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"http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524857.1:c.6729del" ], "proteinEffect": { "hgvs": "XP_011523159.1:p.Gln2244LysfsTer?", "hgvsWellDefined": "XP_011523159.1:p.[Gln2244_Asn2251delinsLysAspLeuHisSerAsnIleIleHis;Ser2253_Leu2254delinsCysAsn;Pro2256_Ala2258delinsGluLeuLeu;Val2260_Phe2262delinsSerLeu;Cys2264_His2271delinsValLeuAlaAsnGluCysLeuMet;Gln2273del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS091977" }, { "coordinates": [ { "allele": "", "end": 7032, "referenceAllele": "T", "start": 7031 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.3:c.6699del" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Gln2234LysfsTer?", "hgvsWellDefined": "NP_001035957.1:p.[Gln2234_Asn2241delinsLysAspLeuHisSerAsnIleIleHis;Ser2243_Leu2244delinsCysAsn;Pro2246_Ala2248delinsGluLeuLeu;Val2250_Phe2252delinsSerLeu;Cys2254_His2261delinsValLeuAlaAsnGluCysLeuMet;Gln2263del]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676037", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.6699del" }, "RefSeq": { "hgvs": "NM_001042492.3:c.6699del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Gln2234LysfsTer?" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Gln2234LysfsTer?" } } } } ], "type": "nucleotide" }