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. 2015 Aug 5;17(3):505–516. doi: 10.1093/bib/bbv063

Table 2.

Representation of different genetic variant categories with variant functions at proteins level in BEL (2.0V)

Variant categories Variant() function in protein
Reference allele p(HGNC:CFTR, var(=))
Unspecified variant p(HGNC:CFTR, var(?))
Substitution variant p(REF:NP_000483.3, var(p.Gly576Ala))
Deletion variant p(REF:NP_000483.3, var(p.Phe508del))
Frameshift variant (HGVS short description) p(REF:NP_000483.3, var(p.Thr1220Lysfs))
Frameshift variant (HGVS long description) p(REF:NP_000483.3, var(p.Thr1220Lysfs*7))