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In other words you never get to see the full length version of ENSP00000275493.2:p.His773_Val774insAsnPr.... It would be nice to see this. Or one might decide to show the ENSP00000275493.2:p.Asn771_His773dup in both places as this is the desired convention according to HGVS anyway?
The text was updated successfully, but these errors were encountered:
Thank you for the ClinGen Allele Registry. An absolutely invaluable resource!
One thing that has caught my attention that would be nice to clarify/fix. Consider this example:
https://reg.genome.network/redmine/projects/registry/genboree_registry/by_caid?caid=CA180983
One transcript HGVS for this allele looks like this.
ENST00000275493.7:c.2311_2319dup (EGFR)
To the right we see the corresponding protein representation shown as:
ENSP00000275493.2:p.His773_Val774insAsnPr...
As you can see it is truncated for display purposes due to length. But you can follow the URL to a dedicated page for this
p.
However, on that page it is shown as:
https://reg.genome.network/redmine/projects/registry/genboree_registry/by_caid?caid=PA2573051107
ENSP00000275493.2:p.Asn771_His773dup
In other words you never get to see the full length version of
ENSP00000275493.2:p.His773_Val774insAsnPr...
. It would be nice to see this. Or one might decide to show theENSP00000275493.2:p.Asn771_His773dup
in both places as this is the desired convention according to HGVS anyway?The text was updated successfully, but these errors were encountered: