HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148994650_148994661del , CM000667.2:g.148994650_148994661del | GRCh38 |
NC_000005.9:g.148374213_148374224del , CM000667.1:g.148374213_148374224del | GRCh37 |
NC_000005.8:g.148354406_148354417del | NCBI36 |
NG_007947.2:g.73563_73574del , LRG_269:g.73563_73574del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000515425.6:c.*10099_*10110del MANE Select | ENSP00000423660.1:n.*10099_*10110del | |
ENST00000504690.5:c.*12+9114_*12+9125del | ENSP00000425627.1:n.*12+9114_*12+9125del | |
ENST00000510350.1:n.231+12269_231+12280del | ||
NM_024577.3:c.*10099_*10110del , LRG_269t1:c.*10099_*10110del | NP_078853.2:n.*10099_*10110del | |
NM_024577.4:c.*10099_*10110del MANE Select | NP_078853.2:n.*10099_*10110del |