HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624135dup , CM000679.2:g.41624135dup | GRCh38 |
NC_000017.10:g.39780387dup , CM000679.1:g.39780387dup | GRCh37 |
NC_000017.9:g.37033913dup | NCBI36 |
NG_008625.1:g.5499dup | |
NG_009090.2:g.167581dup , LRG_401:g.167581dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000311208.13:c.378dup MANE Select | ENSP00000308452.8:p.Pro127AlafsTer4 | |
ENST00000311208.12:c.378dup | ENSP00000308452.8:p.Pro127AlafsTer4 | |
ENST00000463128.5:c.-238dup | ENSP00000468672.1:n.-238dup | |
ENST00000491673.1:n.444dup | ||
ENST00000493253.5:n.165dup | ||
ENST00000540235.5:c.129dup | ENSP00000441751.2:p.Pro44AlafsTer4 | |
ENST00000577817.3:c.333dup | ENSP00000467418.1:p.Pro112AlafsTer4 | |
NM_000422.2:c.378dup | NP_000413.1:p.Pro127AlafsTer4 | |
NM_000422.3:c.378dup MANE Select | NP_000413.1:p.Pro127AlafsTer4 |