HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739693_120739697del , CM000674.2:g.120739693_120739697del | GRCh38 |
NC_000012.11:g.121177496_121177500del , CM000674.1:g.121177496_121177500del | GRCh37 |
NC_000012.10:g.119661879_119661883del | NCBI36 |
NG_007991.1:g.18926_18930del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*245_*249del MANE Select | ENSP00000242592.4:n.*245_*249del | |
ENST00000242592.8:c.*245_*249del | ENSP00000242592.4:n.*245_*249del | |
NM_000017.3:c.*245_*249del | NP_000008.1:n.*245_*249del | |
NM_001302554.1:c.*245_*249del | NP_001289483.1:n.*245_*249del | |
NM_000017.4:c.*245_*249del MANE Select | NP_000008.1:n.*245_*249del | |
NM_001302554.2:c.*245_*249del | NP_001289483.1:n.*245_*249del |