HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68670268del , CM000666.2:g.68670268del | GRCh38 |
NC_000004.11:g.69535986del , CM000666.1:g.69535986del | GRCh37 |
NC_000004.10:g.69218581del | NCBI36 |
NG_052676.1:g.5510del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000338206.6:c.352del MANE Select | ENSP00000341045.5:p.Trp118GlyfsTer16 | |
ENST00000338206.5:c.352del | ENSP00000341045.5:p.Trp118GlyfsTer16 | |
ENST00000616841.4:c.352del | ENSP00000482004.1:p.Trp118GlyfsTer16 | |
NM_001076.3:c.352del | NP_001067.2:p.Trp118GlyfsTer16 | |
NM_001076.4:c.352del MANE Select | NP_001067.2:p.Trp118GlyfsTer16 |