HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443909_32443911del , CM000668.2:g.32443909_32443911del | GRCh38 |
NC_000006.11:g.32411686_32411688del , CM000668.1:g.32411686_32411688del | GRCh37 |
NC_000006.10:g.32519664_32519666del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.764_*1del MANE Select | ENSP00000378786.2:n.[c.764_*1del;Ter255CysextTer5] | |
ENST00000374982.5:c.689_*1del | ENSP00000364121.5:n.[c.689_*1del;Ter230CysextTer5] | |
ENST00000395388.6:c.764_*1del | ENSP00000378786.2:n.[c.764_*1del;Ter255CysextTer5] | |
NM_019111.4:c.764_*1del | NP_061984.2:n.[c.764_*1del;Ter255CysextTer5] | |
NM_019111.5:c.764_*1del MANE Select | NP_061984.2:n.[c.764_*1del;Ter255CysextTer5] |