HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898119_4898172del , CM000679.2:g.4898119_4898172del | GRCh38 |
NC_000017.10:g.4801414_4801467del , CM000679.1:g.4801414_4801467del | GRCh37 |
NC_000017.9:g.4742193_4742246del | NCBI36 |
NG_008029.2:g.9911_9964del | |
NG_028005.1:g.69780_69833del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*571_*624del MANE Select | ENSP00000497829.1:n.*571_*624del | |
ENST00000649830.1:c.*689_*742del | ENSP00000496907.1:n.*689_*742del | |
ENST00000652550.1:n.1779_1832del | ||
ENST00000293780.4:c.*571_*624del | ENSP00000293780.4:n.*571_*624del | |
ENST00000572438.1:n.1739_1792del | ||
NM_000080.3:c.*571_*624del | NP_000071.1:n.*571_*624del | |
NM_000080.4:c.*571_*624del MANE Select | NP_000071.1:n.*571_*624del | |
XM_017024115.1:c.*571_*624del | XP_016879604.1:n.*571_*624del |