HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148994584_148994597del , CM000667.2:g.148994584_148994597del | GRCh38 |
NC_000005.9:g.148374147_148374160del , CM000667.1:g.148374147_148374160del | GRCh37 |
NC_000005.8:g.148354340_148354353del | NCBI36 |
NG_007947.2:g.73578_73591del , LRG_269:g.73578_73591del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000515425.6:c.*10114_*10127del MANE Select | ENSP00000423660.1:n.*10114_*10127del | |
ENST00000504690.5:c.*12+9129_*12+9142del | ENSP00000425627.1:n.*12+9129_*12+9142del | |
ENST00000510350.1:n.231+12284_231+12297del | ||
NM_024577.3:c.*10114_*10127del , LRG_269t1:c.*10114_*10127del | NP_078853.2:n.*10114_*10127del | |
NM_024577.4:c.*10114_*10127del MANE Select | NP_078853.2:n.*10114_*10127del |