HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57566194_57566197dup , CM000682.2:g.57566194_57566197dup | GRCh38 |
NC_000020.10:g.56141250_56141253dup , CM000682.1:g.56141250_56141253dup | GRCh37 |
NC_000020.9:g.55574656_55574659dup | NCBI36 |
NG_008205.1:g.10114_10117dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.*390_*393dup MANE Select | ENSP00000319814.4:n.*390_*393dup | |
ENST00000319441.5:c.*390_*393dup | ENSP00000319814.4:n.*390_*393dup | |
ENST00000467047.1:n.4901_4904dup | ||
NM_002591.3:c.*390_*393dup | NP_002582.3:n.*390_*393dup | |
XM_011528839.1:c.*390_*393dup | XP_011527141.1:n.*390_*393dup | |
XM_024451888.1:c.*390_*393dup | XP_024307656.1:n.*390_*393dup | |
NM_002591.4:c.*390_*393dup MANE Select | NP_002582.3:n.*390_*393dup |