Canonical Allele Identifier: CA2038069358

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721597_55721600delinsTGAG , CM000674.2:g.55721597_55721600delinsTGAG	GRCh38
NC_000012.11:g.56115381_56115384delinsTGAG , CM000674.1:g.56115381_56115384delinsTGAG	GRCh37
NC_000012.10:g.54401648_54401651delinsTGAG	NCBI36
NG_008606.1:g.6231_6234delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-92_311-89delinsTGAG MANE Select	ENSP00000257895.6:n.311-92_311-89delinsTGAG
ENST00000257895.9:c.311-92_311-89delinsTGAG	ENSP00000257895.5:n.311-92_311-89delinsTGAG
ENST00000257899.3:c.326-92_326-89delinsTGAG
ENST00000547072.5:c.20-92_20-89delinsTGAG	ENSP00000449927.1:n.20-92_20-89delinsTGAG
ENST00000547301.1:n.327_330delinsTGAG
ENST00000548082.1:c.311-92_311-89delinsTGAG	ENSP00000447128.1:n.311-92_311-89delinsTGAG
ENST00000548123.1:c.300+103_300+106delinsTGAG
ENST00000548486.1:n.321-92_321-89delinsTGAG
ENST00000549424.1:c.118-92_118-89delinsTGAG	ENSP00000447621.1:n.118-92_118-89delinsTGAG
ENST00000550412.5:c.352-92_352-89delinsTGAG	ENSP00000447650.1:n.352-92_352-89delinsTGAG
ENST00000550608.1:n.450-92_450-89delinsTGAG
ENST00000551946.5:c.*114-92_*114-89delinsTGAG	ENSP00000450201.1:n.*114-92_*114-89delinsTGAG
ENST00000552930.5:c.20-92_20-89delinsTGAG	ENSP00000448014.1:n.20-92_20-89delinsTGAG
ENST00000553160.1:n.406-598_406-595delinsTGAG
ENST00000553187.5:n.321-92_321-89delinsTGAG
NM_001199771.1:c.311-92_311-89delinsTGAG	NP_001186700.1:n.311-92_311-89delinsTGAG
NM_002905.3:c.311-92_311-89delinsTGAG	NP_002896.2:n.311-92_311-89delinsTGAG
NR_037658.1:n.370-92_370-89delinsTGAG
NM_001199771.2:c.311-92_311-89delinsTGAG	NP_001186700.1:n.311-92_311-89delinsTGAG
NM_002905.5:c.311-92_311-89delinsTGAG MANE Select	NP_002896.2:n.311-92_311-89delinsTGAG
NM_001199771.3:c.311-92_311-89delinsTGAG	NP_001186700.1:n.311-92_311-89delinsTGAG