HGVS | Genome Assembly |
---|---|
NC_000023.11:g.116172482_116172483del , CM000685.2:g.116172482_116172483del | GRCh38 |
NC_000023.10:g.115303735_115303736del , CM000685.1:g.115303735_115303736del | GRCh37 |
NC_000023.9:g.115217763_115217764del | NCBI36 |
NG_016326.1:g.6778_6779del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371906.5:c.202_203del MANE Select | ENSP00000360973.4:p.Leu68ValfsTer8 | |
ENST00000680409.1:n.670_671del | ||
ENST00000681852.1:c.202_203del | ENSP00000505750.1:p.Leu68ValfsTer8 | |
ENST00000371906.4:c.202_203del | ENSP00000360973.4:p.Leu68ValfsTer8 | |
NM_000686.4:c.202_203del | NP_000677.2:p.Leu68ValfsTer8 | |
XM_011537533.1:c.202_203del | XP_011535835.1:p.Leu68ValfsTer8 | |
NM_000686.5:c.202_203del MANE Select | NP_000677.2:p.Leu68ValfsTer8 | |
NM_001385624.1:c.202_203del | NP_001372553.1:p.Leu68ValfsTer8 |