HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50910970del , CM000685.2:g.50910970del | GRCh38 |
NC_000023.10:g.50653970del , CM000685.1:g.50653970del | GRCh37 |
NC_000023.9:g.50670710del | NCBI36 |
NG_012894.1:g.5187del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.187del MANE Select | ENSP00000252677.3:p.Leu63Ter | |
ENST00000252677.3:c.187del | ENSP00000252677.3:p.Leu63Ter | |
NM_005448.2:c.187del MANE Select | NP_005439.2:p.Leu63Ter |