HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148994662_148994669del , CM000667.2:g.148994662_148994669del | GRCh38 |
NC_000005.9:g.148374225_148374232del , CM000667.1:g.148374225_148374232del | GRCh37 |
NC_000005.8:g.148354418_148354425del | NCBI36 |
NG_007947.2:g.73507_73514del , LRG_269:g.73507_73514del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000515425.6:c.*10043_*10050del MANE Select | ENSP00000423660.1:n.*10043_*10050del | |
ENST00000504690.5:c.*12+9058_*12+9065del | ENSP00000425627.1:n.*12+9058_*12+9065del | |
ENST00000510350.1:n.231+12213_231+12220del | ||
NM_024577.3:c.*10043_*10050del , LRG_269t1:c.*10043_*10050del | NP_078853.2:n.*10043_*10050del | |
NM_024577.4:c.*10043_*10050del MANE Select | NP_078853.2:n.*10043_*10050del |