HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862906_4862907del , CM000666.2:g.4862906_4862907del | GRCh38 |
NC_000004.11:g.4864633_4864634del , CM000666.1:g.4864633_4864634del | GRCh37 |
NC_000004.10:g.4915534_4915535del | NCBI36 |
NG_008121.1:g.8242_8243del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.675_676del MANE Select | ENSP00000372170.4:p.Lys226GlyfsTer? | |
ENST00000382723.4:c.675_676del | ENSP00000372170.4:p.Lys226GlyfsTer? | |
ENST00000468421.1:n.387_388del | ||
NM_002448.3:c.675_676del MANE Select | NP_002439.2:p.Lys226GlyfsTer? |