HGVS | Genome Assembly |
---|---|
NC_000017.11:g.82727222_82727224del , CM000679.2:g.82727222_82727224del | GRCh38 |
NC_000017.10:g.80685098_80685100del , CM000679.1:g.80685098_80685100del | GRCh37 |
NC_000017.9:g.78278387_78278389del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000269373.11:c.*51_*53del MANE Select | ENSP00000269373.6:n.*51_*53del | |
ENST00000269373.10:c.*51_*53del | ENSP00000269373.6:n.*51_*53del | |
ENST00000571594.1:c.53+55_53+57del | ENSP00000459751.1:n.53+55_53+57del | |
ENST00000574832.5:c.*938_*940del | ENSP00000460869.1:n.*938_*940del | |
NM_024619.3:c.*51_*53del | NP_078895.2:n.*51_*53del | |
NR_046408.1:n.1159_1161del | ||
XM_024450948.1:c.*51_*53del | XP_024306716.1:n.*51_*53del | |
NM_024619.4:c.*51_*53del MANE Select | NP_078895.2:n.*51_*53del | |
NR_046408.2:n.1159_1161del |