{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129585", "communityStandardTitle": [ "NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39942[alleleid]", "alleleId": 39942, "preferredName": "NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30985", "RCV": [ "RCV000023976" ], "variationId": 30985 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.31023288C>T?assembly=hg19", "id": "chr20:g.31023288C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.32435485C>T?assembly=hg38", "id": "chr20:g.32435485C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387907077", "rs": 387907077 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32435485-C-T?dataset=gnomad_r3", "id": "20-32435485-C-T", "variant": "20:32435485 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-32435485-C-T?dataset=gnomad_r4", "id": "20-32435485-C-T", "variant": "20:32435485 C / T" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 32435485, "referenceAllele": "C", "start": 32435484 } ], "hgvs": [ "NC_000020.11:g.32435485C>T", "CM000682.2:g.32435485C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 31023288, "referenceAllele": "C", "start": 31023287 } ], "hgvs": [ "NC_000020.10:g.31023288C>T", "CM000682.1:g.31023288C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "T", "end": 30486949, "referenceAllele": "C", "start": 30486948 } ], "hgvs": [ "NC_000020.9:g.30486949C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 82142, "referenceAllele": "C", "start": 82141 } ], "hgvs": [ "NG_027868.1:g.82142C>T", "LRG_630:g.82142C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003997" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3218, "referenceAllele": "C", "start": 3217 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.10:c.2773C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Gln925Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Gln925_Arg1541delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751652", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2773C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.2773C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Gln925Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Gln925Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2833, "referenceAllele": "C", "start": 2832 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000646985.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000495053.1:p.Gln864Ter", "hgvsWellDefined": "ENSP00000495053.1:p.Gln864_Arg1480delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769174" }, { "coordinates": [ { "allele": "T", "end": 5126, "referenceAllele": "C", "start": 5125 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000647223.1:n.5126C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769293" }, { "coordinates": [ { "allele": "T", "end": 2315, "endIntronDirection": "+", "endIntronOffset": 904, "referenceAllele": "C", "start": 2315, "startIntronDirection": "+", "startIntronOffset": 903 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000651418.1:c.1869+904C>T" ], "proteinEffect": { "hgvs": "ENSP00000499150.1:n.1869+904C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS771655" }, { "coordinates": [ { "allele": "T", "end": 2758, "referenceAllele": "C", "start": 2757 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000306058.9:c.2758C>T" ], "proteinEffect": { "hgvs": "ENSP00000305119.5:p.Gln920Ter", "hgvsWellDefined": "ENSP00000305119.5:p.Gln920_Arg1536delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255672" }, { "coordinates": [ { "allele": "T", "end": 3197, "referenceAllele": "C", "start": 3196 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000375687.8:c.2773C>T" ], "proteinEffect": { "hgvs": "ENSP00000364839.4:p.Gln925Ter", "hgvsWellDefined": "ENSP00000364839.4:p.Gln925_Arg1541delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270818" }, { "coordinates": [ { "allele": "T", "end": 3205, "referenceAllele": "C", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000613218.4:c.2773C>T" ], "proteinEffect": { "hgvs": "ENSP00000480487.1:p.Gln925Ter", "hgvsWellDefined": "ENSP00000480487.1:p.Gln925_Arg1541delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401651" }, { "coordinates": [ { "allele": "T", "end": 2968, "referenceAllele": "C", "start": 2967 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "ENST00000620121.4:c.2773C>T" ], "proteinEffect": { "hgvs": "ENSP00000481978.1:p.Gln925Ter", "hgvsWellDefined": "ENSP00000481978.1:p.Gln925_Arg1541delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404683" }, { "@id": "http://reg.genome.network/allele/PA129587", "coordinates": [ { "allele": "T", "end": 3205, "referenceAllele": "C", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.5:c.2773C>T", "LRG_630t1:c.2773C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Gln925Ter", "hgvsWellDefined": "NP_056153.2:p.Gln925_Arg1541delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033938" }, { "coordinates": [ { "allele": "T", "end": 2837, "referenceAllele": "C", "start": 2836 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.2:c.2770C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Gln924Ter", "hgvsWellDefined": "XP_006723790.1:p.Gln924_Arg1540delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075176" }, { "coordinates": [ { "allele": "T", "end": 2814, "referenceAllele": "C", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.2:c.2743C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Gln915Ter", "hgvsWellDefined": "XP_006723791.1:p.Gln915_Arg1531delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075177" }, { "coordinates": [ { "allele": "T", "end": 3011, "referenceAllele": "C", "start": 3010 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.2:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Gln897Ter", "hgvsWellDefined": "XP_006723793.1:p.Gln897_Arg1513delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075178" }, { "coordinates": [ { "allele": "T", "end": 2833, "referenceAllele": "C", "start": 2832 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723732.2:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_006723795.1:p.Gln864Ter", "hgvsWellDefined": "XP_006723795.1:p.Gln864_Arg1480delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075179" }, { "coordinates": [ { "allele": "T", "end": 2839, "referenceAllele": "C", "start": 2838 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723733.1:c.2089C>T" ], "proteinEffect": { "hgvs": "XP_006723796.1:p.Gln697Ter", "hgvsWellDefined": "XP_006723796.1:p.Gln697_Arg1313delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075180" }, { "coordinates": [ { "allele": "T", "end": 3069, "referenceAllele": "C", "start": 3068 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528647.1:c.3037C>T" ], "proteinEffect": { "hgvs": "XP_011526949.1:p.Gln1013Ter", "hgvsWellDefined": "XP_011526949.1:p.Gln1013_Arg1629delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095718" }, { "coordinates": [ { "allele": "T", "end": 3066, "referenceAllele": "C", "start": 3065 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.1:c.3034C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Gln1012Ter", "hgvsWellDefined": "XP_011526950.1:p.Gln1012_Arg1628delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095719" }, { "coordinates": [ { "allele": "T", "end": 2985, "referenceAllele": "C", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528649.1:c.2953C>T" ], "proteinEffect": { "hgvs": "XP_011526951.1:p.Gln985Ter", "hgvsWellDefined": "XP_011526951.1:p.Gln985_Arg1601delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095720" }, { "coordinates": [ { "allele": "T", "end": 2916, "referenceAllele": "C", "start": 2915 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528650.1:c.2884C>T" ], "proteinEffect": { "hgvs": "XP_011526952.1:p.Gln962Ter", "hgvsWellDefined": "XP_011526952.1:p.Gln962_Arg1578delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095721" }, { "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528651.1:c.2752C>T" ], "proteinEffect": { "hgvs": "XP_011526953.1:p.Gln918Ter", "hgvsWellDefined": "XP_011526953.1:p.Gln918_Arg1534delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095722" }, { "coordinates": [ { "allele": "T", "end": 3532, "referenceAllele": "C", "start": 3531 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.1:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Gln897Ter", "hgvsWellDefined": "XP_011526954.1:p.Gln897_Arg1513delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095723" }, { "@id": "http://reg.genome.network/allele/PA2828107852", "coordinates": [ { "allele": "T", "end": 2833, "referenceAllele": "C", "start": 2832 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_001363734.1:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001350663.1:p.Gln864Ter", "hgvsWellDefined": "NP_001350663.1:p.Gln864_Arg1480delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523517" }, { "coordinates": [ { "allele": "T", "end": 3484, "referenceAllele": "C", "start": 3483 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723727.3:c.2770C>T" ], "proteinEffect": { "hgvs": "XP_006723790.1:p.Gln924Ter", "hgvsWellDefined": "XP_006723790.1:p.Gln924_Arg1540delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540813" }, { "coordinates": [ { "allele": "T", "end": 2814, "referenceAllele": "C", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723728.3:c.2743C>T" ], "proteinEffect": { "hgvs": "XP_006723791.1:p.Gln915Ter", "hgvsWellDefined": "XP_006723791.1:p.Gln915_Arg1531delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540814" }, { "coordinates": [ { "allele": "T", "end": 3122, "referenceAllele": "C", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_006723730.4:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_006723793.1:p.Gln897Ter", "hgvsWellDefined": "XP_006723793.1:p.Gln897_Arg1513delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540815" }, { "coordinates": [ { "allele": "T", "end": 3049, "referenceAllele": "C", "start": 3048 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528648.3:c.3034C>T" ], "proteinEffect": { "hgvs": "XP_011526950.1:p.Gln1012Ter", "hgvsWellDefined": "XP_011526950.1:p.Gln1012_Arg1628delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549199" }, { "coordinates": [ { "allele": "T", "end": 4147, "referenceAllele": "C", "start": 4146 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_011528652.2:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_011526954.1:p.Gln897Ter", "hgvsWellDefined": "XP_011526954.1:p.Gln897_Arg1513delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549200" }, { "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "C", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027704.1:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_016883193.1:p.Gln897Ter", "hgvsWellDefined": "XP_016883193.1:p.Gln897_Arg1513delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577606" }, { "coordinates": [ { "allele": "T", "end": 3283, "referenceAllele": "C", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027705.1:c.2689C>T" ], "proteinEffect": { "hgvs": "XP_016883194.1:p.Gln897Ter", "hgvsWellDefined": "XP_016883194.1:p.Gln897_Arg1513delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577607" }, { "coordinates": [ { "allele": "T", "end": 3334, "referenceAllele": "C", "start": 3333 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "XM_017027706.1:c.2620C>T" ], "proteinEffect": { "hgvs": "XP_016883195.1:p.Gln874Ter", "hgvsWellDefined": "XP_016883195.1:p.Gln874_Arg1490delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577608" }, { "@id": "http://reg.genome.network/allele/PA129587", "coordinates": [ { "allele": "T", "end": 3218, "referenceAllele": "C", "start": 3217 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.6:c.2773C>T" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Gln925Ter", "hgvsWellDefined": "NP_056153.2:p.Gln925_Arg1541delinsValGlyGluGluTrpGluLysAlaAlaProThrProProAlaLeuProGlyAspLeuThrAlaGluGluGlyLeuAspProLeuAspSerLeuThrSerLeuTrpThrValProSerArgGlyGlySerAspSerAsnGlySerTyrCysGlnGlnValAspIleGluLysLeuLysIleAsnGlyAspSerGluAlaLeuSerProHisGlyGluSerThrAspThrAlaSerAspPheGluGlyHisLeuThrGluAspSerSerGluAlaAspThrArgGluAlaAlaValThrLysGlySerSerValAspLysAspGluLysProAsnTrpAsnGlnSerAlaProLeuSerLysValAsnGlyAspMetArgLeuValThrArgThrAspGlyMetValAlaProGlnSerTrpValSerArgValCysAlaValArgGlnLysIleProAspSerLeuLeuLeuAlaSerThrGluTyrGlnProArgAlaValCysLeuSerMetProGlySerSerValGluAlaThrAsnProLeuValMetGlnLeuLeuGlnGlySerLeuProLeuGluLysValLeuProProAlaHisAspAspSerMetSerGluSerProGlnValProLeuThrLysAspGlnSerHisGlySerLeuArgMetGlySerLeuHisGlyLeuGlyLysAsnSerGlyMetValAspGlySerSerProSerSerLeuArgAlaLeuLysGluProLeuLeuProAspSerCysGluThrGlyThrGlyLeuAlaArgIleGluAlaThrGlnAlaProGlyAlaProGlnLysAsnCysLysAlaValProSerPheAspSerLeuHisProValThrAsnProIleThrSerSerArgLysLeuGluGluMetAspSerLysGluGlnPheSerSerPheSerCysGluAspGlnLysGluValArgAlaMetSerGlnAspSerAsnSerAsnAlaAlaProGlyLysSerProGlyAspLeuThrThrSerArgThrProArgPheSerSerProAsnValIleSerPheGlyProGluGlnThrGlyArgAlaLeuGlyAspGlnSerAsnValThrGlyGlnGlyLysLysLeuPheGlySerGlyAsnValAlaAlaThrLeuGlnArgProArgProAlaAspProMetProLeuProAlaGluIleProProValPheProSerGlyLysLeuGlyProSerThrAsnSerMetSerGlyGlyValGlnThrProArgGluAspTrpAlaProLysProHisAlaPheValGlySerValLysAsnGluLysThrPheValGlyGlyProLeuLysAlaAsnAlaGluAsnArgLysAlaThrGlyHisSerProLeuGluLeuValGlyHisLeuGluGlyMetProPheValMetAspLeuProPheTrpLysLeuProArgGluProGlyLysGlyLeuSerGluProLeuGluProSerSerLeuProSerGlnLeuSerIleLysGlnAlaPheTyrGlyLysLeuSerLysLeuGlnLeuSerSerThrSerPheAsnTyrSerSerSerSerProThrPheProLysGlyLeuAlaGlySerValValGlnLeuSerHisLysAlaAsnPheGlyAlaSerHisSerAlaSerLeuSerLeuGlnMetPheThrAspSerSerThrValGluSerIleSerLeuGlnCysAlaCysSerLeuLysAlaMetIleMetCysGlnGlyCysGlyAlaPheCysHisAspAspCysIleGlyProSerLysLeuCysValLeuCysLeuValValArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.2773C>T" }, "RefSeq": { "hgvs": "NM_015338.6:c.2773C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Gln925Ter" }, "RefSeq": { "hgvs": "NP_056153.2:p.Gln925Ter" } } } } ], "type": "nucleotide" }