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Possible Bug with right alignment in Deletion #38

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berntpopp opened this issue May 6, 2024 · 1 comment

berntpopp commented May 6, 2024 •

edited

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The Deletion GRCh38(chr16):g.2107117_2122606del
is normalized to
NC_000016.10(NM_001009944.3):c.216-3226_7066-167del.

I believe applying the 3' rule is needed and the corect variant should be:
NM_001009944.3:c.216-3228_7066-169del

berntpopp changed the title ~~Possible Bug with right alignment in Deletion:~~ Possible Bug with right alignment in Deletion

Contributor

mihailefter commented May 6, 2024

Since NM_001009944.3 is on the reverse strand, the normalized description is NC_000016.10(NM_001009944.3):c.216-3226_7066-167del.

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