HGVS | Genome Assembly |
---|---|
NC_000013.11:g.21701739_21701740dup , CM000675.2:g.21701739_21701740dup | GRCh38 |
NC_000013.10:g.22275878_22275879dup , CM000675.1:g.22275878_22275879dup | GRCh37 |
NC_000013.9:g.21173878_21173879dup | NCBI36 |
NG_016272.1:g.35664_35665dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382353.6:c.*304_*305dup MANE Select | ENSP00000371790.5:n.*304_*305dup | |
ENST00000382353.5:c.*304_*305dup | ENSP00000371790.5:n.*304_*305dup | |
ENST00000478546.1:n.691_692dup | ||
NM_002010.2:c.*304_*305dup | NP_002001.1:n.*304_*305dup | |
XM_011534996.1:c.*304_*305dup | XP_011533298.1:n.*304_*305dup | |
XM_011534996.2:c.*304_*305dup | XP_011533298.1:n.*304_*305dup | |
NM_002010.3:c.*304_*305dup MANE Select | NP_002001.1:n.*304_*305dup |