HGVS Nomenclature Now Supported in the Genome Browser

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Luvina Guruvadoo

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Oct 18, 2016, 12:53:22 PM10/18/16
to genome-...@soe.ucsc.edu

Hello All -

We are pleased to announce the first release of our support for HGVS nomenclature in the Genome Browser. Navigate directly to individual nucleotides or codons using coordinates in the following formats:

  • NM_198576.3(AGRN):c.1057C>T
  • NM_198056.2:c.1654G>T
  • NP_002993.1:p.Asp92Glu
  • NP_002993.1:p.D92E
  • BRCA1 Ala744Cys

The gene-name format uses RefSeq genes to identify the codon. In the next release we will add support for nomenclature describing coding (c.) intron and UTR coordinates as well as insertions, deletions and duplications


As always, any questions or feedback may be sent to our public mailing list at gen...@soe.ucsc.edu.

Regards,
Luvina

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