This application shows the description of the variant in the various formats (Local, VCF, HGVS genomic and HGVS of all isoforms).
It also shows the affected region and the biological effect of the variant on the protein.
Note that this application aligns the 'gaps' (indel) on the left in the Local and VCF formats, while it aligns them on the right in HGVS formats
Furthermore, it also checks that the possible sequence of the references is correct (warns if incorrect)and checks whether to consider the duplication or inversion variant.

If the variant falls within the CDS, it is possible to see the alignment of the genomic, transcript and protein sequence (with the protein change) in a region around the variant using the link to the 'AlignTrascript' application present in this platform

Try our example

Genomic Release:
Data Input in Local format
Chrom:   Pos:   (Optional)
  Variant:   Gap:
Note: the maximum length of the reference or variant sequence must be 250 nt