HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060231del , CM000665.2:g.184060231del | GRCh38 |
NC_000003.11:g.183778019del , CM000665.1:g.183778019del | GRCh37 |
NC_000003.10:g.185260713del | NCBI36 |
NG_012749.1:g.12185del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318351.2:c.1223del MANE Select | ENSP00000322617.1:p.Lys408ArgfsTer4 | |
ENST00000318351.1:c.1223del | ENSP00000322617.1:p.Lys408ArgfsTer4 | |
NM_130770.2:c.1223del | NP_570126.2:p.Lys408ArgfsTer4 | |
NM_130770.3:c.1223del MANE Select | NP_570126.2:p.Lys408ArgfsTer4 |