HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898128_4898147del , CM000679.2:g.4898128_4898147del | GRCh38 |
NC_000017.10:g.4801423_4801442del , CM000679.1:g.4801423_4801442del | GRCh37 |
NC_000017.9:g.4742202_4742221del | NCBI36 |
NG_008029.2:g.9938_9957del | |
NG_028005.1:g.69789_69808del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*598_*617del MANE Select | ENSP00000497829.1:n.*598_*617del | |
ENST00000649830.1:c.*716_*735del | ENSP00000496907.1:n.*716_*735del | |
ENST00000652550.1:n.1806_1825del | ||
ENST00000293780.4:c.*598_*617del | ENSP00000293780.4:n.*598_*617del | |
ENST00000572438.1:n.1766_1785del | ||
NM_000080.3:c.*598_*617del | NP_000071.1:n.*598_*617del | |
NM_000080.4:c.*598_*617del MANE Select | NP_000071.1:n.*598_*617del | |
XM_017024115.1:c.*598_*617del | XP_016879604.1:n.*598_*617del |