HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370579_34370580dup , CM000683.2:g.34370579_34370580dup | GRCh38 |
NC_000021.8:g.35742878_35742879dup , CM000683.1:g.35742878_35742879dup | GRCh37 |
NC_000021.7:g.34664748_34664749dup | NCBI36 |
NG_008804.1:g.11556_11557dup , LRG_291:g.11556_11557dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290310.4:c.101_102dup MANE Select | ENSP00000290310.2:p.Glu35LysfsTer22 | |
ENST00000290310.3:c.101_102dup | ENSP00000290310.2:p.Glu35LysfsTer22 | |
NM_172201.1:c.101_102dup , LRG_291t1:c.101_102dup | NP_751951.1:p.Glu35LysfsTer22 | |
XR_937683.1:n.741_742dup | ||
XR_937684.1:n.741_742dup | ||
XR_001755012.2:n.862_863dup | ||
XR_001755013.2:n.741_742dup | ||
XR_937683.2:n.741_742dup | ||
NM_172201.2:c.101_102dup MANE Select | NP_751951.1:p.Glu35LysfsTer22 |