HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128304869del , CM000667.2:g.128304869del | GRCh38 |
NC_000005.9:g.127640561del , CM000667.1:g.127640561del | GRCh37 |
NC_000005.8:g.127668460del | NCBI36 |
NG_008750.1:g.238175del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703783.1:n.2584+88del | ||
ENST00000703785.1:n.2503+88del | ||
ENST00000262464.9:c.5800+88del MANE Select | ENSP00000262464.4:n.5800+88del | |
ENST00000262464.8:c.5800+88del | ENSP00000262464.4:n.5800+88del | |
ENST00000508053.5:c.5800+88del | ENSP00000424571.1:n.5800+88del | |
ENST00000619499.4:c.5797+88del | ENSP00000482132.1:n.5797+88del | |
NM_001999.3:c.5800+88del | NP_001990.2:n.5800+88del | |
XM_017009228.2:c.5647+88del | XP_016864717.1:n.5647+88del | |
NM_001999.4:c.5800+88del MANE Select | NP_001990.2:n.5800+88del |