a deletion with an inversion

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Анна Степанова

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Nov 27, 2025, 12:20:49 PM (8 days ago) Nov 27

to HGVS Nomenclature

Dear HGVS, could you please tell me the correct name for a deletion with an inversion in the CFTR gene? A deletion occurred between coordinates (hg38) chr7:117498441 and chr7:117506550, and the fragment chr7:117515919-117516106 inverted and replaced the deletion?

Johan den Dunnen

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Nov 27, 2025, 1:28:12 PM (8 days ago) Nov 27

to HGVS Nomenclature

Dear stepanovanna,

assuming the sequecing replacing the deleted sequence the correct description following HGVS nomenclature is NC_000007.14:g.117498441_117506550delins117515919_117516106inv.

When the segment (117515919_117516106) is deleted at its original position, this deletion has to be described as well.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op donderdag 27 november 2025 om 18:20:49 UTC+1 schreef stepan...@gmail.com:

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