HGVS | Genome Assembly |
---|---|
NC_000016.10:g.22877829_22877832dup , CM000678.2:g.22877829_22877832dup | GRCh38 |
NC_000016.9:g.22889150_22889153dup , CM000678.1:g.22889150_22889153dup | GRCh37 |
NC_000016.8:g.22796651_22796654dup | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261374.4:c.486-37115_486-37112dup MANE Select | ENSP00000261374.3:n.486-37115_486-37112du... | |
ENST00000261374.3:c.486-37115_486-37112dup | ENSP00000261374.3:n.486-37115_486-37112du... | |
ENST00000473392.1:c.*287+23048_*287+23051dup | ENSP00000454505.1:n.*287+23048_*287+23051... | |
NM_006043.1:c.486-37115_486-37112dup | NP_006034.1:n.486-37115_486-37112dup | |
NM_006043.2:c.486-37115_486-37112dup MANE Select | NP_006034.1:n.486-37115_486-37112dup |