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Naming inconsistency for Amino Acid HGVS expressions #5

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malachig opened this issue Mar 8, 2022 · 0 comments
Open

Naming inconsistency for Amino Acid HGVS expressions #5

malachig opened this issue Mar 8, 2022 · 0 comments

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@malachig
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malachig commented Mar 8, 2022

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 the ENSP00000275493.2:p.Asn771_His773dup in both places as this is the desired convention according to HGVS anyway?

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