HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148994693_148994696dup , CM000667.2:g.148994693_148994696dup | GRCh38 |
NC_000005.9:g.148374256_148374259dup , CM000667.1:g.148374256_148374259dup | GRCh37 |
NC_000005.8:g.148354449_148354452dup | NCBI36 |
NG_007947.2:g.73488_73491dup , LRG_269:g.73488_73491dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000515425.6:c.*10024_*10027dup MANE Select | ENSP00000423660.1:n.*10024_*10027dup | |
ENST00000504690.5:c.*12+9039_*12+9042dup | ENSP00000425627.1:n.*12+9039_*12+9042dup | |
ENST00000510350.1:n.231+12194_231+12197dup | ||
NM_024577.3:c.*10024_*10027dup , LRG_269t1:c.*10024_*10027dup | NP_078853.2:n.*10024_*10027dup | |
NM_024577.4:c.*10024_*10027dup MANE Select | NP_078853.2:n.*10024_*10027dup |