HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225636_3225639del , CM000668.2:g.3225636_3225639del | GRCh38 |
NC_000006.11:g.3225870_3225873del , CM000668.1:g.3225870_3225873del | GRCh37 |
NC_000006.10:g.3170869_3170872del | NCBI36 |
NG_016715.1:g.7096_7099del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.450_453del MANE Select | ENSP00000259818.6:p.Leu151SerfsTer13 | |
ENST00000680070.1:n.1380_1383del | ||
ENST00000681707.1:n.1277_1280del | ||
ENST00000681757.1:n.755_758del | ||
ENST00000259818.7:c.450_453del | ENSP00000259818.6:p.Leu151SerfsTer13 | |
ENST00000473006.1:n.567_570del | ||
NM_178012.4:c.450_453del | NP_821080.1:p.Leu151SerfsTer13 | |
XM_011514571.1:c.234_237del | XP_011512873.1:p.Leu79SerfsTer13 | |
NM_178012.5:c.450_453del MANE Select | NP_821080.1:p.Leu151SerfsTer13 |