HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151011014_151011025del , CM000669.2:g.151011014_151011025del | GRCh38 |
NC_000007.13:g.150708102_150708113del , CM000669.1:g.150708102_150708113del | GRCh37 |
NC_000007.12:g.150339035_150339046del | NCBI36 |
NG_011992.1:g.24956_24967del | |
NG_030317.1:g.18478_18489del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297494.8:c.2984+28_2984+39del MANE Select | ENSP00000297494.3:n.2984+28_2984+39del | |
ENST00000297494.7:c.2984+28_2984+39del | ENSP00000297494.3:n.2984+28_2984+39del | |
ENST00000461406.5:c.2366+28_2366+39del | ENSP00000417143.1:n.2366+28_2366+39del | |
ENST00000468293.5:n.467+28_467+39del | ||
ENST00000475017.1:c.865+28_865+39del | ||
ENST00000477227.1:n.363+28_363+39del | ||
NM_000603.4:c.2984+28_2984+39del | NP_000594.2:n.2984+28_2984+39del | |
NM_000603.5:c.2984+28_2984+39del MANE Select | NP_000594.2:n.2984+28_2984+39del |