HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003814_47003818del , CM000681.2:g.47003814_47003818del | GRCh38 |
NC_000019.9:g.47507071_47507075del , CM000681.1:g.47507071_47507075del | GRCh37 |
NC_000019.8:g.52198911_52198915del | NCBI36 |
NG_047014.1:g.90248_90252del | |
NG_047014.2:g.147818_147822del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7626_7630del | ENSP00000385720.2:n.7626_7630del | |
ENST00000672722.1:c.*3126_*3130del MANE Select | ENSP00000500409.1:n.*3126_*3130del | |
ENST00000404338.7:c.7626_7630del | ENSP00000385720.2:n.7626_7630del | |
ENST00000614079.1:c.7203_7207del | ENSP00000483730.1:n.7203_7207del | |
NM_004491.4:c.7626_7630del | NP_004482.4:n.7626_7630del | |
NM_004491.5:c.*3126_*3130del MANE Select | NP_004482.4:n.*3126_*3130del |