HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312844_118312845del , CM000673.2:g.118312844_118312845del | GRCh38 |
NC_000011.9:g.118183559_118183560del , CM000673.1:g.118183559_118183560del | GRCh37 |
NC_000011.8:g.117688769_117688770del | NCBI36 |
NG_007383.1:g.13265_13266del , LRG_38:g.13265_13266del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.330_331del MANE Select | ENSP00000354566.4:p.Phe110LeufsTer10 | |
ENST00000361763.8:c.330_331del | ENSP00000354566.4:p.Phe110LeufsTer10 | |
ENST00000526146.5:n.876_877del | ||
ENST00000528435.5:n.883_884del | ||
ENST00000528600.1:c.312_313del | ENSP00000433975.1:p.Phe104LeufsTer10 | |
ENST00000529713.5:n.436_437del | ||
ENST00000531913.1:n.701_702del | ||
NM_000733.3:c.330_331del , LRG_38t1:c.330_331del | NP_000724.1:p.Phe110LeufsTer10 | |
NM_000733.4:c.330_331del MANE Select | NP_000724.1:p.Phe110LeufsTer10 |