HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492657_52492660delinsTGAA , CM000674.2:g.52492657_52492660delinsTGAA | GRCh38 |
NC_000012.11:g.52886441_52886444delinsTGAA , CM000674.1:g.52886441_52886444delinsTGAA | GRCh37 |
NC_000012.10:g.51172708_51172711delinsTGAA | NCBI36 |
NG_008298.1:g.5738_5741delinsTTCA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.529_532delinsTTCA MANE Select | ENSP00000369317.3:p.Phe177= | |
ENST00000330722.6:c.529_532delinsTTCA | ENSP00000369317.3:p.Phe177= | |
ENST00000549898.5:n.50_53delinsTTCA | ||
NM_005554.3:c.529_532delinsTTCA | NP_005545.1:p.Phe177= | |
NM_005554.4:c.529_532delinsTTCA MANE Select | NP_005545.1:p.Phe177= |