HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862913_4862914del , CM000666.2:g.4862913_4862914del | GRCh38 |
NC_000004.11:g.4864640_4864641del , CM000666.1:g.4864640_4864641del | GRCh37 |
NC_000004.10:g.4915541_4915542del | NCBI36 |
NG_008121.1:g.8249_8250del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.682_683del MANE Select | ENSP00000372170.4:p.Lys228GlufsTer? | |
ENST00000382723.4:c.682_683del | ENSP00000372170.4:p.Lys228GlufsTer? | |
ENST00000468421.1:n.394_395del | ||
NM_002448.3:c.682_683del MANE Select | NP_002439.2:p.Lys228GlufsTer? |