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