{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA130319", "communityStandardTitle": [ "NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=267971", "active": true, "id": "COSM267971" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5103204", "active": true, "id": "COSM5103204" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48068[alleleid]", "alleleId": 48068, "preferredName": "NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39469", "RCV": [ "RCV000032665", "RCV000255108" ], "variationId": 39469 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-31023408-C-T", "id": "20-31023408-C-T", "variant": "20:31023408 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.31023408C>T?assembly=hg19", "id": "chr20:g.31023408C>T" }, { "@id": "http://myvariant.info/v1/variant/chr20:g.31023408_31023411delinsTGAG?assembly=hg19", "id": "chr20:g.31023408_31023411delinsTGAG" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.32435605C>T?assembly=hg38", "id": "chr20:g.32435605C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397515401", "rs": 397515401 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-31023408-C-T?dataset=gnomad_r2_1", "id": "20-31023408-C-T", "variant": "20:31023408 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32435605-C-T?dataset=gnomad_r3", "id": "20-32435605-C-T", "variant": "20:32435605 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32435605-C-T?dataset=gnomad_r4", "id": "20-32435605-C-T", "variant": "20:32435605 C / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 32435605, "referenceAllele": "C", "start": 32435604 } ], "hgvs": [ "NC_000020.11:g.32435605C>T", "CM000682.2:g.32435605C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 31023408, "referenceAllele": "C", "start": 31023407 } ], "hgvs": [ "NC_000020.10:g.31023408C>T", "CM000682.1:g.31023408C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 30487069, "referenceAllele": "C", "start": 30487068 } ], "hgvs": [ "NC_000020.9:g.30487069C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 82262, "referenceAllele": "C", "start": 82261 } ], "hgvs": [ "NG_027868.1:g.82262C>T", "LRG_630:g.82262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003997" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3338, "referenceAllele": "C", "start": 3337 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.10:c.2893C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Arg965Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Arg965_Arg1541delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2893C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.2893C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Arg965Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Arg965Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2953, "referenceAllele": "C", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000646985.1:c.2710C>T" ], "proteinEffect": { "hgvs": "ENSP00000495053.1:p.Arg904Ter", "hgvsWellDefined": "ENSP00000495053.1:p.Arg904_Arg1480delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769174" }, { "coordinates": [ { "allele": "T", "end": 5246, "referenceAllele": "C", "start": 5245 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000647223.1:n.5246C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769293" }, { "coordinates": [ { "allele": "T", "end": 2315, "endIntronDirection": "+", "endIntronOffset": 1024, "referenceAllele": "C", "start": 2315, "startIntronDirection": "+", "startIntronOffset": 1023 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000651418.1:c.1869+1024C>T" ], "proteinEffect": { "hgvs": "ENSP00000499150.1:n.1869+1024C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS771655" }, { "coordinates": [ { "allele": "T", "end": 2878, "referenceAllele": "C", "start": 2877 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000306058.9:c.2878C>T" ], "proteinEffect": { "hgvs": "ENSP00000305119.5:p.Arg960Ter", "hgvsWellDefined": "ENSP00000305119.5:p.Arg960_Arg1536delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255672" }, { "coordinates": [ { "allele": "T", "end": 3317, "referenceAllele": "C", "start": 3316 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.8:c.2893C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Arg965Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Arg965_Arg1541delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270818" }, { "coordinates": [ { "allele": "T", "end": 3325, "referenceAllele": "C", "start": 3324 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000613218.4:c.2893C>T" ], "proteinEffect": { "hgvs": "ENSP00000480487.1:p.Arg965Ter", "hgvsWellDefined": "ENSP00000480487.1:p.Arg965_Arg1541delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401651" }, { "coordinates": [ { "allele": "T", "end": 3088, "referenceAllele": "C", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000620121.4:c.2893C>T" ], "proteinEffect": { "hgvs": "ENSP00000481978.1:p.Arg965Ter", "hgvsWellDefined": "ENSP00000481978.1:p.Arg965_Arg1541delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404683" }, { "@id": "http://reg.genome.network/allele/PA130321", "coordinates": [ { "allele": "T", "end": 3325, "referenceAllele": "C", "start": 3324 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.5:c.2893C>T", "LRG_630t1:c.2893C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Arg965Ter", "hgvsWellDefined": "NP_056153.2:p.Arg965_Arg1541delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033938" }, { "coordinates": [ { "allele": "T", "end": 2957, "referenceAllele": "C", "start": 2956 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.2:c.2890C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Arg964Ter", "hgvsWellDefined": "XP_006723790.1:p.Arg964_Arg1540delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075176" }, { "coordinates": [ { "allele": "T", "end": 2934, "referenceAllele": "C", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.2:c.2863C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Arg955Ter", "hgvsWellDefined": "XP_006723791.1:p.Arg955_Arg1531delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075177" }, { "coordinates": [ { "allele": "T", "end": 3131, "referenceAllele": "C", "start": 3130 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.2:c.2809C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Arg937Ter", "hgvsWellDefined": "XP_006723793.1:p.Arg937_Arg1513delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075178" }, { "coordinates": [ { "allele": "T", "end": 2953, "referenceAllele": "C", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723732.2:c.2710C>T" ], "proteinEffect": { "hgvs": "XP_006723795.1:p.Arg904Ter", "hgvsWellDefined": "XP_006723795.1:p.Arg904_Arg1480delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075179" }, { "coordinates": [ { "allele": "T", "end": 2959, "referenceAllele": "C", "start": 2958 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723733.1:c.2209C>T" ], "proteinEffect": { "hgvs": "XP_006723796.1:p.Arg737Ter", "hgvsWellDefined": "XP_006723796.1:p.Arg737_Arg1313delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075180" }, { "coordinates": [ { "allele": "T", "end": 3189, "referenceAllele": "C", "start": 3188 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528647.1:c.3157C>T" ], "proteinEffect": { "hgvs": "XP_011526949.1:p.Arg1053Ter", "hgvsWellDefined": "XP_011526949.1:p.Arg1053_Arg1629delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095718" }, { "coordinates": [ { "allele": "T", "end": 3186, "referenceAllele": "C", "start": 3185 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.1:c.3154C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Arg1052Ter", "hgvsWellDefined": "XP_011526950.1:p.Arg1052_Arg1628delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095719" }, { "coordinates": [ { "allele": "T", "end": 3105, "referenceAllele": "C", "start": 3104 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528649.1:c.3073C>T" ], "proteinEffect": { "hgvs": "XP_011526951.1:p.Arg1025Ter", "hgvsWellDefined": "XP_011526951.1:p.Arg1025_Arg1601delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095720" }, { "coordinates": [ { "allele": "T", "end": 3036, "referenceAllele": "C", "start": 3035 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528650.1:c.3004C>T" ], "proteinEffect": { "hgvs": "XP_011526952.1:p.Arg1002Ter", "hgvsWellDefined": "XP_011526952.1:p.Arg1002_Arg1578delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095721" }, { "coordinates": [ { "allele": "T", "end": 2897, "referenceAllele": "C", "start": 2896 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528651.1:c.2872C>T" ], "proteinEffect": { "hgvs": "XP_011526953.1:p.Arg958Ter", "hgvsWellDefined": "XP_011526953.1:p.Arg958_Arg1534delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095722" }, { "coordinates": [ { "allele": "T", "end": 3652, "referenceAllele": "C", "start": 3651 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.1:c.2809C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Arg937Ter", "hgvsWellDefined": "XP_011526954.1:p.Arg937_Arg1513delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095723" }, { "@id": "http://reg.genome.network/allele/PA2828107870", "coordinates": [ { "allele": "T", "end": 2953, "referenceAllele": "C", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_001363734.1:c.2710C>T" ], "proteinEffect": { "hgvs": "NP_001350663.1:p.Arg904Ter", "hgvsWellDefined": "NP_001350663.1:p.Arg904_Arg1480delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523517" }, { "coordinates": [ { "allele": "T", "end": 3604, "referenceAllele": "C", "start": 3603 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.3:c.2890C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Arg964Ter", "hgvsWellDefined": "XP_006723790.1:p.Arg964_Arg1540delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540813" }, { "coordinates": [ { "allele": "T", "end": 2934, "referenceAllele": "C", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.3:c.2863C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Arg955Ter", "hgvsWellDefined": "XP_006723791.1:p.Arg955_Arg1531delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540814" }, { "coordinates": [ { "allele": "T", "end": 3242, "referenceAllele": "C", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.4:c.2809C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Arg937Ter", "hgvsWellDefined": "XP_006723793.1:p.Arg937_Arg1513delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540815" }, { "coordinates": [ { "allele": "T", "end": 3169, "referenceAllele": "C", "start": 3168 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.3:c.3154C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Arg1052Ter", "hgvsWellDefined": "XP_011526950.1:p.Arg1052_Arg1628delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549199" }, { "coordinates": [ { "allele": "T", "end": 4267, "referenceAllele": "C", "start": 4266 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.2:c.2809C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Arg937Ter", "hgvsWellDefined": "XP_011526954.1:p.Arg937_Arg1513delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549200" }, { "coordinates": [ { "allele": "T", "end": 4390, "referenceAllele": "C", "start": 4389 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027704.1:c.2809C>T" ], "proteinEffect": { "hgvs": "XP_016883193.1:p.Arg937Ter", "hgvsWellDefined": "XP_016883193.1:p.Arg937_Arg1513delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577606" }, { "coordinates": [ { "allele": "T", "end": 3403, "referenceAllele": "C", "start": 3402 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027705.1:c.2809C>T" ], "proteinEffect": { "hgvs": "XP_016883194.1:p.Arg937Ter", "hgvsWellDefined": "XP_016883194.1:p.Arg937_Arg1513delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577607" }, { "coordinates": [ { "allele": "T", "end": 3454, "referenceAllele": "C", "start": 3453 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027706.1:c.2740C>T" ], "proteinEffect": { "hgvs": "XP_016883195.1:p.Arg914Ter", "hgvsWellDefined": "XP_016883195.1:p.Arg914_Arg1490delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577608" }, { "@id": "http://reg.genome.network/allele/PA130321", "coordinates": [ { "allele": "T", "end": 3338, "referenceAllele": "C", "start": 3337 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.6:c.2893C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Arg965Ter", "hgvsWellDefined": "NP_056153.2:p.Arg965_Arg1541delinsGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2893C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.2893C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Arg965Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Arg965Ter" } } } } ], "type": "nucleotide" }