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}, "referenceSequence": "http://reg.genome.network/refseq/RS753530", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396463.7:c.438G>A" }, "RefSeq": { "hgvs": "NM_001143992.2:c.438G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379727.3:p.Trp146Ter" }, "RefSeq": { "hgvs": "NP_001137464.1:p.Trp146Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "ENST00000316024.9:c.438G>A" ], "proteinEffect": { "hgvs": "ENSP00000324203.5:p.Trp146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS257166" }, { "coordinates": [ { "allele": "A", "end": 680, "referenceAllele": "G", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "ENST00000396463.6:c.438G>A" ], "proteinEffect": { "hgvs": "ENSP00000379727.2:p.Trp146Ter", "hgvsWellDefined": "ENSP00000379727.2:p.Trp146_Ile548delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrValAlaSerSerSerArgGluAsnProIleHisIleTrpAspAlaPheThrGlyGluLeuArgAlaSerPheArgAlaTyrAsnHisLeuAspGluLeuThrAlaAlaHisSerLeuCysPheSerProAspGlySerGlnLeuPheCysGlyPheAsnArgThrValArgValPheSerThrAlaArgProGlyArgAspCysGluValArgAlaThrPheAlaLysLysGlnGlyGlnSerGlyIleIleSerCysIleAlaPheSerProAlaGlnProLeuTyrAlaCysGlySerTyrGlyArgSerLeuGlyLeuTyrAlaTrpAspAspGlySerProLeuAlaLeuLeuGlyGlyHisGlnGlyGlyIleThrHisLeuCysPheHisProAspGlyAsnArgPhePheSerGlyAlaArgLysAspAlaGluLeuLeuCysTrpAspLeuArgGlnSerGlyTyrProLeuTrpSerLeuGlyArgGluValThrThrAsnGlnArgIleTyrPheAspLeuAspProThrGlyGlnPheLeuValSerGlySerThrSerGlyAlaValSerValTrpAspThrAspGlyProGlyAsnAspGlyLysProGluProValLeuSerPheLeuProGlnLysAspCysThrAsnGlyValSerLeuHisProSerLeuProLeuLeuAlaThrAlaSerGlyGlnArgValPheProGluProThrGluSerGlyAspGluGlyGluGluLeuGlyLeuProLeuLeuSerThrArgHisValHisLeuGluCysArgLeuGlnLeuTrpTrpCysGlyGlyAlaProAspSerSerIleProAspAspHisGlnGlyGluLysGlyGlnGlyGlyThrGluGlyGlyValGlyGluLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277286" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "ENST00000431639.6:c.438G>A" ], "proteinEffect": { "hgvs": "ENSP00000397219.2:p.Trp146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS291717" }, { "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "ENST00000457584.6:c.438G>A" ], "proteinEffect": { "hgvs": "ENSP00000411061.2:p.Trp146Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS304018" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "ENST00000467699.5:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310786" }, { "coordinates": [ { "allele": "A", "end": 1401, "referenceAllele": "G", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "ENST00000498311.5:c.438G>A" ], "proteinEffect": { "hgvs": "ENSP00000432991.1:p.Trp146Ter", "hgvsWellDefined": "ENSP00000432991.1:p.Trp146_Ser287delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrThrGlyValSerValSerMetSerLeuSerAlaTrpProAlaAlaAlaGlyArgThrArgPheIleSerGlyThrHisSerLeuGluSerSerGlyLeuProPheAlaProThrThrThrTrpMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS334344" }, { "coordinates": [ { "allele": "A", "end": 603, "endIntronDirection": "+", "endIntronOffset": 151, "referenceAllele": "G", "start": 603, "startIntronDirection": "+", "startIntronOffset": 150 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "ENST00000534050.5:c.431+151G>A" ], "proteinEffect": { "hgvs": "ENSP00000434999.1:n.431+151G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS358725" }, { "@id": "http://reg.genome.network/allele/PA2825861270", "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "NM_001143990.1:c.438G>A" ], "proteinEffect": { "hgvs": "NP_001137462.1:p.Trp146Ter", "hgvsWellDefined": "NP_001137462.1:p.Trp146_Ile548delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrValAlaSerSerSerArgGluAsnProIleHisIleTrpAspAlaPheThrGlyGluLeuArgAlaSerPheArgAlaTyrAsnHisLeuAspGluLeuThrAlaAlaHisSerLeuCysPheSerProAspGlySerGlnLeuPheCysGlyPheAsnArgThrValArgValPheSerThrAlaArgProGlyArgAspCysGluValArgAlaThrPheAlaLysLysGlnGlyGlnSerGlyIleIleSerCysIleAlaPheSerProAlaGlnProLeuTyrAlaCysGlySerTyrGlyArgSerLeuGlyLeuTyrAlaTrpAspAspGlySerProLeuAlaLeuLeuGlyGlyHisGlnGlyGlyIleThrHisLeuCysPheHisProAspGlyAsnArgPhePheSerGlyAlaArgLysAspAlaGluLeuLeuCysTrpAspLeuArgGlnSerGlyTyrProLeuTrpSerLeuGlyArgGluValThrThrAsnGlnArgIleTyrPheAspLeuAspProThrGlyGlnPheLeuValSerGlySerThrSerGlyAlaValSerValTrpAspThrAspGlyProGlyAsnAspGlyLysProGluProValLeuSerPheLeuProGlnLysAspCysThrAsnGlyValSerLeuHisProSerLeuProLeuLeuAlaThrAlaSerGlyGlnArgValPheProGluProThrGluSerGlyAspGluGlyGluGluLeuGlyLeuProLeuLeuSerThrArgHisValHisLeuGluCysArgLeuGlnLeuTrpTrpCysGlyGlyAlaProAspSerSerIleProAspAspHisGlnGlyGluLysGlyGlnGlyGlyThrGluGlyGlyValGlyGluLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013233" }, { "@id": "http://reg.genome.network/allele/PA2825861594", "coordinates": [ { "allele": "A", "end": 603, "referenceAllele": "G", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "NM_001143991.1:c.438G>A" ], "proteinEffect": { "hgvs": "NP_001137463.1:p.Trp146Ter", "hgvsWellDefined": "NP_001137463.1:p.Trp146_Ile548delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrValAlaSerSerSerArgGluAsnProIleHisIleTrpAspAlaPheThrGlyGluLeuArgAlaSerPheArgAlaTyrAsnHisLeuAspGluLeuThrAlaAlaHisSerLeuCysPheSerProAspGlySerGlnLeuPheCysGlyPheAsnArgThrValArgValPheSerThrAlaArgProGlyArgAspCysGluValArgAlaThrPheAlaLysLysGlnGlyGlnSerGlyIleIleSerCysIleAlaPheSerProAlaGlnProLeuTyrAlaCysGlySerTyrGlyArgSerLeuGlyLeuTyrAlaTrpAspAspGlySerProLeuAlaLeuLeuGlyGlyHisGlnGlyGlyIleThrHisLeuCysPheHisProAspGlyAsnArgPhePheSerGlyAlaArgLysAspAlaGluLeuLeuCysTrpAspLeuArgGlnSerGlyTyrProLeuTrpSerLeuGlyArgGluValThrThrAsnGlnArgIleTyrPheAspLeuAspProThrGlyGlnPheLeuValSerGlySerThrSerGlyAlaValSerValTrpAspThrAspGlyProGlyAsnAspGlyLysProGluProValLeuSerPheLeuProGlnLysAspCysThrAsnGlyValSerLeuHisProSerLeuProLeuLeuAlaThrAlaSerGlyGlnArgValPheProGluProThrGluSerGlyAspGluGlyGluGluLeuGlyLeuProLeuLeuSerThrArgHisValHisLeuGluCysArgLeuGlnLeuTrpTrpCysGlyGlyAlaProAspSerSerIleProAspAspHisGlnGlyGluLysGlyGlnGlyGlyThrGluGlyGlyValGlyGluLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013234" }, { "@id": "http://reg.genome.network/allele/PA2825861922", "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "G", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "NM_001143992.1:c.438G>A" ], "proteinEffect": { "hgvs": "NP_001137464.1:p.Trp146Ter", "hgvsWellDefined": "NP_001137464.1:p.Trp146_Ile548delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrValAlaSerSerSerArgGluAsnProIleHisIleTrpAspAlaPheThrGlyGluLeuArgAlaSerPheArgAlaTyrAsnHisLeuAspGluLeuThrAlaAlaHisSerLeuCysPheSerProAspGlySerGlnLeuPheCysGlyPheAsnArgThrValArgValPheSerThrAlaArgProGlyArgAspCysGluValArgAlaThrPheAlaLysLysGlnGlyGlnSerGlyIleIleSerCysIleAlaPheSerProAlaGlnProLeuTyrAlaCysGlySerTyrGlyArgSerLeuGlyLeuTyrAlaTrpAspAspGlySerProLeuAlaLeuLeuGlyGlyHisGlnGlyGlyIleThrHisLeuCysPheHisProAspGlyAsnArgPhePheSerGlyAlaArgLysAspAlaGluLeuLeuCysTrpAspLeuArgGlnSerGlyTyrProLeuTrpSerLeuGlyArgGluValThrThrAsnGlnArgIleTyrPheAspLeuAspProThrGlyGlnPheLeuValSerGlySerThrSerGlyAlaValSerValTrpAspThrAspGlyProGlyAsnAspGlyLysProGluProValLeuSerPheLeuProGlnLysAspCysThrAsnGlyValSerLeuHisProSerLeuProLeuLeuAlaThrAlaSerGlyGlnArgValPheProGluProThrGluSerGlyAspGluGlyGluGluLeuGlyLeuProLeuLeuSerThrArgHisValHisLeuGluCysArgLeuGlnLeuTrpTrpCysGlyGlyAlaProAspSerSerIleProAspAspHisGlnGlyGluLysGlyGlnGlyGlyThrGluGlyGlyValGlyGluLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013235" }, { "@id": "http://reg.genome.network/allele/PA2580419672", "coordinates": [ { "allele": "A", "end": 738, "referenceAllele": "G", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "NM_018081.2:c.438G>A", "LRG_375t1:c.438G>A" ], "proteinEffect": { "hgvs": "NP_060551.2:p.Trp146Ter", "hgvsWellDefined": "NP_060551.2:p.Trp146_Ile548delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrValAlaSerSerSerArgGluAsnProIleHisIleTrpAspAlaPheThrGlyGluLeuArgAlaSerPheArgAlaTyrAsnHisLeuAspGluLeuThrAlaAlaHisSerLeuCysPheSerProAspGlySerGlnLeuPheCysGlyPheAsnArgThrValArgValPheSerThrAlaArgProGlyArgAspCysGluValArgAlaThrPheAlaLysLysGlnGlyGlnSerGlyIleIleSerCysIleAlaPheSerProAlaGlnProLeuTyrAlaCysGlySerTyrGlyArgSerLeuGlyLeuTyrAlaTrpAspAspGlySerProLeuAlaLeuLeuGlyGlyHisGlnGlyGlyIleThrHisLeuCysPheHisProAspGlyAsnArgPhePheSerGlyAlaArgLysAspAlaGluLeuLeuCysTrpAspLeuArgGlnSerGlyTyrProLeuTrpSerLeuGlyArgGluValThrThrAsnGlnArgIleTyrPheAspLeuAspProThrGlyGlnPheLeuValSerGlySerThrSerGlyAlaValSerValTrpAspThrAspGlyProGlyAsnAspGlyLysProGluProValLeuSerPheLeuProGlnLysAspCysThrAsnGlyValSerLeuHisProSerLeuProLeuLeuAlaThrAlaSerGlyGlnArgValPheProGluProThrGluSerGlyAspGluGlyGluGluLeuGlyLeuProLeuLeuSerThrArgHisValHisLeuGluCysArgLeuGlnLeuTrpTrpCysGlyGlyAlaProAspSerSerIleProAspAspHisGlnGlyGluLysGlyGlnGlyGlyThrGluGlyGlyValGlyGluLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035431" }, { "coordinates": [ { "allele": "A", "end": 7, "referenceAllele": "G", "start": 6 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "XM_011523952.1:c.-195G>A" ], "proteinEffect": { "hgvs": "XP_011522254.1:n.-195G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS091084" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "XM_011523952.2:c.-195G>A" ], "proteinEffect": { "hgvs": "XP_011522254.1:n.-195G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS547251" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "XM_024450824.1:c.-1638G>A" ], "proteinEffect": { "hgvs": "XP_024306592.1:n.-1638G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS584354" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "XM_024450825.1:c.438G>A" ], "proteinEffect": { "hgvs": "XP_024306593.1:p.Trp146Ter", "hgvsWellDefined": "XP_024306593.1:p.Trp146_Ser287delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrThrGlyValSerValSerMetSerLeuSerAlaTrpProAlaAlaAlaGlyArgThrArgPheIleSerGlyThrHisSerLeuGluSerSerGlyLeuProPheAlaProThrThrThrTrpMetSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584355" }, { "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "XR_001752551.2:n.683G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599236" }, { "@id": "http://reg.genome.network/allele/PA2825861594", "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "NM_001143991.2:c.438G>A" ], "proteinEffect": { "hgvs": "NP_001137463.1:p.Trp146Ter", "hgvsWellDefined": "NP_001137463.1:p.Trp146_Ile548delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrValAlaSerSerSerArgGluAsnProIleHisIleTrpAspAlaPheThrGlyGluLeuArgAlaSerPheArgAlaTyrAsnHisLeuAspGluLeuThrAlaAlaHisSerLeuCysPheSerProAspGlySerGlnLeuPheCysGlyPheAsnArgThrValArgValPheSerThrAlaArgProGlyArgAspCysGluValArgAlaThrPheAlaLysLysGlnGlyGlnSerGlyIleIleSerCysIleAlaPheSerProAlaGlnProLeuTyrAlaCysGlySerTyrGlyArgSerLeuGlyLeuTyrAlaTrpAspAspGlySerProLeuAlaLeuLeuGlyGlyHisGlnGlyGlyIleThrHisLeuCysPheHisProAspGlyAsnArgPhePheSerGlyAlaArgLysAspAlaGluLeuLeuCysTrpAspLeuArgGlnSerGlyTyrProLeuTrpSerLeuGlyArgGluValThrThrAsnGlnArgIleTyrPheAspLeuAspProThrGlyGlnPheLeuValSerGlySerThrSerGlyAlaValSerValTrpAspThrAspGlyProGlyAsnAspGlyLysProGluProValLeuSerPheLeuProGlnLysAspCysThrAsnGlyValSerLeuHisProSerLeuProLeuLeuAlaThrAlaSerGlyGlnArgValPheProGluProThrGluSerGlyAspGluGlyGluGluLeuGlyLeuProLeuLeuSerThrArgHisValHisLeuGluCysArgLeuGlnLeuTrpTrpCysGlyGlyAlaProAspSerSerIleProAspAspHisGlnGlyGluLysGlyGlnGlyGlyThrGluGlyGlyValGlyGluLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677691" }, { "@id": "http://reg.genome.network/allele/PA2825861922", "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "NM_001143992.2:c.438G>A" ], "proteinEffect": { "hgvs": "NP_001137464.1:p.Trp146Ter", "hgvsWellDefined": "NP_001137464.1:p.Trp146_Ile548delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrValAlaSerSerSerArgGluAsnProIleHisIleTrpAspAlaPheThrGlyGluLeuArgAlaSerPheArgAlaTyrAsnHisLeuAspGluLeuThrAlaAlaHisSerLeuCysPheSerProAspGlySerGlnLeuPheCysGlyPheAsnArgThrValArgValPheSerThrAlaArgProGlyArgAspCysGluValArgAlaThrPheAlaLysLysGlnGlyGlnSerGlyIleIleSerCysIleAlaPheSerProAlaGlnProLeuTyrAlaCysGlySerTyrGlyArgSerLeuGlyLeuTyrAlaTrpAspAspGlySerProLeuAlaLeuLeuGlyGlyHisGlnGlyGlyIleThrHisLeuCysPheHisProAspGlyAsnArgPhePheSerGlyAlaArgLysAspAlaGluLeuLeuCysTrpAspLeuArgGlnSerGlyTyrProLeuTrpSerLeuGlyArgGluValThrThrAsnGlnArgIleTyrPheAspLeuAspProThrGlyGlnPheLeuValSerGlySerThrSerGlyAlaValSerValTrpAspThrAspGlyProGlyAsnAspGlyLysProGluProValLeuSerPheLeuProGlnLysAspCysThrAsnGlyValSerLeuHisProSerLeuProLeuLeuAlaThrAlaSerGlyGlnArgValPheProGluProThrGluSerGlyAspGluGlyGluGluLeuGlyLeuProLeuLeuSerThrArgHisValHisLeuGluCysArgLeuGlnLeuTrpTrpCysGlyGlyAlaProAspSerSerIleProAspAspHisGlnGlyGluLysGlyGlnGlyGlyThrGluGlyGlyValGlyGluLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677692", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396463.7:c.438G>A" }, "RefSeq": { "hgvs": "NM_001143992.2:c.438G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379727.3:p.Trp146Ter" }, "RefSeq": { "hgvs": "NP_001137464.1:p.Trp146Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825861270", "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN025522", "geneNCBI_id": 55135, "geneSymbol": "WRAP53", "hgvs": [ "NM_001143990.2:c.438G>A" ], "proteinEffect": { "hgvs": "NP_001137462.1:p.Trp146Ter", "hgvsWellDefined": "NP_001137462.1:p.Trp146_Ile548delinsAsnTyrSerPheSerGlnLeuProArgPheLeuSerGlySerTrpSerGluPheSerThrGlnProGluAsnPheLeuLysGlyCysLysTrpAlaProAspGlySerCysIleLeuThrAsnSerAlaAspAsnIleLeuArgIleTyrAsnLeuProProGluLeuTyrHisGluGlyGluGlnValGluTyrAlaGluMetValProValLeuArgMetValGluGlyAspThrIleTyrAspTyrCysTrpTyrSerLeuMetSerSerAlaGlnProAspThrSerTyrValAlaSerSerSerArgGluAsnProIleHisIleTrpAspAlaPheThrGlyGluLeuArgAlaSerPheArgAlaTyrAsnHisLeuAspGluLeuThrAlaAlaHisSerLeuCysPheSerProAspGlySerGlnLeuPheCysGlyPheAsnArgThrValArgValPheSerThrAlaArgProGlyArgAspCysGluValArgAlaThrPheAlaLysLysGlnGlyGlnSerGlyIleIleSerCysIleAlaPheSerProAlaGlnProLeuTyrAlaCysGlySerTyrGlyArgSerLeuGlyLeuTyrAlaTrpAspAspGlySerProLeuAlaLeuLeuGlyGlyHisGlnGlyGlyIleThrHisLeuCysPheHisProAspGlyAsnArgPhePheSerGlyAlaArgLysAspAlaGluLeuLeuCysTrpAspLeuArgGlnSerGlyTyrProLeuTrpSerLeuGlyArgGluValThrThrAsnGlnArgIleTyrPheAspLeuAspProThrGlyGlnPheLeuValSerGlySerThrSerGlyAlaValSerValTrpAspThrAspGlyProGlyAsnAspGlyLysProGluProValLeuSerPheLeuProGlnLysAspCysThrAsnGlyValSerLeuHisProSerLeuProLeuLeuAlaThrAlaSerGlyGlnArgValPheProGluProThrGluSerGlyAspGluGlyGluGluLeuGlyLeuProLeuLeuSerThrArgHisValHisLeuGluCysArgLeuGlnLeuTrpTrpCysGlyGlyAlaProAspSerSerIleProAspAspHisGlnGlyGluLysGlyGlnGlyGlyThrGluGlyGlyValGlyGluLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712687" } ], "type": "nucleotide" }