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"referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "", "end": 3317, "referenceAllele": "TG", "start": 3315 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.3206_3207del" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Val1069AspfsTer?", "hgvsWellDefined": "NP_000539.2:p.[Val1069_Leu1081delinsAspAspLysArgGlyAsnArgAspProValValThrArgPro;Asp1084_Ser1090delinsGlyGlyAlaAlaValArgPro;Pro1092Val;Ser1094_Ser1097delinsLeuGln;Gly1099Arg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.3206_3207del" }, "RefSeq": { "hgvs": "NM_000548.5:c.3206_3207del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Val1069AspfsTer?" }, "RefSeq": { "hgvs": "NP_000539.2:p.Val1069AspfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 3185, 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"referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "coordinates": [ { "allele": "", "end": 3176, "referenceAllele": "TG", "start": 3174 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3107_3108del" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Val1036AspfsTer?", "hgvsWellDefined": "NP_001305761.1:p.[Val1036_Leu1048delinsAspAspLysArgGlyAsnArgAspProValValThrArgPro;Asp1051_Ser1057delinsGlyGlyAlaAlaValArgPro;Pro1059Val;Ser1061_Ser1064delinsLeuGln;Gly1066Arg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "coordinates": [ { "allele": "", "end": 3188, "referenceAllele": "TG", "start": 3186 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3077_3078del" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Val1026AspfsTer?", "hgvsWellDefined": "NP_001350457.1:p.[Val1026_Leu1038delinsAspAspLysArgGlyAsnArgAspProValValThrArgPro;Asp1041_Ser1047delinsGlyGlyAlaAlaValArgPro;Pro1049Val;Ser1051_Ser1054delinsLeuGln;Gly1056Arg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "coordinates": [ { "allele": "", "end": 3188, "referenceAllele": "TG", "start": 3186 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.3077_3078del" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Val1026AspfsTer?", "hgvsWellDefined": "NP_066399.2:p.[Val1026_Leu1038delinsAspAspLysArgGlyAsnArgAspProValValThrArgPro;Asp1041_Ser1047delinsGlyGlyAlaAlaValArgPro;Pro1049Val;Ser1051_Ser1054delinsLeuGln;Gly1056Arg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }