{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10588697", "communityStandardTitle": [ "NM_015338.6(ASXL1):c.2922C>A (p.Tyr974Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260227[alleleid]", "alleleId": 260227, "preferredName": "NM_015338.6(ASXL1):c.2922C>A (p.Tyr974Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265675", "RCV": [ "RCV000255194" ], "variationId": 265675 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.31023437C>A?assembly=hg19", "id": "chr20:g.31023437C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.32435634C>A?assembly=hg38", "id": "chr20:g.32435634C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886039722", "rs": 886039722 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 32435634, "referenceAllele": "C", "start": 32435633 } ], "hgvs": [ "NC_000020.11:g.32435634C>A", "CM000682.2:g.32435634C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 31023437, "referenceAllele": "C", "start": 31023436 } ], "hgvs": [ "NC_000020.10:g.31023437C>A", "CM000682.1:g.31023437C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 30487098, "referenceAllele": "C", "start": 30487097 } ], "hgvs": [ "NC_000020.9:g.30487098C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 82291, "referenceAllele": "C", "start": 82290 } ], "hgvs": [ "NG_027868.1:g.82291C>A", "LRG_630:g.82291C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003997" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3367, "referenceAllele": "C", "start": 3366 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.10:c.2922C>A" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Tyr974Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Tyr974_Arg1541delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2922C>A" }, "RefSeq": { "hgvs": "NM_015338.6:c.2922C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Tyr974Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Tyr974Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2982, "referenceAllele": "C", "start": 2981 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000646985.1:c.2739C>A" ], "proteinEffect": { "hgvs": "ENSP00000495053.1:p.Tyr913Ter", "hgvsWellDefined": "ENSP00000495053.1:p.Tyr913_Arg1480delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769174" }, { "coordinates": [ { "allele": "A", "end": 5275, "referenceAllele": "C", "start": 5274 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000647223.1:n.5275C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769293" }, { "coordinates": [ { "allele": "A", "end": 2315, "endIntronDirection": "+", "endIntronOffset": 1053, "referenceAllele": "C", "start": 2315, "startIntronDirection": "+", "startIntronOffset": 1052 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000651418.1:c.1869+1053C>A" ], "proteinEffect": { "hgvs": "ENSP00000499150.1:n.1869+1053C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771655" }, { "coordinates": [ { "allele": "A", "end": 2907, "referenceAllele": "C", "start": 2906 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000306058.9:c.2907C>A" ], "proteinEffect": { "hgvs": "ENSP00000305119.5:p.Tyr969Ter", "hgvsWellDefined": "ENSP00000305119.5:p.Tyr969_Arg1536delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255672" }, { "coordinates": [ { "allele": "A", "end": 3346, "referenceAllele": "C", "start": 3345 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.8:c.2922C>A" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Tyr974Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Tyr974_Arg1541delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270818" }, { "coordinates": [ { "allele": "A", "end": 3354, "referenceAllele": "C", "start": 3353 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000613218.4:c.2922C>A" ], "proteinEffect": { "hgvs": "ENSP00000480487.1:p.Tyr974Ter", "hgvsWellDefined": "ENSP00000480487.1:p.Tyr974_Arg1541delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401651" }, { "coordinates": [ { "allele": "A", "end": 3117, "referenceAllele": "C", "start": 3116 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000620121.4:c.2922C>A" ], "proteinEffect": { "hgvs": "ENSP00000481978.1:p.Tyr974Ter", "hgvsWellDefined": "ENSP00000481978.1:p.Tyr974_Arg1541delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404683" }, { "@id": "http://reg.genome.network/allele/PA645505277", "coordinates": [ { "allele": "A", "end": 3354, "referenceAllele": "C", "start": 3353 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.5:c.2922C>A", "LRG_630t1:c.2922C>A" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Tyr974Ter", "hgvsWellDefined": "NP_056153.2:p.Tyr974_Arg1541delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033938" }, { "coordinates": [ { "allele": "A", "end": 2986, "referenceAllele": "C", "start": 2985 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.2:c.2919C>A" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Tyr973Ter", "hgvsWellDefined": "XP_006723790.1:p.Tyr973_Arg1540delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075176" }, { "coordinates": [ { "allele": "A", "end": 2963, "referenceAllele": "C", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.2:c.2892C>A" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Tyr964Ter", "hgvsWellDefined": "XP_006723791.1:p.Tyr964_Arg1531delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075177" }, { "coordinates": [ { "allele": "A", "end": 3160, "referenceAllele": "C", "start": 3159 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.2:c.2838C>A" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Tyr946Ter", "hgvsWellDefined": "XP_006723793.1:p.Tyr946_Arg1513delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075178" }, { "coordinates": [ { "allele": "A", "end": 2982, "referenceAllele": "C", "start": 2981 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723732.2:c.2739C>A" ], "proteinEffect": { "hgvs": "XP_006723795.1:p.Tyr913Ter", "hgvsWellDefined": "XP_006723795.1:p.Tyr913_Arg1480delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075179" }, { "coordinates": [ { "allele": "A", "end": 2988, "referenceAllele": "C", "start": 2987 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723733.1:c.2238C>A" ], "proteinEffect": { "hgvs": "XP_006723796.1:p.Tyr746Ter", "hgvsWellDefined": "XP_006723796.1:p.Tyr746_Arg1313delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075180" }, { "coordinates": [ { "allele": "A", "end": 3218, "referenceAllele": "C", "start": 3217 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528647.1:c.3186C>A" ], "proteinEffect": { "hgvs": "XP_011526949.1:p.Tyr1062Ter", "hgvsWellDefined": "XP_011526949.1:p.Tyr1062_Arg1629delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095718" }, { "coordinates": [ { "allele": "A", "end": 3215, "referenceAllele": "C", "start": 3214 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.1:c.3183C>A" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Tyr1061Ter", "hgvsWellDefined": "XP_011526950.1:p.Tyr1061_Arg1628delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095719" }, { "coordinates": [ { "allele": "A", "end": 3134, "referenceAllele": "C", "start": 3133 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528649.1:c.3102C>A" ], "proteinEffect": { "hgvs": "XP_011526951.1:p.Tyr1034Ter", "hgvsWellDefined": "XP_011526951.1:p.Tyr1034_Arg1601delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095720" }, { "coordinates": [ { "allele": "A", "end": 3065, "referenceAllele": "C", "start": 3064 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528650.1:c.3033C>A" ], "proteinEffect": { "hgvs": "XP_011526952.1:p.Tyr1011Ter", "hgvsWellDefined": "XP_011526952.1:p.Tyr1011_Arg1578delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095721" }, { "coordinates": [ { "allele": "A", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528651.1:c.2901C>A" ], "proteinEffect": { "hgvs": "XP_011526953.1:p.Tyr967Ter", "hgvsWellDefined": "XP_011526953.1:p.Tyr967_Arg1534delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095722" }, { "coordinates": [ { "allele": "A", "end": 3681, "referenceAllele": "C", "start": 3680 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.1:c.2838C>A" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Tyr946Ter", "hgvsWellDefined": "XP_011526954.1:p.Tyr946_Arg1513delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095723" }, { "@id": "http://reg.genome.network/allele/PA2828107876", "coordinates": [ { "allele": "A", "end": 2982, "referenceAllele": "C", "start": 2981 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_001363734.1:c.2739C>A" ], "proteinEffect": { "hgvs": "NP_001350663.1:p.Tyr913Ter", "hgvsWellDefined": "NP_001350663.1:p.Tyr913_Arg1480delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523517" }, { "coordinates": [ { "allele": "A", "end": 3633, "referenceAllele": "C", "start": 3632 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.3:c.2919C>A" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Tyr973Ter", "hgvsWellDefined": "XP_006723790.1:p.Tyr973_Arg1540delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540813" }, { "coordinates": [ { "allele": "A", "end": 2963, "referenceAllele": "C", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.3:c.2892C>A" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Tyr964Ter", "hgvsWellDefined": "XP_006723791.1:p.Tyr964_Arg1531delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540814" }, { "coordinates": [ { "allele": "A", "end": 3271, "referenceAllele": "C", "start": 3270 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.4:c.2838C>A" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Tyr946Ter", "hgvsWellDefined": "XP_006723793.1:p.Tyr946_Arg1513delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540815" }, { "coordinates": [ { "allele": "A", "end": 3198, "referenceAllele": "C", "start": 3197 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.3:c.3183C>A" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Tyr1061Ter", "hgvsWellDefined": "XP_011526950.1:p.Tyr1061_Arg1628delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549199" }, { "coordinates": [ { "allele": "A", "end": 4296, "referenceAllele": "C", "start": 4295 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.2:c.2838C>A" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Tyr946Ter", "hgvsWellDefined": "XP_011526954.1:p.Tyr946_Arg1513delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549200" }, { "coordinates": [ { "allele": "A", "end": 4419, "referenceAllele": "C", "start": 4418 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027704.1:c.2838C>A" ], "proteinEffect": { "hgvs": "XP_016883193.1:p.Tyr946Ter", "hgvsWellDefined": "XP_016883193.1:p.Tyr946_Arg1513delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577606" }, { "coordinates": [ { "allele": "A", "end": 3432, "referenceAllele": "C", "start": 3431 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027705.1:c.2838C>A" ], "proteinEffect": { "hgvs": "XP_016883194.1:p.Tyr946Ter", "hgvsWellDefined": "XP_016883194.1:p.Tyr946_Arg1513delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577607" }, { "coordinates": [ { "allele": "A", "end": 3483, "referenceAllele": "C", "start": 3482 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027706.1:c.2769C>A" ], "proteinEffect": { "hgvs": "XP_016883195.1:p.Tyr923Ter", "hgvsWellDefined": "XP_016883195.1:p.Tyr923_Arg1490delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577608" }, { "@id": "http://reg.genome.network/allele/PA645505277", "coordinates": [ { "allele": "A", "end": 3367, "referenceAllele": "C", "start": 3366 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.6:c.2922C>A" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Tyr974Ter", "hgvsWellDefined": "NP_056153.2:p.Tyr974_Arg1541delinsCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2922C>A" }, "RefSeq": { "hgvs": "NM_015338.6:c.2922C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Tyr974Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Tyr974Ter" } } } } ], "type": "nucleotide" }