HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898113_4898114del , CM000679.2:g.4898113_4898114del | GRCh38 |
NC_000017.10:g.4801408_4801409del , CM000679.1:g.4801408_4801409del | GRCh37 |
NC_000017.9:g.4742187_4742188del | NCBI36 |
NG_008029.2:g.9968_9969del | |
NG_028005.1:g.69774_69775del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*628_*629del MANE Select | ENSP00000497829.1:n.*628_*629del | |
ENST00000649830.1:c.*746_*747del | ENSP00000496907.1:n.*746_*747del | |
ENST00000652550.1:n.1836_1837del | ||
ENST00000293780.4:c.*628_*629del | ENSP00000293780.4:n.*628_*629del | |
ENST00000572438.1:n.1796_1797del | ||
NM_000080.3:c.*628_*629del | NP_000071.1:n.*628_*629del | |
NM_000080.4:c.*628_*629del MANE Select | NP_000071.1:n.*628_*629del | |
XM_017024115.1:c.*628_*629del | XP_016879604.1:n.*628_*629del |