HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68431321del , CM000663.2:g.68431321del | GRCh38 |
NC_000001.10:g.68897004del , CM000663.1:g.68897004del | GRCh37 |
NC_000001.9:g.68669592del | NCBI36 |
NG_008472.1:g.23639del | |
NG_008472.2:g.23639del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1299del MANE Select | ENSP00000262340.5:p.Tyr433Ter | |
ENST00000262340.5:c.1299del | ENSP00000262340.5:p.Tyr433Ter | |
NM_000329.2:c.1299del | NP_000320.1:p.Tyr433Ter | |
XM_017002027.1:c.1023del | XP_016857516.1:p.Tyr341Ter | |
NM_000329.3:c.1299del MANE Select | NP_000320.1:p.Tyr433Ter |