HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2317667del , CM000678.2:g.2317667del | GRCh38 |
NC_000016.9:g.2367668del , CM000678.1:g.2367668del | GRCh37 |
NC_000016.8:g.2307669del | NCBI36 |
NG_011790.1:g.28082del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301732.10:c.973del MANE Select | ENSP00000301732.5:p.Leu325CysfsTer7 | |
ENST00000301732.9:c.973del | ENSP00000301732.5:p.Leu325CysfsTer7 | |
ENST00000382381.7:c.973del | ENSP00000371818.3:p.Leu325CysfsTer7 | |
ENST00000563623.5:n.1536del | ||
NM_001089.2:c.973del | NP_001080.2:p.Leu325CysfsTer7 | |
NM_001089.3:c.973del MANE Select | NP_001080.2:p.Leu325CysfsTer7 |