viewing hgvs in genome data viewer
0
0
Entering edit mode
12 months ago
curious ▴ 750

So I am using this ncbi viewer to visualize NM_000106.5:c.775delA within NM_000106.5. This is extremely handy and I can see the variant at the coding DNA reference sequence. But is there any way within this view to zoom out and see where this location is in the linear genomic reference sequence GCF_000001405.40?

I tried searching ncbi viewer for NM_000106.5:c.775delA within GCF_000001405.40 and it does give me a position but it seems to be relative to NM_000106.6.

I want to ensure that I know the corresponding genomic position for M_000106.5:c.775delA with certainty (or is my second search the answer)?

ncbi hgvs clinvar • 689 views
ADD COMMENT
1
Entering edit mode

You may want to use NCBI Genome Data viewer instead: https://www.ncbi.nlm.nih.gov/genome/gdv/browser/genome/?id=GCF_000001405.40

Enter NM_000106.5:c.775delA in search assembly to get this view.

view

ADD REPLY
0
Entering edit mode

That is what I was doing originally, but if you look in your picture under "transcript" (blue bar) it says NM_000106.6 not NM_000106.5. I am concerned there might be small differences between the sequences/positions

ADD REPLY
0
Entering edit mode

You are always going to find the latest revision of a sequence in these viewers. You can check on the revision history to see what difference there may be between the versions by checking: https://www.ncbi.nlm.nih.gov/nuccore/NM_000106/?report=girevhist

More detail: https://www.ncbi.nlm.nih.gov/sviewer/girevhist-diff/girevhist-diff.cgi?tool=portal&db=nuccore&frst=1435110251_46_165194071_Jul%2027,%202018%2012:55%20PM_6_1&scnd=392513720_46_161804281_Jul%208,%202018%2011:23%20AM_5_1&history_fmt=fasta

It looks like there was a substantial change in the sequence between the two versions.

ADD REPLY
0
Entering edit mode

Thanks so much!

ADD REPLY

Login before adding your answer.

Traffic: 1878 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6