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"XP_011514961.1:p.Gln643_Ser736delinsIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544253" }, { "coordinates": [ { "allele": "T", "end": 2030, "referenceAllele": "C", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_011516660.3:c.1927C>T" ], "proteinEffect": { "hgvs": "XP_011514962.1:p.Gln643Ter", "hgvsWellDefined": "XP_011514962.1:p.Gln643_Ser736delinsIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544254" }, { "coordinates": [ { "allele": "T", "end": 2666, "referenceAllele": "C", "start": 2665 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_017012758.2:c.1213C>T" ], "proteinEffect": { "hgvs": "XP_016868247.1:p.Gln405Ter", "hgvsWellDefined": "XP_016868247.1:p.Gln405_Ser498delinsIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566274" }, { "coordinates": [ { "allele": "T", "end": 2512, "referenceAllele": "C", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446982.1:c.1927C>T" ], "proteinEffect": { "hgvs": "XP_024302750.1:p.Gln643Ter", "hgvsWellDefined": 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"XP_024302751.1:p.Gln643_Ser736delinsIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580611" }, { "coordinates": [ { "allele": "T", "end": 3443, "referenceAllele": "C", "start": 3442 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "XM_024446984.1:c.1090C>T" ], "proteinEffect": { "hgvs": "XP_024302752.1:p.Gln364Ter", "hgvsWellDefined": "XP_024302752.1:p.Gln364_Ser457delinsIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580612" }, { "@id": "http://reg.genome.network/allele/PA2830425679", "coordinates": [ { "allele": "T", "end": 2472, "referenceAllele": "C", "start": 2471 } ], "gene": "http://reg.genome.network/gene/GN001573", "geneNCBI_id": 889, "geneSymbol": "KRIT1", "hgvs": [ "NM_194454.3:c.1927C>T" ], "proteinEffect": { "hgvs": "NP_919436.1:p.Gln643Ter", "hgvsWellDefined": "NP_919436.1:p.Gln643_Ser736delinsIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701223", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394505.7:c.1927C>T" }, "RefSeq": { "hgvs": "NM_194454.3:c.1927C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378013.2:p.Gln643Ter" }, "RefSeq": { "hgvs": "NP_919436.1:p.Gln643Ter" } } } } ], "type": "nucleotide" }