HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42911453_42911455del , CM000679.2:g.42911453_42911455del | GRCh38 |
NC_000017.10:g.41063470_41063472del , CM000679.1:g.41063470_41063472del | GRCh37 |
NC_000017.9:g.38316996_38316998del | NCBI36 |
NG_011808.1:g.15656_15658del , LRG_147:g.15656_15658del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.*27_*29del MANE Select | ENSP00000253801.1:n.*27_*29del | |
ENST00000253801.6:c.*27_*29del | ENSP00000253801.1:n.*27_*29del | |
ENST00000585489.1:c.*493_*495del | ENSP00000466202.1:n.*493_*495del | |
NM_000151.3:c.*27_*29del | NP_000142.2:n.*27_*29del | |
NM_001270397.1:c.*493_*495del | NP_001257326.1:n.*493_*495del | |
NM_000151.4:c.*27_*29del MANE Select | NP_000142.2:n.*27_*29del | |
NM_001270397.2:c.*493_*495del | NP_001257326.1:n.*493_*495del |