HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225741del , CM000668.2:g.3225741del | GRCh38 |
NC_000006.11:g.3225975del , CM000668.1:g.3225975del | GRCh37 |
NC_000006.10:g.3170974del | NCBI36 |
NG_016715.1:g.6995del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.349del MANE Select | ENSP00000259818.6:p.Leu117TrpfsTer4 | |
ENST00000680070.1:n.1279del | ||
ENST00000681707.1:n.1176del | ||
ENST00000681757.1:n.654del | ||
ENST00000259818.7:c.349del | ENSP00000259818.6:p.Leu117TrpfsTer4 | |
ENST00000473006.1:n.466del | ||
NM_178012.4:c.349del | NP_821080.1:p.Leu117TrpfsTer4 | |
XM_011514571.1:c.133del | XP_011512873.1:p.Leu45TrpfsTer4 | |
NM_178012.5:c.349del MANE Select | NP_821080.1:p.Leu117TrpfsTer4 |