HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898134_4898135del , CM000679.2:g.4898134_4898135del | GRCh38 |
NC_000017.10:g.4801429_4801430del , CM000679.1:g.4801429_4801430del | GRCh37 |
NC_000017.9:g.4742208_4742209del | NCBI36 |
NG_008029.2:g.9941_9942del | |
NG_028005.1:g.69795_69796del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*601_*602del MANE Select | ENSP00000497829.1:n.*601_*602del | |
ENST00000649830.1:c.*719_*720del | ENSP00000496907.1:n.*719_*720del | |
ENST00000652550.1:n.1809_1810del | ||
ENST00000293780.4:c.*601_*602del | ENSP00000293780.4:n.*601_*602del | |
ENST00000572438.1:n.1769_1770del | ||
NM_000080.3:c.*601_*602del | NP_000071.1:n.*601_*602del | |
NM_000080.4:c.*601_*602del MANE Select | NP_000071.1:n.*601_*602del | |
XM_017024115.1:c.*601_*602del | XP_016879604.1:n.*601_*602del |