HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123567del , CM000679.2:g.72123567del | GRCh38 |
NC_000017.10:g.70119708del , CM000679.1:g.70119708del | GRCh37 |
NC_000017.9:g.67631303del | NCBI36 |
NG_012490.1:g.7548del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.710del MANE Select | ENSP00000245479.2:p.Pro237HisfsTer16 | |
ENST00000245479.2:c.710del | ENSP00000245479.2:p.Pro237HisfsTer16 | |
NM_000346.3:c.710del | NP_000337.1:p.Pro237HisfsTer16 | |
NM_000346.4:c.710del MANE Select | NP_000337.1:p.Pro237HisfsTer16 |