HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38403648del , CM000685.2:g.38403648del | GRCh38 |
NC_000023.10:g.38262901del , CM000685.1:g.38262901del | GRCh37 |
NC_000023.9:g.38147845del | NCBI36 |
NG_008471.1:g.56166del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.571del MANE Select | ENSP00000039007.4:p.Leu191SerfsTer15 | |
ENST00000643344.1:c.*321del | ENSP00000496606.1:n.*321del | |
ENST00000039007.4:c.571del | ENSP00000039007.4:p.Leu191SerfsTer15 | |
ENST00000465127.1:c.172-262473del | ENSP00000417050.1:n.172-262473del | |
ENST00000488812.1:n.608del | ||
NM_000531.5:c.571del | NP_000522.3:p.Leu191SerfsTer15 | |
XM_017029556.1:c.571del | XP_016885045.1:p.Leu191SerfsTer15 | |
NM_000531.6:c.571del MANE Select | NP_000522.3:p.Leu191SerfsTer15 |