HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003952_47003953del , CM000681.2:g.47003952_47003953del | GRCh38 |
NC_000019.9:g.47507209_47507210del , CM000681.1:g.47507209_47507210del | GRCh37 |
NC_000019.8:g.52199049_52199050del | NCBI36 |
NG_047014.1:g.90386_90387del | |
NG_047014.2:g.147956_147957del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7764_7765del | ENSP00000385720.2:n.7764_7765del | |
ENST00000672722.1:c.*3264_*3265del MANE Select | ENSP00000500409.1:n.*3264_*3265del | |
ENST00000404338.7:c.7764_7765del | ENSP00000385720.2:n.7764_7765del | |
ENST00000614079.1:c.7341_7342del | ENSP00000483730.1:n.7341_7342del | |
NM_004491.4:c.7764_7765del | NP_004482.4:n.7764_7765del | |
NM_004491.5:c.*3264_*3265del MANE Select | NP_004482.4:n.*3264_*3265del |