{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16620687", "communityStandardTitle": [ "NM_030632.3(ASXL3):c.4360C>T (p.Gln1454Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410364[alleleid]", "alleleId": 410364, "preferredName": "NM_030632.3(ASXL3):c.4360C>T (p.Gln1454Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424448", "RCV": [ "RCV000486621" ], "variationId": 424448 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.31324172C>T?assembly=hg19", "id": "chr18:g.31324172C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.33744208C>T?assembly=hg38", "id": "chr18:g.33744208C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796972", "rs": 1064796972 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 33744208, "referenceAllele": "C", "start": 33744207 } ], "hgvs": [ "NC_000018.10:g.33744208C>T", "CM000680.2:g.33744208C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 31324172, "referenceAllele": "C", "start": 31324171 } ], "hgvs": [ "NC_000018.9:g.31324172C>T", "CM000680.1:g.31324172C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 29578170, "referenceAllele": "C", "start": 29578169 } ], "hgvs": [ "NC_000018.8:g.29578170C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "T", "end": 170632, "referenceAllele": "C", "start": 170631 } ], "hgvs": [ "NG_055244.1:g.170632C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617580" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4776, "referenceAllele": "C", "start": 4775 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "ENST00000696964.1:c.4363C>T" ], "proteinEffect": { "hgvs": "ENSP00000513003.1:p.Gln1455Ter", "hgvsWellDefined": "ENSP00000513003.1:p.Gln1456_Arg2249delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908396" }, { "coordinates": [ { "allele": "T", "end": 4773, "referenceAllele": "C", "start": 4772 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "ENST00000269197.12:c.4360C>T" ], "proteinEffect": { "hgvs": "ENSP00000269197.4:p.Gln1454Ter", "hgvsWellDefined": "ENSP00000269197.4:p.Gln1455_Arg2248delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269197.12:c.4360C>T" }, "RefSeq": { "hgvs": "NM_030632.3:c.4360C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269197.4:p.Gln1454Ter" }, "RefSeq": { "hgvs": "NP_085135.1:p.Gln1454Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4653, "referenceAllele": "C", "start": 4652 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "ENST00000681521.1:c.4240C>T" ], "proteinEffect": { "hgvs": "ENSP00000506037.1:p.Gln1414Ter", "hgvsWellDefined": "ENSP00000506037.1:p.Gln1415_Arg2208delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781127" }, { "coordinates": [ { "allele": "T", "end": 4360, "referenceAllele": "C", "start": 4359 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "ENST00000269197.9:c.4360C>T" ], "proteinEffect": { "hgvs": "ENSP00000269197.4:p.Gln1454Ter", "hgvsWellDefined": "ENSP00000269197.4:p.Gln1455_Arg2248delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252144" }, { "@id": "http://reg.genome.network/allele/PA645492317", "coordinates": [ { "allele": "T", "end": 4415, "referenceAllele": "C", "start": 4414 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "NM_030632.1:c.4360C>T" ], "proteinEffect": { "hgvs": "NP_085135.1:p.Gln1454Ter", "hgvsWellDefined": "NP_085135.1:p.Gln1455_Arg2248delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038355" }, { "coordinates": [ { "allele": "T", "end": 4388, "referenceAllele": "C", "start": 4387 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_005258356.1:c.4363C>T" ], "proteinEffect": { "hgvs": "XP_005258413.1:p.Gln1455Ter", "hgvsWellDefined": "XP_005258413.1:p.Gln1456_Arg2249delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062040" }, { "coordinates": [ { "allele": "T", "end": 4525, "referenceAllele": "C", "start": 4524 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526205.1:c.4336C>T" ], "proteinEffect": { "hgvs": "XP_011524507.1:p.Gln1446Ter", "hgvsWellDefined": "XP_011524507.1:p.Gln1447_Arg2240delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093312" }, { "coordinates": [ { "allele": "T", "end": 4413, "referenceAllele": "C", "start": 4412 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526206.1:c.4282C>T" ], "proteinEffect": { "hgvs": "XP_011524508.1:p.Gln1428Ter", "hgvsWellDefined": "XP_011524508.1:p.Gln1429_Arg2222delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093313" }, { "coordinates": [ { "allele": "T", "end": 4435, "referenceAllele": "C", "start": 4434 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526207.1:c.4282C>T" ], "proteinEffect": { "hgvs": "XP_011524509.1:p.Gln1428Ter", "hgvsWellDefined": "XP_011524509.1:p.Gln1429_Arg2222delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093314" }, { "coordinates": [ { "allele": "T", "end": 4268, "referenceAllele": "C", "start": 4267 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526208.1:c.4243C>T" ], "proteinEffect": { "hgvs": "XP_011524510.1:p.Gln1415Ter", "hgvsWellDefined": "XP_011524510.1:p.Gln1416_Arg2209delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093315" }, { "coordinates": [ { "allele": "T", "end": 4572, "referenceAllele": "C", "start": 4571 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526209.1:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_011524511.1:p.Gln1398Ter", "hgvsWellDefined": "XP_011524511.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093316" }, { "coordinates": [ { "allele": "T", "end": 4629, "referenceAllele": "C", "start": 4628 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526210.1:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_011524512.1:p.Gln1398Ter", "hgvsWellDefined": "XP_011524512.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093317" }, { "coordinates": [ { "allele": "T", "end": 4439, "referenceAllele": "C", "start": 4438 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526211.1:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_011524513.1:p.Gln1398Ter", "hgvsWellDefined": "XP_011524513.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093318" }, { "coordinates": [ { "allele": "T", "end": 4533, "referenceAllele": "C", "start": 4532 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526212.1:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_011524514.1:p.Gln1398Ter", "hgvsWellDefined": "XP_011524514.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093319" }, { "coordinates": [ { "allele": "T", "end": 4626, "referenceAllele": "C", "start": 4625 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526213.1:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_011524515.1:p.Gln1398Ter", "hgvsWellDefined": "XP_011524515.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093320" }, { "coordinates": [ { "allele": "T", "end": 4272, "referenceAllele": "C", "start": 4271 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526214.1:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_011524516.1:p.Gln1398Ter", "hgvsWellDefined": "XP_011524516.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093321" }, { "coordinates": [ { "allele": "T", "end": 1397, "referenceAllele": "C", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526215.1:c.1324C>T" ], "proteinEffect": { "hgvs": "XP_011524517.1:p.Gln442Ter", "hgvsWellDefined": "XP_011524517.1:p.Gln443_Arg1236delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093322" }, { "@id": "http://reg.genome.network/allele/PA645492317", "coordinates": [ { "allele": "T", "end": 4415, "referenceAllele": "C", "start": 4414 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "NM_030632.2:c.4360C>T" ], "proteinEffect": { "hgvs": "NP_085135.1:p.Gln1454Ter", "hgvsWellDefined": "NP_085135.1:p.Gln1455_Arg2248delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526237" }, { "coordinates": [ { "allele": "T", "end": 11178, "referenceAllele": "C", "start": 11177 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526205.2:c.4336C>T" ], "proteinEffect": { "hgvs": "XP_011524507.1:p.Gln1446Ter", "hgvsWellDefined": "XP_011524507.1:p.Gln1447_Arg2240delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548167" }, { "coordinates": [ { "allele": "T", "end": 7943, "referenceAllele": "C", "start": 7942 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526206.2:c.4282C>T" ], "proteinEffect": { "hgvs": "XP_011524508.1:p.Gln1428Ter", "hgvsWellDefined": "XP_011524508.1:p.Gln1429_Arg2222delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548168" }, { "coordinates": [ { "allele": "T", "end": 4555, "referenceAllele": "C", "start": 4554 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_011526213.2:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_011524515.1:p.Gln1398Ter", "hgvsWellDefined": "XP_011524515.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548169" }, { "coordinates": [ { "allele": "T", "end": 7790, "referenceAllele": "C", "start": 7789 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_017026012.1:c.4282C>T" ], "proteinEffect": { "hgvs": "XP_016881501.1:p.Gln1428Ter", "hgvsWellDefined": "XP_016881501.1:p.Gln1429_Arg2222delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576238" }, { "coordinates": [ { "allele": "T", "end": 8152, "referenceAllele": "C", "start": 8151 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_017026013.1:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_016881502.1:p.Gln1398Ter", "hgvsWellDefined": "XP_016881502.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576239" }, { "coordinates": [ { "allele": "T", "end": 7999, "referenceAllele": "C", "start": 7998 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_017026014.2:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_016881503.1:p.Gln1398Ter", "hgvsWellDefined": "XP_016881503.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576240" }, { "coordinates": [ { "allele": "T", "end": 4494, "referenceAllele": "C", "start": 4493 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "XM_024451269.1:c.4192C>T" ], "proteinEffect": { "hgvs": "XP_024307037.1:p.Gln1398Ter", "hgvsWellDefined": "XP_024307037.1:p.Gln1399_Arg2192delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584788" }, { "@id": "http://reg.genome.network/allele/PA645492317", "coordinates": [ { "allele": "T", "end": 4773, "referenceAllele": "C", "start": 4772 } ], "gene": "http://reg.genome.network/gene/GN029357", "geneNCBI_id": 80816, "geneSymbol": "ASXL3", "hgvs": [ "NM_030632.3:c.4360C>T" ], "proteinEffect": { "hgvs": "NP_085135.1:p.Gln1454Ter", "hgvsWellDefined": "NP_085135.1:p.Gln1455_Arg2248delinsProProGlyGlyPheAlaProAlaAlaIleAsnArgSerIleProCysLysValIleValAspHisSerThrThrLeuThrSerSerLeuSerLeuThrValSerValGluSerSerGluAlaSerLeuAspLeuGlnGlyArgProValArgThrGluAlaSerValGlnProValAlaCysProGlnValSerValIleSerArgProGluProValAlaAsnGluGlyIleAspHisSerSerThrPheIleAlaAlaSerAlaAlaLysGlnAspSerLysThrLeuProAlaThrCysThrSerLeuArgGluLeuProLeuValProAspLysLeuAsnGluProThrAlaProSerHisAsnPheAlaGluGlnAlaArgGlyProAlaProPheLysSerGluAlaAspThrThrCysSerAsnGlnTyrAsnProSerAsnArgIleCysTrpAsnAspAspGlyMetArgSerThrGlyGlnProLeuValThrHisSerGlySerSerLysGlnLysGluTyrLeuGluGlnSerCysProLysAlaIleLysThrGluHisAlaAsnTyrLeuAsnValSerGluLeuHisProArgAsnLeuValThrAsnValAlaLeuProValLysSerGluLeuHisGluAlaAspLysGlyPheArgMetAspThrGluAspPheProGlyProGluLeuProProProAlaAlaGluGlyAlaSerSerValGlnGlnThrGlnAsnMetLysAlaSerThrSerSerProMetGluGluAlaIleSerLeuAlaThrAspAlaLeuLysArgValProGlyAlaGlySerSerGlyCysArgLeuSerSerValGluAlaAsnAsnProLeuValThrGlnLeuLeuGlnGlyAsnLeuProLeuGluLysValLeuProGlnProArgLeuGlyAlaLysLeuGluIleAsnArgLeuProLeuProLeuGlnThrThrSerValGlyLysThrAlaProGluArgAsnValGluIleProProSerSerProAsnProAspGlyLysGlyTyrLeuAlaGlyThrLeuAlaProLeuGlnMetArgLysArgGluAsnHisProLysLysArgValAlaArgThrValGlyGluHisThrGlnValLysCysGluProGlyLysLeuLeuValGluProAspValLysGlyValProCysValIleSerSerGlyIleSerGlnLeuGlyHisSerGlnProPheLysGlnGluTrpLeuAsnLysHisSerMetGlnAsnArgIleValHisSerProGluValLysGlnGlnLysArgLeuLeuProSerCysSerPheGlnGlnAsnLeuPheHisValAspLysAsnGlyGlyPheHisThrAspAlaGlyThrSerHisArgGlnGlnPheTyrGlnMetProValAlaAlaArgGlyProIleProThrAlaAlaLeuLeuGlnAlaSerSerLysThrProValGlyCysAsnAlaPheAlaPheAsnArgHisLeuGluGlnLysGlyLeuGlyGluValSerLeuSerSerAlaProHisGlnLeuArgLeuAlaAsnMetLeuSerProAsnMetProMetLysGluGlyAspGluValGlyGlyThrAlaHisThrMetProAsnLysAlaLeuValHisProProProProProProProProProProProProLeuAlaLeuProProProProProProProProProLeuProProProLeuProAsnAlaGluValProSerAspGlnLysGlnProProValThrMetGluThrThrLysArgLeuSerTrpProGlnSerThrGlyIleCysSerAsnIleLysSerGluProLeuSerPheGluGluGlyLeuSerSerSerCysGluLeuGlyMetLysGlnValSerTyrAspGlnAsnGluMetLysGluGlnLeuLysAlaPheAlaLeuLysSerAlaAspPheSerSerTyrLeuLeuSerGluProGlnLysProPheThrGlnLeuAlaAlaGlnLysMetGlnValGlnGlnGlnGlnGlnLeuCysGlyAsnTyrProThrIleHisPheGlySerThrSerPheLysArgAlaAlaSerAlaIleGluLysSerIleGlyIleLeuGlySerGlySerAsnProAlaThrGlyLeuSerGlyGlnAsnAlaGlnMetProValGlnAsnPheAlaAspSerSerAsnAlaAspGluLeuGluLeuLysCysSerCysArgLeuLysAlaMetIleValCysLysGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValAlaCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670977", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269197.12:c.4360C>T" }, "RefSeq": { "hgvs": "NM_030632.3:c.4360C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269197.4:p.Gln1454Ter" }, "RefSeq": { "hgvs": "NP_085135.1:p.Gln1454Ter" } } } } ], "type": "nucleotide" }