HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116853_19116857del , CM000669.2:g.19116853_19116857del | GRCh38 |
NC_000007.13:g.19156476_19156480del , CM000669.1:g.19156476_19156480del | GRCh37 |
NC_000007.12:g.19123001_19123005del | NCBI36 |
NG_008114.1:g.5816_5820del | |
NG_008114.2:g.5816_5820del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242261.6:c.465_469del MANE Select | ENSP00000242261.5:p.Tyr155Ter | |
ENST00000242261.5:c.465_469del | ENSP00000242261.5:p.Tyr155Ter | |
ENST00000354571.5:c.262_266del | ||
ENST00000443687.5:c.68_72del | ||
NM_000474.3:c.465_469del | NP_000465.1:p.Tyr155Ter | |
XM_011515496.1:c.465_469del | XP_011513798.1:p.Tyr155Ter | |
NR_149001.1:n.816_820del | ||
NM_000474.4:c.465_469del MANE Select | NP_000465.1:p.Tyr155Ter | |
NR_149001.2:n.780_784del |