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"NM_058195.4:c.*2del" ], "proteinEffect": { "hgvs": "NP_478102.2:n.*2del" }, "referenceSequence": "http://reg.genome.network/refseq/RS729016", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000579755.2:c.*2del" }, "RefSeq": { "hgvs": "NM_058195.4:c.*2del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000462950.1:n.*2del" }, "RefSeq": { "hgvs": "NP_478102.2:n.*2del" } } } }, { "coordinates": [ { "allele": "", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN001787", "geneNCBI_id": 1029, "geneSymbol": "CDKN2A", "hgvs": [ "NM_058197.5:c.*281del" ], "proteinEffect": { "hgvs": "NP_478104.2:n.*281del" }, "referenceSequence": "http://reg.genome.network/refseq/RS729017" } ], "type": "nucleotide" }