HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225558_3225559del , CM000668.2:g.3225558_3225559del | GRCh38 |
NC_000006.11:g.3225792_3225793del , CM000668.1:g.3225792_3225793del | GRCh37 |
NC_000006.10:g.3170791_3170792del | NCBI36 |
NG_016715.1:g.7178_7179del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259818.8:c.532_533del MANE Select | ENSP00000259818.6:p.Thr178GlyfsTer20 | |
ENST00000680070.1:n.1462_1463del | ||
ENST00000681707.1:n.1359_1360del | ||
ENST00000681757.1:n.837_838del | ||
ENST00000259818.7:c.532_533del | ENSP00000259818.6:p.Thr178GlyfsTer20 | |
ENST00000473006.1:n.649_650del | ||
NM_178012.4:c.532_533del | NP_821080.1:p.Thr178GlyfsTer20 | |
XM_011514571.1:c.316_317del | XP_011512873.1:p.Thr106GlyfsTer20 | |
NM_178012.5:c.532_533del MANE Select | NP_821080.1:p.Thr178GlyfsTer20 |