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
Example 1): Gene LMNA     Variant:c.51C>T     (simple query)
Example 2): Gene LMNA     Variant:c.45G>C    ID cDNA: NM_170707, protein variant: p.Gln16His
deliberately the protein variant is wrong, exactly it would be p.Gln15His
Example 3): Gene LMNA     variant: c.45A>C (deliberately, reference is wrong)    
Example 4): Gene LMNA     variant: c.45del ('FrameShift' and deliberately 'del' is not HGVS aligned )    

Genomic Release:
Data Input mRNA variant in HGVS format
   HGVS string:
         format 'c....etc')		  Gene:    AND/OR transcript ID:
Protein change
in hgvs p....etc (Only for control)		 The name of the gene or ID transcript (NM_..) is required
Note: the maximum length of the reference or variant sequence must be 250 nt