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"NM_001077490.3:c.*954del" ], "proteinEffect": { "hgvs": "NP_001070958.1:n.*954del" }, "referenceSequence": "http://reg.genome.network/refseq/RS711767" }, { "coordinates": [ { "allele": "", "end": 2096, "referenceAllele": "T", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_016592.5:c.*999del" ], "proteinEffect": { "hgvs": "NP_057676.1:n.*999del" }, "referenceSequence": "http://reg.genome.network/refseq/RS728196", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371075.7:c.*999del" }, "RefSeq": { "hgvs": "NM_016592.5:c.*999del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360115.3:n.*999del" }, "RefSeq": { "hgvs": "NP_057676.1:n.*999del" } } } }, { "coordinates": [ { "allele": "", "end": 3572, "referenceAllele": "T", "start": 3571 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_080425.4:c.3022del" ], "proteinEffect": { "hgvs": "NP_536350.2:p.Cys1008AlafsTer?", "hgvsWellDefined": "NP_536350.2:p.[Cys1008del;Val1010_Asp1011delinsLeuTrp;Glu1013_Arg1017delinsLeuArgThrSerAla;Phe1019_Leu1037delinsCysSerThrThrAlaValThrSerPheSerAlaCysThrPheValSerThrSerCysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS729035", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371100.9:c.3022del" }, "RefSeq": { "hgvs": "NM_080425.4:c.3022del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360141.3:p.Cys1008AlafsTer?" }, "RefSeq": { "hgvs": "NP_536350.2:p.Cys1008AlafsTer?" } } } } ], "type": "nucleotide" }