HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898713_4898716dup , CM000679.2:g.4898713_4898716dup | GRCh38 |
NC_000017.10:g.4802008_4802011dup , CM000679.1:g.4802008_4802011dup | GRCh37 |
NC_000017.9:g.4742787_4742790dup | NCBI36 |
NG_008029.2:g.9364_9367dup | |
NG_028005.1:g.70374_70377dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*24_*27dup MANE Select | ENSP00000497829.1:n.*24_*27dup | |
ENST00000649830.1:c.*142_*145dup | ENSP00000496907.1:n.*142_*145dup | |
ENST00000652550.1:n.1232_1235dup | ||
ENST00000293780.4:c.*24_*27dup | ENSP00000293780.4:n.*24_*27dup | |
ENST00000572438.1:n.1192_1195dup | ||
NM_000080.3:c.*24_*27dup | NP_000071.1:n.*24_*27dup | |
NM_000080.4:c.*24_*27dup MANE Select | NP_000071.1:n.*24_*27dup | |
XM_017024115.1:c.*24_*27dup | XP_016879604.1:n.*24_*27dup |