HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178162del , CM000668.2:g.24178162del | GRCh38 |
NC_000006.11:g.24178390del , CM000668.1:g.24178390del | GRCh37 |
NC_000006.10:g.24286369del | NCBI36 |
NG_012829.1:g.184892del | |
NG_012829.2:g.210132del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1326+169del MANE Select | ENSP00000367715.3:n.1326+169del | |
ENST00000378450.6:c.585+169del | ENSP00000367711.3:n.585+169del | |
ENST00000378454.7:c.1326+169del | ENSP00000367715.3:n.1326+169del | |
NM_001195610.1:c.1326+169del | NP_001182539.1:n.1326+169del | |
NM_016356.4:c.1326+169del | NP_057440.2:n.1326+169del | |
NM_016356.5:c.1326+169del MANE Select | NP_057440.2:n.1326+169del | |
NM_001195610.2:c.1326+169del | NP_001182539.1:n.1326+169del |