HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764358del , CM000674.2:g.57764358del | GRCh38 |
NC_000012.11:g.58158141del , CM000674.1:g.58158141del | GRCh37 |
NC_000012.10:g.56444408del | NCBI36 |
NG_007076.1:g.7837del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1217+21del | ENSP00000518840.1:n.1217+21del | |
ENST00000713545.1:c.*141+21del | ENSP00000518841.1:n.*141+21del | |
ENST00000228606.9:c.1136+21del MANE Select | ENSP00000228606.4:n.1136+21del | |
ENST00000228606.8:c.1136+21del | ENSP00000228606.4:n.1136+21del | |
ENST00000546567.5:c.431+21del | ENSP00000449472.1:n.431+21del | |
ENST00000547344.5:n.1275+21del | ||
NM_000785.3:c.1136+21del | NP_000776.1:n.1136+21del | |
NM_000785.4:c.1136+21del MANE Select | NP_000776.1:n.1136+21del |