HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154992929_154992933del , CM000685.2:g.154992929_154992933del | GRCh38 |
NC_000023.10:g.154221204_154221208del , CM000685.1:g.154221204_154221208del | GRCh37 |
NC_000023.9:g.153874398_153874402del | NCBI36 |
NG_011403.1:g.34791_34795del | |
NG_011403.2:g.34791_34795del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.601+3_601+7del MANE Select | ENSP00000353393.4:n.601+3_601+7del | |
ENST00000647125.1:c.*387+3_*387+7del | ENSP00000496062.1:n.*387+3_*387+7del | |
ENST00000360256.8:c.601+3_601+7del | ENSP00000353393.4:n.601+3_601+7del | |
ENST00000423959.5:c.496+3_496+7del | ENSP00000409446.1:n.496+3_496+7del | |
NM_000132.3:c.601+3_601+7del | NP_000123.1:n.601+3_601+7del | |
XM_011531126.1:c.496+3_496+7del | XP_011529428.1:n.496+3_496+7del | |
NM_000132.4:c.601+3_601+7del MANE Select | NP_000123.1:n.601+3_601+7del |