HGVS listing of multiple RNA and protein consequences

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Kunc Lorena

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Jan 14, 2026, 7:29:59 AM (6 days ago) Jan 14

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Dear HGVS group,

Based on mRNA analysis, we have shown that a single DNA variant results in three different aberrant transcripts, leading to three protein products: a nonsense change, a frameshift, and a missense change.

Could you please advise on the correct way to list these consequences?

Should the RNA changes be described using a single r.[…], for example r.[171_185del,171_195del,172g>u], or should each RNA change be listed separately as [r.171_185del, r.171_195del, r.172g>u]?

Should the protein changes be described individually as p.(Trp57*), p.(Trp57Cysfs14), p.(Asp58Tyr), or listed together as p.[Trp57,Trp57Cysfs*14,Asp58Tyr]?

Thank you in advance.

Kind regards,

Lorena Kunc

Lorena Kunc, M.Sc.

Department of Molecular Diagnostics

Institute of Oncology Ljubljana

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