HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898128_4898147dup , CM000679.2:g.4898128_4898147dup | GRCh38 |
NC_000017.10:g.4801423_4801442dup , CM000679.1:g.4801423_4801442dup | GRCh37 |
NC_000017.9:g.4742202_4742221dup | NCBI36 |
NG_008029.2:g.9938_9957dup | |
NG_028005.1:g.69789_69808dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*598_*617dup MANE Select | ENSP00000497829.1:n.*598_*617dup | |
ENST00000649830.1:c.*716_*735dup | ENSP00000496907.1:n.*716_*735dup | |
ENST00000652550.1:n.1806_1825dup | ||
ENST00000293780.4:c.*598_*617dup | ENSP00000293780.4:n.*598_*617dup | |
ENST00000572438.1:n.1766_1785dup | ||
NM_000080.3:c.*598_*617dup | NP_000071.1:n.*598_*617dup | |
NM_000080.4:c.*598_*617dup MANE Select | NP_000071.1:n.*598_*617dup | |
XM_017024115.1:c.*598_*617dup | XP_016879604.1:n.*598_*617dup |