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"XP_011518673.1:p.Gln140_Ala323delinsArgLysIleLeuAlaAlaGlnGlyGlnLeuSerAlaGlnGlyGlyAlaGlnProSerValGluAlaProAlaAlaProArgProThrAlaThrGlnLeuThrArgAspLeuLeuArgSerArgGlyIleAlaGlyLeuTyrLysGlyLeuGlyAlaThrLeuLeuArgAspValProPheSerValValTyrPheProLeuPheAlaAsnLeuAsnGlnLeuGlyArgProAlaSerGluGluLysSerProPheTyrValSerPheLeuAlaGlyCysValAlaGlySerAlaAlaAlaValAlaValAsnProCysAspValValLysThrArgLeuGlnSerLeuGlnArgGlyValAsnGluAspThrTyrSerGlyIleLeuAspCysAlaArgLysIleLeuArgHisGluGlyProSerAlaPheLeuLysGlyAlaTyrCysArgAlaLeuValIleAlaProLeuPheGlyIleAlaGlnValValTyrPheLeuGlyIleAlaGluSerLeuLeuGlyLeuLeuGlnAspProGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545692" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN019954", "geneNCBI_id": 79751, "geneSymbol": "SLC25A22", "hgvs": [ "XM_024448687.1:c.418C>T" ], "proteinEffect": { "hgvs": "XP_024304455.1:p.Gln140Ter", "hgvsWellDefined": "XP_024304455.1:p.Gln140_Ala323delinsArgLysIleLeuAlaAlaGlnGlyGlnLeuSerAlaGlnGlyGlyAlaGlnProSerValGluAlaProAlaAlaProArgProThrAlaThrGlnLeuThrArgAspLeuLeuArgSerArgGlyIleAlaGlyLeuTyrLysGlyLeuGlyAlaThrLeuLeuArgAspValProPheSerValValTyrPheProLeuPheAlaAsnLeuAsnGlnLeuGlyArgProAlaSerGluGluLysSerProPheTyrValSerPheLeuAlaGlyCysValAlaGlySerAlaAlaAlaValAlaValAsnProCysAspValValLysThrArgLeuGlnSerLeuGlnArgGlyValAsnGluAspThrTyrSerGlyIleLeuAspCysAlaArgLysIleLeuArgHisGluGlyProSerAlaPheLeuLysGlyAlaTyrCysArgAlaLeuValIleAlaProLeuPheGlyIleAlaGlnValValTyrPheLeuGlyIleAlaGluSerLeuLeuGlyLeuLeuGlnAspProGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582255" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN019954", "geneNCBI_id": 79751, "geneSymbol": "SLC25A22", "hgvs": [ "XM_024448688.1:c.418C>T" ], "proteinEffect": { "hgvs": "XP_024304456.1:p.Gln140Ter", "hgvsWellDefined": "XP_024304456.1:p.Gln140_Ala323delinsArgLysIleLeuAlaAlaGlnGlyGlnLeuSerAlaGlnGlyGlyAlaGlnProSerValGluAlaProAlaAlaProArgProThrAlaThrGlnLeuThrArgAspLeuLeuArgSerArgGlyIleAlaGlyLeuTyrLysGlyLeuGlyAlaThrLeuLeuArgAspValProPheSerValValTyrPheProLeuPheAlaAsnLeuAsnGlnLeuGlyArgProAlaSerGluGluLysSerProPheTyrValSerPheLeuAlaGlyCysValAlaGlySerAlaAlaAlaValAlaValAsnProCysAspValValLysThrArgLeuGlnSerLeuGlnArgGlyValAsnGluAspThrTyrSerGlyIleLeuAspCysAlaArgLysIleLeuArgHisGluGlyProSerAlaPheLeuLysGlyAlaTyrCysArgAlaLeuValIleAlaProLeuPheGlyIleAlaGlnValValTyrPheLeuGlyIleAlaGluSerLeuLeuGlyLeuLeuGlnAspProGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582256" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN019954", "geneNCBI_id": 79751, "geneSymbol": "SLC25A22", "hgvs": [ "XM_024448689.1:c.418C>T" ], "proteinEffect": { "hgvs": "XP_024304457.1:p.Gln140Ter", "hgvsWellDefined": "XP_024304457.1:p.Gln140_Ala323delinsArgLysIleLeuAlaAlaGlnGlyGlnLeuSerAlaGlnGlyGlyAlaGlnProSerValGluAlaProAlaAlaProArgProThrAlaThrGlnLeuThrArgAspLeuLeuArgSerArgGlyIleAlaGlyLeuTyrLysGlyLeuGlyAlaThrLeuLeuArgAspValProPheSerValValTyrPheProLeuPheAlaAsnLeuAsnGlnLeuGlyArgProAlaSerGluGluLysSerProPheTyrValSerPheLeuAlaGlyCysValAlaGlySerAlaAlaAlaValAlaValAsnProCysAspValValLysThrArgLeuGlnSerLeuGlnArgGlyValAsnGluAspThrTyrSerGlyIleLeuAspCysAlaArgLysIleLeuArgHisGluGlyProSerAlaPheLeuLysGlyAlaTyrCysArgAlaLeuValIleAlaProLeuPheGlyIleAlaGlnValValTyrPheLeuGlyIleAlaGluSerLeuLeuGlyLeuLeuGlnAspProGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582257" }, { "@id": "http://reg.genome.network/allele/PA208269", "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN019954", "geneNCBI_id": 79751, "geneSymbol": "SLC25A22", "hgvs": [ "NM_001191061.2:c.418C>T" ], "proteinEffect": { "hgvs": "NP_001177990.1:p.Gln140Ter", "hgvsWellDefined": "NP_001177990.1:p.Gln140_Ala323delinsArgLysIleLeuAlaAlaGlnGlyGlnLeuSerAlaGlnGlyGlyAlaGlnProSerValGluAlaProAlaAlaProArgProThrAlaThrGlnLeuThrArgAspLeuLeuArgSerArgGlyIleAlaGlyLeuTyrLysGlyLeuGlyAlaThrLeuLeuArgAspValProPheSerValValTyrPheProLeuPheAlaAsnLeuAsnGlnLeuGlyArgProAlaSerGluGluLysSerProPheTyrValSerPheLeuAlaGlyCysValAlaGlySerAlaAlaAlaValAlaValAsnProCysAspValValLysThrArgLeuGlnSerLeuGlnArgGlyValAsnGluAspThrTyrSerGlyIleLeuAspCysAlaArgLysIleLeuArgHisGluGlyProSerAlaPheLeuLysGlyAlaTyrCysArgAlaLeuValIleAlaProLeuPheGlyIleAlaGlnValValTyrPheLeuGlyIleAlaGluSerLeuLeuGlyLeuLeuGlnAspProGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663946", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000628067.3:c.418C>T" }, "RefSeq": { "hgvs": "NM_001191061.2:c.418C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000486058.1:p.Gln140Ter" }, "RefSeq": { "hgvs": "NP_001177990.1:p.Gln140Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA208270", "coordinates": [ { "allele": "T", "end": 777, "referenceAllele": "C", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN019954", "geneNCBI_id": 79751, "geneSymbol": "SLC25A22", "hgvs": [ "NM_024698.6:c.418C>T" ], "proteinEffect": { "hgvs": "NP_078974.1:p.Gln140Ter", "hgvsWellDefined": "NP_078974.1:p.Gln140_Ala323delinsArgLysIleLeuAlaAlaGlnGlyGlnLeuSerAlaGlnGlyGlyAlaGlnProSerValGluAlaProAlaAlaProArgProThrAlaThrGlnLeuThrArgAspLeuLeuArgSerArgGlyIleAlaGlyLeuTyrLysGlyLeuGlyAlaThrLeuLeuArgAspValProPheSerValValTyrPheProLeuPheAlaAsnLeuAsnGlnLeuGlyArgProAlaSerGluGluLysSerProPheTyrValSerPheLeuAlaGlyCysValAlaGlySerAlaAlaAlaValAlaValAsnProCysAspValValLysThrArgLeuGlnSerLeuGlnArgGlyValAsnGluAspThrTyrSerGlyIleLeuAspCysAlaArgLysIleLeuArgHisGluGlyProSerAlaPheLeuLysGlyAlaTyrCysArgAlaLeuValIleAlaProLeuPheGlyIleAlaGlnValValTyrPheLeuGlyIleAlaGluSerLeuLeuGlyLeuLeuGlnAspProGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698742" }, { "@id": "http://reg.genome.network/allele/PA2826171363", "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN019954", "geneNCBI_id": 79751, "geneSymbol": "SLC25A22", "hgvs": [ "NM_001191060.2:c.418C>T" ], "proteinEffect": { "hgvs": "NP_001177989.1:p.Gln140Ter", "hgvsWellDefined": "NP_001177989.1:p.Gln140_Ala323delinsArgLysIleLeuAlaAlaGlnGlyGlnLeuSerAlaGlnGlyGlyAlaGlnProSerValGluAlaProAlaAlaProArgProThrAlaThrGlnLeuThrArgAspLeuLeuArgSerArgGlyIleAlaGlyLeuTyrLysGlyLeuGlyAlaThrLeuLeuArgAspValProPheSerValValTyrPheProLeuPheAlaAsnLeuAsnGlnLeuGlyArgProAlaSerGluGluLysSerProPheTyrValSerPheLeuAlaGlyCysValAlaGlySerAlaAlaAlaValAlaValAsnProCysAspValValLysThrArgLeuGlnSerLeuGlnArgGlyValAsnGluAspThrTyrSerGlyIleLeuAspCysAlaArgLysIleLeuArgHisGluGlyProSerAlaPheLeuLysGlyAlaTyrCysArgAlaLeuValIleAlaProLeuPheGlyIleAlaGlnValValTyrPheLeuGlyIleAlaGluSerLeuLeuGlyLeuLeuGlnAspProGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713717" } ], "type": "nucleotide" }