HGVS | Genome Assembly |
---|---|
NC_000020.11:g.4221303_4221304del , CM000682.2:g.4221303_4221304del | GRCh38 |
NC_000020.10:g.4201950_4201951del , CM000682.1:g.4201950_4201951del | GRCh37 |
NC_000020.9:g.4149950_4149951del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379453.6:c.*221_*222del MANE Select | ENSP00000368766.4:n.*221_*222del | |
ENST00000379453.5:c.*221_*222del | ENSP00000368766.4:n.*221_*222del | |
NM_000678.3:c.*221_*222del | NP_000669.1:n.*221_*222del | |
NM_000678.4:c.*221_*222del MANE Select | NP_000669.1:n.*221_*222del |