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"http://reg.genome.network/refseq/RS757358" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "ENST00000482235.2:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000430776.2:p.Arg88Ter", "hgvsWellDefined": "ENSP00000430776.2:p.Arg88_Leu347delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysAspGlyLeuTrpPheTyrIleGlnSerLeuGluThrValLysAspHisArgAsnIleArgValArgAsnSerAspLeuLysTyrCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757406" }, { "coordinates": [ { "allele": "T", "end": 105, "referenceAllele": "C", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "ENST00000679548.1:c.105C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779177" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "ENST00000681568.1:n.405C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781174" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "ENST00000681816.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000505171.1:p.Arg88Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "ENST00000303714.8:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000301945.4:p.Arg88Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255350" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "C", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "ENST00000409349.7:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000386494.3:p.Arg88Ter", "hgvsWellDefined": "ENSP00000386494.3:p.Arg88_Lys368delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysSerAspGlySerIleLeuAlaIleAlaLeuLeuIleLeuPheLeuLeuLeuAlaLeuAlaLeuLeuTrpTrpPheTrpProLeuCysCysThrValIleIleLysGluValProProProProAlaGluGluSerGluGluAsnLysIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281471" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "C", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "ENST00000409829.7:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000387058.3:p.Arg88Ter", "hgvsWellDefined": "ENSP00000387058.3:p.Arg88_Glu333delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysSerLeuHisLysIleAlaSerGlyProThrThrAlaAlaCysMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281885" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "ENST00000463335.1:n.405C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307393" }, { "@id": "http://reg.genome.network/allele/PA143845", "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "NM_018153.3:c.262C>T" ], "proteinEffect": { "hgvs": "NP_060623.2:p.Arg88Ter", "hgvsWellDefined": "NP_060623.2:p.Arg88_Glu333delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysSerLeuHisLysIleAlaSerGlyProThrThrAlaAlaCysMetGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035497" }, { "@id": "http://reg.genome.network/allele/PA143846", "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "NM_032208.2:c.262C>T" ], "proteinEffect": { "hgvs": "NP_115584.1:p.Arg88Ter", "hgvsWellDefined": "NP_115584.1:p.Arg88_Val564delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysSerAspGlySerIleLeuAlaIleAlaLeuLeuIleLeuPheLeuLeuLeuAlaLeuAlaLeuLeuTrpTrpPheTrpProLeuCysCysThrValIleIleLysGluValProProProProAlaGluGluSerGluGluGluAspAspAspGlyLeuProLysLysLysTrpProThrValAspAlaSerTyrTyrGlyGlyArgGlyValGlyGlyIleLysArgMetGluValArgTrpGlyGluLysGlySerThrGluGluGlyAlaLysLeuGluLysAlaLysAsnAlaArgValLysMetProGluGlnGluTyrGluPheProGluProArgAsnLeuAsnAsnAsnMetArgArgProSerSerProArgLysTrpTyrSerProIleLysGlyLysLeuAspAlaLeuTrpValLeuLeuArgLysGlyTyrAspArgValSerValMetArgProGlnProGlyAspThrGlyArgCysIleAsnPheThrArgValLysAsnAsnGlnProAlaLysTyrProLeuAsnAsnAlaTyrHisThrSerSerProProProAlaProIleTyrThrProProProProAlaProHisCysProProProProProSerAlaProThrProProIleProSerProProSerThrLeuProProProProGlnAlaProProProAsnArgAlaProProProSerArgProProProArgProSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038914" }, { "@id": "http://reg.genome.network/allele/PA916052608", "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "NM_053034.2:c.262C>T" ], "proteinEffect": { "hgvs": "NP_444262.1:p.Arg88Ter", "hgvsWellDefined": "NP_444262.1:p.Arg88_Lys368delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysSerAspGlySerIleLeuAlaIleAlaLeuLeuIleLeuPheLeuLeuLeuAlaLeuAlaLeuLeuTrpTrpPheTrpProLeuCysCysThrValIleIleLysGluValProProProProAlaGluGluSerGluGluAsnLysIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039983" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "XM_011533124.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011531426.1:p.Arg88Ter", "hgvsWellDefined": "XP_011531426.1:p.Arg88_Pro568delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysSerAspGlySerIleLeuAlaIleAlaLeuLeuIleLeuPheLeuLeuLeuAlaLeuAlaLeuLeuTrpTrpPheTrpProLeuCysCysThrValIleIleLysGluValProProProProAlaGluGluSerGluGluGluAspAspAspGlyLeuProLysLysLysTrpProThrValAspAlaSerTyrTyrGlyGlyArgGlyValGlyGlyIleLysArgMetGluValArgTrpGlyGluLysGlySerThrGluGluGlyAlaLysLeuGluLysAlaLysAsnAlaArgValLysMetProGluGlnGluTyrGluPheProGluProArgAsnLeuAsnAsnAsnMetArgArgProSerSerProArgLysTrpTyrSerProIleLysGlyLysLeuAspAlaLeuTrpValLeuLeuArgLysGlyTyrAspArgValSerValMetArgProGlnProGlyAspThrAlaLeuAlaValTyrGlyLysAspProLeuProCysArgAlaArgIleSerTrpArgArgAsnTyrGluArgMetSerValSerPheGlnSerProGlyLeuTrpIleCysTyrProGlnValLysProArgProTyrTrpThrGlyProArgLeuIleProGlyGlySerTyrPheSerGluGlyHisThrGlyTyrLeuMetAspArgPhePheArgValSerSerAsnProGlnArgSerGluAspLysGlyPheLeuSerSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100149" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "XR_939725.1:n.409C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134421" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "XR_939726.1:n.409C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS134422" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "XM_017005075.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016860564.1:p.Arg88Ter", "hgvsWellDefined": "XP_016860564.1:p.Arg88_Leu347delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysAspGlyLeuTrpPheTyrIleGlnSerLeuGluThrValLysAspHisArgAsnIleArgValArgAsnSerAspLeuLysTyrCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560433" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "XM_017005076.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016860565.1:p.Arg88Ter", "hgvsWellDefined": "XP_016860565.1:p.Arg88_Ser336delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysAspValArgSerThrProLeuIleLeuAsnThrGlnAspValAlaValArgProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560434" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "XM_017005077.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016860566.1:p.Arg88Ter", "hgvsWellDefined": "XP_016860566.1:p.Arg88_Pro330delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysGlyLeuSerLeuGluGlnSerGluValAspIleValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560435" }, { "@id": "http://reg.genome.network/allele/PA143846", "coordinates": [ { "allele": "T", "end": 583, "referenceAllele": "C", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "NM_032208.3:c.262C>T" ], "proteinEffect": { "hgvs": "NP_115584.1:p.Arg88Ter", "hgvsWellDefined": "NP_115584.1:p.Arg88_Val564delinsGlyThrThrLeuMetLysLeuThrGluAspArgGluGlnIleArgGlnGlyLeuGluGluLeuGlnLysValLeuProGlyGlyAspThrTyrMetHisGluGlyPheGluArgAlaSerGluGlnIleTyrTyrGluAsnArgGlnGlyTyrArgThrAlaSerValIleIleAlaLeuThrAspGlyGluLeuHisGluAspLeuPhePheTyrSerGluArgGluAlaAsnArgSerArgAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysSerAspGlySerIleLeuAlaIleAlaLeuLeuIleLeuPheLeuLeuLeuAlaLeuAlaLeuLeuTrpTrpPheTrpProLeuCysCysThrValIleIleLysGluValProProProProAlaGluGluSerGluGluGluAspAspAspGlyLeuProLysLysLysTrpProThrValAspAlaSerTyrTyrGlyGlyArgGlyValGlyGlyIleLysArgMetGluValArgTrpGlyGluLysGlySerThrGluGluGlyAlaLysLeuGluLysAlaLysAsnAlaArgValLysMetProGluGlnGluTyrGluPheProGluProArgAsnLeuAsnAsnAsnMetArgArgProSerSerProArgLysTrpTyrSerProIleLysGlyLysLeuAspAlaLeuTrpValLeuLeuArgLysGlyTyrAspArgValSerValMetArgProGlnProGlyAspThrGlyArgCysIleAsnPheThrArgValLysAsnAsnGlnProAlaLysTyrProLeuAsnAsnAlaTyrHisThrSerSerProProProAlaProIleTyrThrProProProProAlaProHisCysProProProProProSerAlaProThrProProIleProSerProProSerThrLeuProProProProGlnAlaProProProAsnArgAlaProProProSerArgProProProArgProSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303714.9:c.262C>T" }, "RefSeq": { "hgvs": "NM_032208.3:c.262C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301945.4:p.Arg88Ter" }, "RefSeq": { "hgvs": "NP_115584.1:p.Arg88Ter" } } } } ], "type": "nucleotide" }