HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565556_57565571del , CM000682.2:g.57565556_57565571del | GRCh38 |
NC_000020.10:g.56140612_56140627del , CM000682.1:g.56140612_56140627del | GRCh37 |
NC_000020.9:g.55574018_55574033del | NCBI36 |
NG_008205.1:g.9476_9491del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1621_1636del MANE Select | ENSP00000319814.4:p.Phe541GlufsTer10 | |
ENST00000319441.5:c.1621_1636del | ENSP00000319814.4:p.Phe541GlufsTer10 | |
ENST00000467047.1:n.4263_4278del | ||
NM_002591.3:c.1621_1636del | NP_002582.3:p.Phe541GlufsTer10 | |
XM_011528839.1:c.1225_1240del | XP_011527141.1:p.Phe409GlufsTer10 | |
XM_024451888.1:c.1225_1240del | XP_024307656.1:p.Phe409GlufsTer10 | |
NM_002591.4:c.1621_1636del MANE Select | NP_002582.3:p.Phe541GlufsTer10 |