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"XP_011530232.1:p.Trp413_Ala649delinsProTrpGlnValSerLeuGlnValLysLeuThrAlaGlnArgHisLeuCysGlyGlySerLeuIleGlyHisGlnTrpValLeuThrAlaAlaHisCysPheAspGlyLeuProLeuGlnAspValTrpArgIleTyrSerGlyIleLeuAsnLeuSerAspIleThrLysAspThrProPheSerGlnIleLysGluIleIleIleHisGlnAsnTyrLysValSerGluGlyAsnHisAspIleAlaLeuIleLysLeuGlnAlaProLeuAsnTyrThrGluPheGlnLysProIleCysLeuProSerLysGlyAspThrSerThrIleTyrThrAsnCysTrpValThrGlyTrpGlyPheSerLysGluLysGlyGluIleGlnAsnIleLeuGlnLysValAsnIleProLeuValThrAsnGluGluCysGlnLysArgTyrGlnAspTyrLysIleThrGlnArgMetValCysAlaGlyTyrLysGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuValCysLysHisAsnGlyMetTrpArgLeuValGlyIleThrSerTrpGlyGluGlyCysAlaArgArgGluGlnProGlyValTyrThrLysValAlaGluTyrMetAspTrpIleLeuGluLysThrGlnSerSerAspGlyLysAlaGlnMetGlnSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550624" }, { "coordinates": [ { "allele": "A", "end": 2073, "referenceAllele": "G", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN006371", "geneNCBI_id": 3818, "geneSymbol": "KLKB1", "hgvs": [ "XM_017008181.1:c.1238G>A" ], "proteinEffect": { "hgvs": "XP_016863670.1:p.Trp413Ter", "hgvsWellDefined": "XP_016863670.1:p.Trp413_Ala649delinsProTrpGlnValSerLeuGlnValLysLeuThrAlaGlnArgHisLeuCysGlyGlySerLeuIleGlyHisGlnTrpValLeuThrAlaAlaHisCysPheAspGlyLeuProLeuGlnAspValTrpArgIleTyrSerGlyIleLeuAsnLeuSerAspIleThrLysAspThrProPheSerGlnIleLysGluIleIleIleHisGlnAsnTyrLysValSerGluGlyAsnHisAspIleAlaLeuIleLysLeuGlnAlaProLeuAsnTyrThrGluPheGlnLysProIleCysLeuProSerLysGlyAspThrSerThrIleTyrThrAsnCysTrpValThrGlyTrpGlyPheSerLysGluLysGlyGluIleGlnAsnIleLeuGlnLysValAsnIleProLeuValThrAsnGluGluCysGlnLysArgTyrGlnAspTyrLysIleThrGlnArgMetValCysAlaGlyTyrLysGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuValCysLysHisAsnGlyMetTrpArgLeuValGlyIleThrSerTrpGlyGluGlyCysAlaArgArgGluGlnProGlyValTyrThrLysValAlaGluTyrMetAspTrpIleLeuGluLysThrGlnSerSerAspGlyLysAlaGlnMetGlnSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562736" }, { "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "G", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN006371", "geneNCBI_id": 3818, "geneSymbol": "KLKB1", "hgvs": [ "XM_017008182.1:c.1238G>A" ], "proteinEffect": { "hgvs": "XP_016863671.1:p.Trp413Ter", "hgvsWellDefined": "XP_016863671.1:p.Trp413_Gly563delinsProTrpGlnValSerLeuGlnValLysLeuThrAlaGlnArgHisLeuCysGlyGlySerLeuIleGlyHisGlnTrpValLeuThrAlaAlaHisCysPheAspGlyLeuProLeuGlnAspValTrpArgIleTyrSerGlyIleLeuAsnLeuSerAspIleThrLysAspThrProPheSerGlnIleLysGluIleIleIleHisGlnAsnTyrLysValSerGluGlyAsnHisAspIleAlaLeuIleLysLeuGlnAlaProLeuAsnTyrThrGluPheGlnLysProIleCysLeuProSerLysGlyAspThrSerThrIleTyrThrAsnCysTrpValThrGlyTrpGlyPheSerLysGluLysGlyArgPheArgTrpSerLeuSerLeuGlnThrGlnTrpAsnValAlaPheGlyGlyHisHisGlnLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562737" }, { "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "G", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN006371", "geneNCBI_id": 3818, "geneSymbol": "KLKB1", "hgvs": [ "XM_017008183.1:c.1205G>A" ], "proteinEffect": { "hgvs": "XP_016863672.1:p.Trp402Ter", "hgvsWellDefined": "XP_016863672.1:p.Trp402_Gly552delinsProTrpGlnValSerLeuGlnValLysLeuThrAlaGlnArgHisLeuCysGlyGlySerLeuIleGlyHisGlnTrpValLeuThrAlaAlaHisCysPheAspGlyLeuProLeuGlnAspValTrpArgIleTyrSerGlyIleLeuAsnLeuSerAspIleThrLysAspThrProPheSerGlnIleLysGluIleIleIleHisGlnAsnTyrLysValSerGluGlyAsnHisAspIleAlaLeuIleLysLeuGlnAlaProLeuAsnTyrThrGluPheGlnLysProIleCysLeuProSerLysGlyAspThrSerThrIleTyrThrAsnCysTrpValThrGlyTrpGlyPheSerLysGluLysGlyArgPheArgTrpSerLeuSerLeuGlnThrGlnTrpAsnValAlaPheGlyGlyHisHisGlnLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562738" }, { "coordinates": [ { "allele": "A", "end": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN006371", "geneNCBI_id": 3818, "geneSymbol": "KLKB1", "hgvs": [ "XM_017008184.1:c.599G>A" ], "proteinEffect": { "hgvs": "XP_016863673.1:p.Trp200Ter", "hgvsWellDefined": "XP_016863673.1:p.Trp200_Ala436delinsProTrpGlnValSerLeuGlnValLysLeuThrAlaGlnArgHisLeuCysGlyGlySerLeuIleGlyHisGlnTrpValLeuThrAlaAlaHisCysPheAspGlyLeuProLeuGlnAspValTrpArgIleTyrSerGlyIleLeuAsnLeuSerAspIleThrLysAspThrProPheSerGlnIleLysGluIleIleIleHisGlnAsnTyrLysValSerGluGlyAsnHisAspIleAlaLeuIleLysLeuGlnAlaProLeuAsnTyrThrGluPheGlnLysProIleCysLeuProSerLysGlyAspThrSerThrIleTyrThrAsnCysTrpValThrGlyTrpGlyPheSerLysGluLysGlyGluIleGlnAsnIleLeuGlnLysValAsnIleProLeuValThrAsnGluGluCysGlnLysArgTyrGlnAspTyrLysIleThrGlnArgMetValCysAlaGlyTyrLysGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuValCysLysHisAsnGlyMetTrpArgLeuValGlyIleThrSerTrpGlyGluGlyCysAlaArgArgGluGlnProGlyValTyrThrLysValAlaGluTyrMetAspTrpIleLeuGluLysThrGlnSerSerAspGlyLysAlaGlnMetGlnSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562739" }, { "@id": "http://reg.genome.network/allele/PA121830", "coordinates": [ { "allele": "A", "end": 1287, "referenceAllele": "G", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN006371", "geneNCBI_id": 3818, "geneSymbol": "KLKB1", "hgvs": [ "NM_000892.5:c.1205G>A" ], "proteinEffect": { "hgvs": "NP_000883.2:p.Trp402Ter", "hgvsWellDefined": "NP_000883.2:p.Trp402_Ala638delinsProTrpGlnValSerLeuGlnValLysLeuThrAlaGlnArgHisLeuCysGlyGlySerLeuIleGlyHisGlnTrpValLeuThrAlaAlaHisCysPheAspGlyLeuProLeuGlnAspValTrpArgIleTyrSerGlyIleLeuAsnLeuSerAspIleThrLysAspThrProPheSerGlnIleLysGluIleIleIleHisGlnAsnTyrLysValSerGluGlyAsnHisAspIleAlaLeuIleLysLeuGlnAlaProLeuAsnTyrThrGluPheGlnLysProIleCysLeuProSerLysGlyAspThrSerThrIleTyrThrAsnCysTrpValThrGlyTrpGlyPheSerLysGluLysGlyGluIleGlnAsnIleLeuGlnLysValAsnIleProLeuValThrAsnGluGluCysGlnLysArgTyrGlnAspTyrLysIleThrGlnArgMetValCysAlaGlyTyrLysGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuValCysLysHisAsnGlyMetTrpArgLeuValGlyIleThrSerTrpGlyGluGlyCysAlaArgArgGluGlnProGlyValTyrThrLysValAlaGluTyrMetAspTrpIleLeuGluLysThrGlnSerSerAspGlyLysAlaGlnMetGlnSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662632", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264690.11:c.1205G>A" }, "RefSeq": { "hgvs": "NM_000892.5:c.1205G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264690.6:p.Trp402Ter" }, "RefSeq": { "hgvs": "NP_000883.2:p.Trp402Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826990823", "coordinates": [ { "allele": "A", "end": 1356, "referenceAllele": "G", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN006371", "geneNCBI_id": 3818, "geneSymbol": "KLKB1", "hgvs": [ "NM_001318394.2:c.1091G>A" ], "proteinEffect": { "hgvs": "NP_001305323.1:p.Trp364Ter", "hgvsWellDefined": "NP_001305323.1:p.Trp364_Gly514delinsProTrpGlnValSerLeuGlnValLysLeuThrAlaGlnArgHisLeuCysGlyGlySerLeuIleGlyHisGlnTrpValLeuThrAlaAlaHisCysPheAspGlyLeuProLeuGlnAspValTrpArgIleTyrSerGlyIleLeuAsnLeuSerAspIleThrLysAspThrProPheSerGlnIleLysGluIleIleIleHisGlnAsnTyrLysValSerGluGlyAsnHisAspIleAlaLeuIleLysLeuGlnAlaProLeuAsnTyrThrGluPheGlnLysProIleCysLeuProSerLysGlyAspThrSerThrIleTyrThrAsnCysTrpValThrGlyTrpGlyPheSerLysGluLysGlyArgPheArgTrpSerLeuSerLeuGlnThrGlnTrpAsnValAlaPheGlyGlyHisHisGlnLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684517" }, { "@id": "http://reg.genome.network/allele/PA2826990859", "coordinates": [ { "allele": "A", "end": 1318, "referenceAllele": "G", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN006371", "geneNCBI_id": 3818, "geneSymbol": "KLKB1", "hgvs": [ "NM_001318396.2:c.599G>A" ], "proteinEffect": { "hgvs": "NP_001305325.1:p.Trp200Ter", "hgvsWellDefined": "NP_001305325.1:p.Trp200_Ala436delinsProTrpGlnValSerLeuGlnValLysLeuThrAlaGlnArgHisLeuCysGlyGlySerLeuIleGlyHisGlnTrpValLeuThrAlaAlaHisCysPheAspGlyLeuProLeuGlnAspValTrpArgIleTyrSerGlyIleLeuAsnLeuSerAspIleThrLysAspThrProPheSerGlnIleLysGluIleIleIleHisGlnAsnTyrLysValSerGluGlyAsnHisAspIleAlaLeuIleLysLeuGlnAlaProLeuAsnTyrThrGluPheGlnLysProIleCysLeuProSerLysGlyAspThrSerThrIleTyrThrAsnCysTrpValThrGlyTrpGlyPheSerLysGluLysGlyGluIleGlnAsnIleLeuGlnLysValAsnIleProLeuValThrAsnGluGluCysGlnLysArgTyrGlnAspTyrLysIleThrGlnArgMetValCysAlaGlyTyrLysGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuValCysLysHisAsnGlyMetTrpArgLeuValGlyIleThrSerTrpGlyGluGlyCysAlaArgArgGluGlnProGlyValTyrThrLysValAlaGluTyrMetAspTrpIleLeuGluLysThrGlnSerSerAspGlyLysAlaGlnMetGlnSerProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684519" } ], "type": "nucleotide" }