HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52035115_52035117dup , CM000675.2:g.52035115_52035117dup | GRCh38 |
NC_000013.10:g.52609251_52609253dup , CM000675.1:g.52609251_52609253dup | GRCh37 |
NC_000013.9:g.51507252_51507254dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647945.2:c.*1832_*1834dup (NEK5) | ENSP00000497892.1:n.*1832_*1834dup | |
ENST00000684899.1:c.*1832_*1834dup (NEK5) MANE Select | ENSP00000509632.1:n.*1832_*1834dup | |
ENST00000649708.2:c.275+15972_275+15974dup (ALG11) | ENSP00000497459.2:n.275+15972_275+15974dup | |
ENST00000652502.1:n.3994_3996dup (NEK5) | ||
ENST00000679495.1:n.44+22653_44+22655dup (ALG11) | ||
ENST00000529080.5:n.2535_2537dup (NEK5) | ||
NM_001365552.1:c.*1832_*1834dup (NEK5) MANE Select | NP_001352481.1:n.*1832_*1834dup |