HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38074561del , CM000664.2:g.38074561del | GRCh38 |
NC_000002.11:g.38301704del , CM000664.1:g.38301704del | GRCh37 |
NC_000002.10:g.38155208del | NCBI36 |
NG_008386.2:g.6541del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.828del | ENSP00000478839.2:p.Leu277Ter | |
ENST00000610745.5:c.828del MANE Select | ENSP00000478561.1:p.Leu277Ter | |
ENST00000494864.1:c.-70-3251del | ENSP00000479876.1:n.-70-3251del | |
ENST00000610745.4:c.828del | ENSP00000478561.1:p.Leu277Ter | |
ENST00000613082.1:n.376-153del | ||
ENST00000614273.1:c.828del | ENSP00000483678.1:p.Leu277Ter | |
NM_000104.3:c.828del | NP_000095.2:p.Leu277Ter | |
NM_000104.4:c.828del MANE Select | NP_000095.2:p.Leu277Ter |