HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151010913dup , CM000669.2:g.151010913dup | GRCh38 |
NC_000007.13:g.150708001dup , CM000669.1:g.150708001dup | GRCh37 |
NC_000007.12:g.150338934dup | NCBI36 |
NG_011992.1:g.24855dup | |
NG_030317.1:g.18591dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297494.8:c.2911dup MANE Select | ENSP00000297494.3:p.Leu971ProfsTer? | |
ENST00000297494.7:c.2911dup | ENSP00000297494.3:p.Leu971ProfsTer? | |
ENST00000461406.5:c.2293dup | ENSP00000417143.1:p.Leu765ProfsTer? | |
ENST00000468293.5:n.394dup | ||
ENST00000475017.1:c.792dup | ||
ENST00000477227.1:n.290dup | ||
NM_000603.4:c.2911dup | NP_000594.2:p.Leu971ProfsTer? | |
NM_000603.5:c.2911dup MANE Select | NP_000594.2:p.Leu971ProfsTer? |