Problem of HGVSc conversion
smw1414 opened this issue · 1 comments
smw1414 commented
Describe the bug
Hi jannovar team,
java -jar jannovar-cli-0.36.jar annotate-pos -c 'chr9:92474742CTCA>C' -d data/refseq_curated_109_hg38.ser
>> chr9:92474742CTCA>C DISRUPTIVE_INFRAME_DELETION ASPN:NM_001193335.1:c.153del:p.(*243_F242del) .
The ser file was downloaded from https://github.com/charite/jannovar#databases.
I think the HGVSc should be c.153_155del but not c.153del. Please help to confirm, thank you.
To Reproduce
NA
Expected behavior
NA
Additional context
NA
holtgrewe commented