValThrAsnGluAspLeuGluCysLeuGluGluGlyGluPheLeuAsnAspValIleIleAspPheTyrLeuLysTyrLeuIleLeuGluLysAlaSerAspGluLeuValGluArgSerHisIlePheSerSerPhePheTyrLysCysLeuThrArgLysGluAsnAsnLeuThrGluAspAsnProAsnLeuSerMetAlaGlnArgArgHisLysArgValArgThrTrpThrArgHisIleAsnIlePheAsnLysAspTyrIlePheValProValAsnGluSerSerHisTrpTyrLeuAlaValIleCysPheProTrpLeuGluGluAlaValTyrGluAspPheProGlnThrValSerGlnGlnSerGlnAlaGlnGlnSerGlnAsnAspAsnLysThrIleAspAsnAspLeuArgThrThrSerThrLeuSerLeuSerAlaGluAspSerGlnSerThrGluSerAsnMetSerValProLysLysMetCysLysArgProCysIleLeuIleLeuAspSerLeuLysAlaAlaSerValGlnAsnThrValGlnAsnLeuArgGluTyrLeuGluValGluTrpGluValLysLeuLysThrHisArgGlnPheSerLysThrAsnMetValAspLeuCysProLysValProLysGlnAspAsnSerSerAspCysGlyValTyrLeuLeuGlnTyrValGluSerPhePheLysAspProIleValAsnPheGluLeuProIleHisLeuGluLysTrpPheProArgHisValIleLysThrLysArgGluAspIleArgGluLeuIleLeuLysLeuHisLeuGlnGlnGlnLysGlySerSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681917" } ], "type": "nucleotide" }