Canonical Allele Identifier: CA2038069364

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721609_55721610delinsGT , CM000674.2:g.55721609_55721610delinsGT	GRCh38
NC_000012.11:g.56115393_56115394delinsGT , CM000674.1:g.56115393_56115394delinsGT	GRCh37
NC_000012.10:g.54401660_54401661delinsGT	NCBI36
NG_008606.1:g.6243_6244delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-80_311-79delinsGT MANE Select	ENSP00000257895.6:n.311-80_311-79delinsGT
ENST00000257895.9:c.311-80_311-79delinsGT	ENSP00000257895.5:n.311-80_311-79delinsGT
ENST00000257899.3:c.326-80_326-79delinsGT
ENST00000547072.5:c.20-80_20-79delinsGT	ENSP00000449927.1:n.20-80_20-79delinsGT
ENST00000547301.1:n.339_340delinsGT
ENST00000548082.1:c.311-80_311-79delinsGT	ENSP00000447128.1:n.311-80_311-79delinsGT
ENST00000548123.1:c.300+115_300+116delinsGT
ENST00000548486.1:n.321-80_321-79delinsGT
ENST00000549424.1:c.118-80_118-79delinsGT	ENSP00000447621.1:n.118-80_118-79delinsGT
ENST00000550412.5:c.352-80_352-79delinsGT	ENSP00000447650.1:n.352-80_352-79delinsGT
ENST00000550608.1:n.450-80_450-79delinsGT
ENST00000551946.5:c.*114-80_*114-79delinsGT	ENSP00000450201.1:n.*114-80_*114-79delinsGT
ENST00000552930.5:c.20-80_20-79delinsGT	ENSP00000448014.1:n.20-80_20-79delinsGT
ENST00000553160.1:n.406-586_406-585delinsGT
ENST00000553187.5:n.321-80_321-79delinsGT
NM_001199771.1:c.311-80_311-79delinsGT	NP_001186700.1:n.311-80_311-79delinsGT
NM_002905.3:c.311-80_311-79delinsGT	NP_002896.2:n.311-80_311-79delinsGT
NR_037658.1:n.370-80_370-79delinsGT
NM_001199771.2:c.311-80_311-79delinsGT	NP_001186700.1:n.311-80_311-79delinsGT
NM_002905.5:c.311-80_311-79delinsGT MANE Select	NP_002896.2:n.311-80_311-79delinsGT
NM_001199771.3:c.311-80_311-79delinsGT	NP_001186700.1:n.311-80_311-79delinsGT