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"XP_016883195.1:p.[Gln1249_Leu1253delinsArgProArgGluGluAla;Gly1255_Arg1265delinsTrpLeuTrpGluCysGlyCysAsnProSerAla;Arg1267_Pro1268delinsGln;Asp1270_Met1272delinsCysGly;Leu1274_Ile1278delinsAspAlaSerSerCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577608" }, { "coordinates": [ { "allele": "AGGC", "end": 4342, "referenceAllele": "", "start": 4342 } ], "gene": "http://reg.genome.network/gene/GN018318", "geneNCBI_id": 171023, "geneSymbol": "ASXL1", "hgvs": [ "NM_015338.6:c.3894_3897dup" ], "proteinEffect": { "hgvs": "NP_056153.2:p.Gln1300ArgfsTer30", "hgvsWellDefined": "NP_056153.2:p.[Gln1300_Leu1304delinsArgProArgGluGluAla;Gly1306_Arg1316delinsTrpLeuTrpGluCysGlyCysAsnProSerAla;Arg1318_Pro1319delinsGln;Asp1321_Met1323delinsCysGly;Leu1325_Ile1329delinsAspAlaSerSerCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS697514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375687.10:c.3894_3897dup" }, "RefSeq": { "hgvs": "NM_015338.6:c.3894_3897dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364839.4:p.Gln1300ArgfsTer30" }, "RefSeq": { "hgvs": "NP_056153.2:p.Gln1300ArgfsTer30" } } } } ], "type": "nucleotide" }