HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116846_19116847dup , CM000669.2:g.19116846_19116847dup | GRCh38 |
NC_000007.13:g.19156469_19156470dup , CM000669.1:g.19156469_19156470dup | GRCh37 |
NC_000007.12:g.19122994_19122995dup | NCBI36 |
NG_008114.1:g.5828_5829dup | |
NG_008114.2:g.5828_5829dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.477_478dup MANE Select | ENSP00000242261.5:p.Tyr160SerfsTer? | |
ENST00000242261.5:c.477_478dup | ENSP00000242261.5:p.Tyr160SerfsTer? | |
ENST00000354571.5:c.274_275dup | ||
ENST00000443687.5:c.80_81dup | ||
NM_000474.3:c.477_478dup | NP_000465.1:p.Tyr160SerfsTer? | |
XM_011515496.1:c.477_478dup | XP_011513798.1:p.Tyr160SerfsTer? | |
NR_149001.1:n.828_829dup | ||
NM_000474.4:c.477_478dup MANE Select | NP_000465.1:p.Tyr160SerfsTer? | |
NR_149001.2:n.792_793dup |