HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740138_67740139del , CM000666.2:g.67740138_67740139del | GRCh38 |
NC_000004.11:g.68605856_68605857del , CM000666.1:g.68605856_68605857del | GRCh37 |
NC_000004.10:g.68288451_68288452del | NCBI36 |
NG_009293.1:g.20953_20954del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.*346_*347del MANE Select | ENSP00000226413.5:n.*346_*347del | |
ENST00000226413.4:c.*346_*347del | ENSP00000226413.4:n.*346_*347del | |
NM_000406.2:c.*346_*347del | NP_000397.1:n.*346_*347del | |
NM_001012763.1:c.*455_*456del | NP_001012781.1:n.*455_*456del | |
NM_000406.3:c.*346_*347del MANE Select | NP_000397.1:n.*346_*347del | |
NM_001012763.2:c.*455_*456del | NP_001012781.1:n.*455_*456del |