HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740672_67740673del , CM000666.2:g.67740672_67740673del | GRCh38 |
NC_000004.11:g.68606390_68606391del , CM000666.1:g.68606390_68606391del | GRCh37 |
NC_000004.10:g.68288985_68288986del | NCBI36 |
NG_009293.1:g.20416_20417del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.796_797del MANE Select | ENSP00000226413.5:p.Leu266LysfsTer27 | |
ENST00000226413.4:c.796_797del | ENSP00000226413.4:p.Leu266LysfsTer27 | |
ENST00000420975.2:c.668_669del | ENSP00000397561.2:p.Ser223Ter | |
NM_000406.2:c.796_797del | NP_000397.1:p.Leu266LysfsTer27 | |
NM_001012763.1:c.668_669del | NP_001012781.1:p.Ser223Ter | |
NM_000406.3:c.796_797del MANE Select | NP_000397.1:p.Leu266LysfsTer27 | |
NM_001012763.2:c.668_669del | NP_001012781.1:p.Ser223Ter |