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"C", "start": 17114 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.2:c.15832C>T" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Arg5278Ter", "hgvsWellDefined": "XP_011537076.1:p.Arg5278_Asn5549delinsLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553416" }, { "coordinates": [ { "allele": "T", "end": 17042, "referenceAllele": "C", "start": 17041 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.2:c.15760C>T" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Arg5254Ter", "hgvsWellDefined": "XP_011537078.1:p.Arg5254_Asn5525delinsLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553417" }, { "coordinates": [ { "allele": "T", "end": 16021, "referenceAllele": "C", "start": 16020 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_001748874.1:n.16021C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596813" }, { "@id": "http://reg.genome.network/allele/PA271607", "coordinates": [ { "allele": "T", "end": 17063, "referenceAllele": "C", "start": 17062 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.4:c.15844C>T" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Arg5282Ter", "hgvsWellDefined": "NP_003473.3:p.Arg5282_Asn5537delinsLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695846", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.15844C>T" }, "RefSeq": { "hgvs": "NM_003482.4:c.15844C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Arg5282Ter" }, "RefSeq": { "hgvs": "NP_003473.3:p.Arg5282Ter" } } } } ], "type": "nucleotide" }