Canonical Allele Identifier: CA2575183606

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721994del , CM000674.2:g.55721994del	GRCh38
NC_000012.11:g.56115778del , CM000674.1:g.56115778del	GRCh37
NC_000012.10:g.54402045del	NCBI36
NG_008606.1:g.6628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+47del MANE Select	ENSP00000257895.6:n.569+47del
ENST00000257895.9:c.569+47del	ENSP00000257895.5:n.569+47del
ENST00000257899.3:c.591+40del
ENST00000547072.5:c.278+47del	ENSP00000449927.1:n.278+47del
ENST00000548082.1:c.569+47del	ENSP00000447128.1:n.569+47del
ENST00000548123.1:c.300+500del
ENST00000548486.1:n.626del
ENST00000550412.5:c.*288del	ENSP00000447650.1:n.*288del
ENST00000550608.1:n.755del
ENST00000551946.5:c.*419del	ENSP00000450201.1:n.*419del
ENST00000553160.1:n.406-201del
NM_001199771.1:c.569+47del	NP_001186700.1:n.569+47del
NM_002905.3:c.569+47del	NP_002896.2:n.569+47del
NR_037658.1:n.628+47del
NM_001199771.2:c.569+47del	NP_001186700.1:n.569+47del
NM_002905.5:c.569+47del MANE Select	NP_002896.2:n.569+47del
NM_001199771.3:c.569+47del	NP_001186700.1:n.569+47del