HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898111_4898114del , CM000679.2:g.4898111_4898114del | GRCh38 |
NC_000017.10:g.4801406_4801409del , CM000679.1:g.4801406_4801409del | GRCh37 |
NC_000017.9:g.4742185_4742188del | NCBI36 |
NG_008029.2:g.9966_9969del | |
NG_028005.1:g.69772_69775del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*626_*629del MANE Select | ENSP00000497829.1:n.*626_*629del | |
ENST00000649830.1:c.*744_*747del | ENSP00000496907.1:n.*744_*747del | |
ENST00000652550.1:n.1834_1837del | ||
ENST00000293780.4:c.*626_*629del | ENSP00000293780.4:n.*626_*629del | |
ENST00000572438.1:n.1794_1797del | ||
NM_000080.3:c.*626_*629del | NP_000071.1:n.*626_*629del | |
NM_000080.4:c.*626_*629del MANE Select | NP_000071.1:n.*626_*629del | |
XM_017024115.1:c.*626_*629del | XP_016879604.1:n.*626_*629del |