HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95308045_95308046del , CM000669.2:g.95308045_95308046del | GRCh38 |
NC_000007.13:g.94937357_94937358del , CM000669.1:g.94937357_94937358del | GRCh37 |
NC_000007.12:g.94775293_94775294del | NCBI36 |
NG_008779.1:g.21529_21530del | |
NG_008779.2:g.21663_21664del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222381.8:c.665_666del MANE Select | ENSP00000222381.3:p.Phe222CysfsTer2 | |
ENST00000222381.7:c.665_666del | ENSP00000222381.3:p.Phe222CysfsTer2 | |
ENST00000433729.1:c.*390_*391del | ENSP00000407359.1:n.*390_*391del | |
NM_000446.5:c.665_666del | NP_000437.3:p.Phe222CysfsTer2 | |
NM_000446.6:c.665_666del | NP_000437.3:p.Phe222CysfsTer2 | |
NM_000446.7:c.665_666del MANE Select | NP_000437.3:p.Phe222CysfsTer2 |