HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764423del , CM000674.2:g.57764423del | GRCh38 |
NC_000012.11:g.58158206del , CM000674.1:g.58158206del | GRCh37 |
NC_000012.10:g.56444473del | NCBI36 |
NG_007076.1:g.7771del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1172del | ENSP00000518840.1:p.Leu391ArgfsTer7 | |
ENST00000713545.1:c.*96del | ENSP00000518841.1:n.*96del | |
ENST00000228606.9:c.1091del MANE Select | ENSP00000228606.4:p.Leu364ArgfsTer7 | |
ENST00000228606.8:c.1091del | ENSP00000228606.4:p.Leu364ArgfsTer7 | |
ENST00000546567.5:c.386del | ENSP00000449472.1:p.Leu129ArgfsTer7 | |
ENST00000547344.5:n.1230del | ||
NM_000785.3:c.1091del | NP_000776.1:p.Leu364ArgfsTer7 | |
NM_000785.4:c.1091del MANE Select | NP_000776.1:p.Leu364ArgfsTer7 |