HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586489_41586491del , CM000679.2:g.41586489_41586491del | GRCh38 |
NC_000017.10:g.39742741_39742743del , CM000679.1:g.39742741_39742743del | GRCh37 |
NC_000017.9:g.36996267_36996269del | NCBI36 |
NG_008624.1:g.5407_5409del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.346_348del MANE Select | ENSP00000167586.6:p.Lys116del | |
ENST00000167586.6:c.346_348del | ENSP00000167586.6:p.Lys116del | |
NM_000526.4:c.346_348del | NP_000517.2:p.Lys116del | |
NM_000526.5:c.346_348del MANE Select | NP_000517.3:p.Lys116del |