HGVS Recommendations for the Description of Sequence Variants: 2016 Update

http://varnomen.hgvs.org/recommendations/, 描述规则基本格式为：[identifier]:[levels].[Description of variant]

[identifier]

• only public files from NCBI or EBI are accepted as reference sequence files
• a reference sequence file identifier should contain both the accession and version number
• specifications to a specific annotated segment of a reference sequence can be given in parentheses directly after the reference sequence
• the reference sequence used must contain the variant residue described

其他具体要求描述可以参考：http://varnomen.hgvs.org/bg-material/refseq/

[levels]

Reference Sequence Types主要有g, c, n, m, r, p六种，其中c, p, g使用最多

[Description of variant]

• 替换
  • cDNA: c.255C>A
  • protein: p.Trp24Cys, p.Trp24*, p.Cys188=
• 缺失
  • cDNA: c.19_21del
  • protein: p.Lys23_Val25del
• 插入
  • cDNA: c.240_241insAGG
  • protein: p.Lys2_Gly3insGlnSerLys
• 重复
  • cDNA: c.20_23dup
  • protein: p.Ser6dup
• 插入缺失
  • cDNA: c.142_144delinsTGG
  • protein: p.Arg48Trp
• 移码突变
  • protein: p.Arg97fs

Notes

• 坐标系统为 1-based,
• 描述核酸和蛋白变异的差别，g.123A>G 和 p.Trp26Ter
• 可使用在线网站 mutalyzer 检验变异描述是否合规，也可进行c -> g坐标转换等等

Ref:

• DOI: 10.1002/humu.22981
• http://varnomen.hgvs.org/recommendations/general