HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32104890del , CM000684.2:g.32104890del | GRCh38 |
NC_000022.10:g.32500877del , CM000684.1:g.32500877del | GRCh37 |
NC_000022.9:g.30830877del | NCBI36 |
NG_017045.1:g.66859del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266088.9:c.1770del MANE Select | ENSP00000266088.4:p.Ile590MetfsTer23 | |
ENST00000266088.8:c.1770del | ENSP00000266088.4:p.Ile590MetfsTer23 | |
ENST00000543737.2:c.1389del | ENSP00000444898.1:p.Ile463MetfsTer23 | |
NM_000343.3:c.1770del | NP_000334.1:p.Ile590MetfsTer23 | |
NM_001256314.1:c.1389del | NP_001243243.1:p.Ile463MetfsTer23 | |
XR_938173.1:n.591+1948del | ||
XR_938174.1:n.486+14965del | ||
NM_000343.4:c.1770del MANE Select | NP_000334.1:p.Ile590MetfsTer23 | |
NM_001256314.2:c.1389del | NP_001243243.1:p.Ile463MetfsTer23 |