akeeeshi

Question about HGVS representation for termination retention

6

The variant below retains the stop codon of the transcript. It produces a posedit at the var_p level that is represented as (Ter659Ter). For any other coding-silent variant the system...

FLT3 Large Insertion Generating Incorrect HGVS_P

17

I found a curious situation when trying to annotator a large insertion in FLT3. This insertion of about ~100 basepairs seems to produce a hgvs_p signifying a delins affecting nearly...

HGNC Values are Missing on Some Transcripts

7

Our team recently noticed that for a small subset of transcripts within UTA the hgnc field is empty. See entry below comparing the record for the transcript of BRAF vs....