HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2274689_2274690del , CM000681.2:g.2274689_2274690del | GRCh38 |
NC_000019.9:g.2274688_2274689del , CM000681.1:g.2274688_2274689del | GRCh37 |
NC_000019.8:g.2225688_2225689del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000342063.5:c.*991_*992del MANE Select | ENSP00000345102.3:n.*991_*992del | |
ENST00000342063.4:c.*991_*992del | ENSP00000345102.3:n.*991_*992del | |
ENST00000621615.1:c.146+4945_146+4946del | ENSP00000481965.1:n.146+4945_146+4946del | |
NM_198532.2:c.*991_*992del | NP_940934.1:n.*991_*992del | |
NM_198532.3:c.*991_*992del MANE Select | NP_940934.1:n.*991_*992del |