HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94046932del , CM000663.2:g.94046932del | GRCh38 |
NC_000001.10:g.94512488del , CM000663.1:g.94512488del | GRCh37 |
NC_000001.9:g.94285076del | NCBI36 |
NG_009073.1:g.79221del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2908del MANE Select | ENSP00000359245.3:p.Thr970ProfsTer7 | |
ENST00000649773.1:c.2686del | ENSP00000496882.1:p.Thr896ProfsTer20 | |
ENST00000370225.3:c.2908del | ENSP00000359245.3:p.Thr970ProfsTer7 | |
ENST00000536513.5:c.-64-6840del | ENSP00000439707.2:n.-64-6840del | |
NM_000350.2:c.2908del | NP_000341.2:p.Thr970ProfsTer7 | |
NM_000350.3:c.2908del MANE Select | NP_000341.2:p.Thr970ProfsTer7 |