HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80275110del , CM000672.2:g.80275110del | GRCh38 |
NC_000010.10:g.82034866del , CM000672.1:g.82034866del | GRCh37 |
NC_000010.9:g.82024846del | NCBI36 |
NG_008083.1:g.19569del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.858del MANE Select | ENSP00000361287.3:p.Tyr287ThrfsTer4 | |
ENST00000372213.7:c.858del | ENSP00000361287.3:p.Tyr287ThrfsTer4 | |
ENST00000480845.1:n.90del | ||
ENST00000485270.5:n.370del | ||
NM_000429.2:c.858del | NP_000420.1:p.Tyr287ThrfsTer4 | |
XM_005269842.3:c.858del | XP_005269899.1:p.Tyr287ThrfsTer4 | |
XM_005269843.3:c.735del | XP_005269900.1:p.Tyr246ThrfsTer4 | |
NM_000429.3:c.858del MANE Select | NP_000420.1:p.Tyr287ThrfsTer4 |