Canonical Allele Identifier: CA2038069360

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721601_55721604delinsGAGA , CM000674.2:g.55721601_55721604delinsGAGA	GRCh38
NC_000012.11:g.56115385_56115388delinsGAGA , CM000674.1:g.56115385_56115388delinsGAGA	GRCh37
NC_000012.10:g.54401652_54401655delinsGAGA	NCBI36
NG_008606.1:g.6235_6238delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-88_311-85delinsGAGA MANE Select	ENSP00000257895.6:n.311-88_311-85delinsGAGA
ENST00000257895.9:c.311-88_311-85delinsGAGA	ENSP00000257895.5:n.311-88_311-85delinsGAGA
ENST00000257899.3:c.326-88_326-85delinsGAGA
ENST00000547072.5:c.20-88_20-85delinsGAGA	ENSP00000449927.1:n.20-88_20-85delinsGAGA
ENST00000547301.1:n.331_334delinsGAGA
ENST00000548082.1:c.311-88_311-85delinsGAGA	ENSP00000447128.1:n.311-88_311-85delinsGAGA
ENST00000548123.1:c.300+107_300+110delinsGAGA
ENST00000548486.1:n.321-88_321-85delinsGAGA
ENST00000549424.1:c.118-88_118-85delinsGAGA	ENSP00000447621.1:n.118-88_118-85delinsGAGA
ENST00000550412.5:c.352-88_352-85delinsGAGA	ENSP00000447650.1:n.352-88_352-85delinsGAGA
ENST00000550608.1:n.450-88_450-85delinsGAGA
ENST00000551946.5:c.*114-88_*114-85delinsGAGA	ENSP00000450201.1:n.*114-88_*114-85delinsGAGA
ENST00000552930.5:c.20-88_20-85delinsGAGA	ENSP00000448014.1:n.20-88_20-85delinsGAGA
ENST00000553160.1:n.406-594_406-591delinsGAGA
ENST00000553187.5:n.321-88_321-85delinsGAGA
NM_001199771.1:c.311-88_311-85delinsGAGA	NP_001186700.1:n.311-88_311-85delinsGAGA
NM_002905.3:c.311-88_311-85delinsGAGA	NP_002896.2:n.311-88_311-85delinsGAGA
NR_037658.1:n.370-88_370-85delinsGAGA
NM_001199771.2:c.311-88_311-85delinsGAGA	NP_001186700.1:n.311-88_311-85delinsGAGA
NM_002905.5:c.311-88_311-85delinsGAGA MANE Select	NP_002896.2:n.311-88_311-85delinsGAGA
NM_001199771.3:c.311-88_311-85delinsGAGA	NP_001186700.1:n.311-88_311-85delinsGAGA