HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003918_47003919del , CM000681.2:g.47003918_47003919del | GRCh38 |
NC_000019.9:g.47507175_47507176del , CM000681.1:g.47507175_47507176del | GRCh37 |
NC_000019.8:g.52199015_52199016del | NCBI36 |
NG_047014.1:g.90352_90353del | |
NG_047014.2:g.147922_147923del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7730_7731del | ENSP00000385720.2:n.7730_7731del | |
ENST00000672722.1:c.*3230_*3231del MANE Select | ENSP00000500409.1:n.*3230_*3231del | |
ENST00000404338.7:c.7730_7731del | ENSP00000385720.2:n.7730_7731del | |
ENST00000614079.1:c.7307_7308del | ENSP00000483730.1:n.7307_7308del | |
NM_004491.4:c.7730_7731del | NP_004482.4:n.7730_7731del | |
NM_004491.5:c.*3230_*3231del MANE Select | NP_004482.4:n.*3230_*3231del |