HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727624_82727625del , CM000679.2:g.82727624_82727625del | GRCh38 |
NC_000017.10:g.80685500_80685501del , CM000679.1:g.80685500_80685501del | GRCh37 |
NC_000017.9:g.78278789_78278790del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*453_*454del MANE Select | ENSP00000269373.6:n.*453_*454del | |
ENST00000269373.10:c.*453_*454del | ENSP00000269373.6:n.*453_*454del | |
ENST00000571594.1:c.53+457_53+458del | ENSP00000459751.1:n.53+457_53+458del | |
NM_024619.3:c.*453_*454del | NP_078895.2:n.*453_*454del | |
NR_046408.1:n.1561_1562del | ||
XM_024450948.1:c.*453_*454del | XP_024306716.1:n.*453_*454del | |
NM_024619.4:c.*453_*454del MANE Select | NP_078895.2:n.*453_*454del | |
NR_046408.2:n.1561_1562del |