HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94780650del , CM000672.2:g.94780650del | GRCh38 |
NC_000010.10:g.96540407del , CM000672.1:g.96540407del | GRCh37 |
NC_000010.9:g.96530397del | NCBI36 |
NG_008384.2:g.22945del | |
NG_008384.3:g.22970del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.633del MANE Select | ENSP00000360372.3:p.Trp212GlyfsTer? | |
ENST00000645461.1:n.1686del | ||
ENST00000371321.7:c.633del | ENSP00000360372.3:p.Trp212GlyfsTer? | |
ENST00000464755.1:c.1396del | ENSP00000483243.1:n.1396del | |
NM_000769.2:c.633del | NP_000760.1:p.Trp212GlyfsTer? | |
NM_000769.4:c.633del MANE Select | NP_000760.1:p.Trp212GlyfsTer? |