HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123707_72123715dup , CM000679.2:g.72123707_72123715dup | GRCh38 |
NC_000017.10:g.70119848_70119856dup , CM000679.1:g.70119848_70119856dup | GRCh37 |
NC_000017.9:g.67631443_67631451dup | NCBI36 |
NG_012490.1:g.7688_7696dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.850_858dup MANE Select | ENSP00000245479.2:p.Ile286_Glu287insSerAsnIle | |
ENST00000245479.2:c.850_858dup | ENSP00000245479.2:p.Ile286_Glu287insSerAsnIle | |
NM_000346.3:c.850_858dup | NP_000337.1:p.Ile286_Glu287insSerAsnIle | |
NM_000346.4:c.850_858dup MANE Select | NP_000337.1:p.Ile286_Glu287insSerAsnIle |