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Two TET2 variants in cis were obtained: NM_001127208.2:c.1484_1486del and NM_001127208.2:c.1489del
According to HGVS recommendations, these should be described as: NM_001127208.2:c.[1484_1486del;1489del] and the protein changes should be described as p.[Thr495del;Thr497Leufs*36]
However Mutalyzer converts this to NM_001127208.2:c.1484_1489delinsTG p.Thr495Metfs*37
Is this a failure of Mutalyzer or is the delins nomenclature acceptable?
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Two TET2 variants in cis were obtained: NM_001127208.2:c.1484_1486del and NM_001127208.2:c.1489del
According to HGVS recommendations, these should be described as: NM_001127208.2:c.[1484_1486del;1489del] and the protein changes should be described as p.[Thr495del;Thr497Leufs*36]
However Mutalyzer converts this to NM_001127208.2:c.1484_1489delinsTG p.Thr495Metfs*37
Is this a failure of Mutalyzer or is the delins nomenclature acceptable?
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