HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530157_7530233del , CM000681.2:g.7530157_7530233del | GRCh38 |
NC_000019.9:g.7595043_7595119del , CM000681.1:g.7595043_7595119del | GRCh37 |
NC_000019.8:g.7501043_7501119del | NCBI36 |
NG_013374.1:g.1006_1082del | |
NG_015806.1:g.12548_12624del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1360-129_1360-53del MANE Select | ENSP00000264079.5:n.1360-129_1360-53del | |
ENST00000264079.10:c.1360-129_1360-53del | ENSP00000264079.5:n.1360-129_1360-53del | |
ENST00000394321.9:n.1675-129_1675-53del | ||
ENST00000594692.1:n.356-129_356-53del | ||
ENST00000595860.5:n.543-129_543-53del | ||
ENST00000599334.1:c.237-278_237-202del | ||
NM_020533.2:c.1360-129_1360-53del | NP_065394.1:n.1360-129_1360-53del | |
NM_020533.3:c.1360-129_1360-53del MANE Select | NP_065394.1:n.1360-129_1360-53del |