HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24174721_24174725del , CM000668.2:g.24174721_24174725del | GRCh38 |
NC_000006.11:g.24174949_24174953del , CM000668.1:g.24174949_24174953del | GRCh37 |
NC_000006.10:g.24282928_24282932del | NCBI36 |
NG_012829.1:g.188328_188332del | |
NG_012829.2:g.213568_213572del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.*5_*9del MANE Select | ENSP00000367715.3:n.*5_*9del | |
ENST00000378450.6:c.*5_*9del | ENSP00000367711.3:n.*5_*9del | |
ENST00000378454.7:c.*5_*9del | ENSP00000367715.3:n.*5_*9del | |
NM_001195610.1:c.*5_*9del | NP_001182539.1:n.*5_*9del | |
NM_016356.4:c.*5_*9del | NP_057440.2:n.*5_*9del | |
NM_016356.5:c.*5_*9del MANE Select | NP_057440.2:n.*5_*9del | |
NM_001195610.2:c.*5_*9del | NP_001182539.1:n.*5_*9del |