Canonical Allele Identifier: CA2796088845

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722028_55722031del , CM000674.2:g.55722028_55722031del	GRCh38
NC_000012.11:g.56115812_56115815del , CM000674.1:g.56115812_56115815del	GRCh37
NC_000012.10:g.54402079_54402082del	NCBI36
NG_008606.1:g.6662_6665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+81_569+84del MANE Select	ENSP00000257895.6:n.569+81_569+84del
ENST00000257895.9:c.569+81_569+84del	ENSP00000257895.5:n.569+81_569+84del
ENST00000257899.3:c.591+74_591+77del
ENST00000547072.5:c.278+81_278+84del	ENSP00000449927.1:n.278+81_278+84del
ENST00000548082.1:c.569+81_569+84del	ENSP00000447128.1:n.569+81_569+84del
ENST00000548123.1:c.300+534_300+537del
ENST00000548486.1:n.660_663del
ENST00000550412.5:c.*322_*325del	ENSP00000447650.1:n.*322_*325del
ENST00000550608.1:n.789_792del
ENST00000551946.5:c.*453_*456del	ENSP00000450201.1:n.*453_*456del
ENST00000553160.1:n.406-167_406-164del
NM_001199771.1:c.569+81_569+84del	NP_001186700.1:n.569+81_569+84del
NM_002905.3:c.569+81_569+84del	NP_002896.2:n.569+81_569+84del
NR_037658.1:n.628+81_628+84del
NM_001199771.2:c.569+81_569+84del	NP_001186700.1:n.569+81_569+84del
NM_002905.5:c.569+81_569+84del MANE Select	NP_002896.2:n.569+81_569+84del
NM_001199771.3:c.569+81_569+84del	NP_001186700.1:n.569+81_569+84del