HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003918_47003931del , CM000681.2:g.47003918_47003931del | GRCh38 |
NC_000019.9:g.47507175_47507188del , CM000681.1:g.47507175_47507188del | GRCh37 |
NC_000019.8:g.52199015_52199028del | NCBI36 |
NG_047014.1:g.90352_90365del | |
NG_047014.2:g.147922_147935del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7730_7743del | ENSP00000385720.2:n.7730_7743del | |
ENST00000672722.1:c.*3230_*3243del MANE Select | ENSP00000500409.1:n.*3230_*3243del | |
ENST00000404338.7:c.7730_7743del | ENSP00000385720.2:n.7730_7743del | |
ENST00000614079.1:c.7307_7320del | ENSP00000483730.1:n.7307_7320del | |
NM_004491.4:c.7730_7743del | NP_004482.4:n.7730_7743del | |
NM_004491.5:c.*3230_*3243del MANE Select | NP_004482.4:n.*3230_*3243del |