HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151011009_151011011del , CM000669.2:g.151011009_151011011del | GRCh38 |
NC_000007.13:g.150708097_150708099del , CM000669.1:g.150708097_150708099del | GRCh37 |
NC_000007.12:g.150339030_150339032del | NCBI36 |
NG_011992.1:g.24951_24953del | |
NG_030317.1:g.18492_18494del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297494.8:c.2984+23_2984+25del MANE Select | ENSP00000297494.3:n.2984+23_2984+25del | |
ENST00000297494.7:c.2984+23_2984+25del | ENSP00000297494.3:n.2984+23_2984+25del | |
ENST00000461406.5:c.2366+23_2366+25del | ENSP00000417143.1:n.2366+23_2366+25del | |
ENST00000468293.5:n.467+23_467+25del | ||
ENST00000475017.1:c.865+23_865+25del | ||
ENST00000477227.1:n.363+23_363+25del | ||
NM_000603.4:c.2984+23_2984+25del | NP_000594.2:n.2984+23_2984+25del | |
NM_000603.5:c.2984+23_2984+25del MANE Select | NP_000594.2:n.2984+23_2984+25del |