HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123595del , CM000679.2:g.72123595del | GRCh38 |
NC_000017.10:g.70119736del , CM000679.1:g.70119736del | GRCh37 |
NC_000017.9:g.67631331del | NCBI36 |
NG_012490.1:g.7576del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000245479.3:c.738del MANE Select | ENSP00000245479.2:p.Gln246HisfsTer7 | |
ENST00000245479.2:c.738del | ENSP00000245479.2:p.Gln246HisfsTer7 | |
NM_000346.3:c.738del | NP_000337.1:p.Gln246HisfsTer7 | |
NM_000346.4:c.738del MANE Select | NP_000337.1:p.Gln246HisfsTer7 |