HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586410_41586413del , CM000679.2:g.41586410_41586413del | GRCh38 |
NC_000017.10:g.39742662_39742665del , CM000679.1:g.39742662_39742665del | GRCh37 |
NC_000017.9:g.36996188_36996191del | NCBI36 |
NG_008624.1:g.5485_5488del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.424_427del MANE Select | ENSP00000167586.6:p.Asp142TrpfsTer3 | |
ENST00000167586.6:c.424_427del | ENSP00000167586.6:p.Asp142TrpfsTer3 | |
NM_000526.4:c.424_427del | NP_000517.2:p.Asp142TrpfsTer3 | |
NM_000526.5:c.424_427del MANE Select | NP_000517.3:p.Asp142TrpfsTer3 |