HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492659_52492661del , CM000674.2:g.52492659_52492661del | GRCh38 |
NC_000012.11:g.52886443_52886445del , CM000674.1:g.52886443_52886445del | GRCh37 |
NC_000012.10:g.51172710_51172712del | NCBI36 |
NG_008298.1:g.5738_5740del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000330722.7:c.529_531del MANE Select | ENSP00000369317.3:p.Phe177del | |
ENST00000330722.6:c.529_531del | ENSP00000369317.3:p.Phe177del | |
ENST00000549898.5:n.50_52del | ||
NM_005554.3:c.529_531del | NP_005545.1:p.Phe177del | |
NM_005554.4:c.529_531del MANE Select | NP_005545.1:p.Phe177del |