Canonical Allele Identifier: CA2796088850

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722035_55722038del , CM000674.2:g.55722035_55722038del	GRCh38
NC_000012.11:g.56115819_56115822del , CM000674.1:g.56115819_56115822del	GRCh37
NC_000012.10:g.54402086_54402089del	NCBI36
NG_008606.1:g.6669_6672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+88_569+91del MANE Select	ENSP00000257895.6:n.569+88_569+91del
ENST00000257895.9:c.569+88_569+91del	ENSP00000257895.5:n.569+88_569+91del
ENST00000257899.3:c.591+81_591+84del
ENST00000547072.5:c.278+88_278+91del	ENSP00000449927.1:n.278+88_278+91del
ENST00000548082.1:c.569+88_569+91del	ENSP00000447128.1:n.569+88_569+91del
ENST00000548123.1:c.300+541_300+544del
ENST00000548486.1:n.667_670del
ENST00000550412.5:c.*329_*332del	ENSP00000447650.1:n.*329_*332del
ENST00000550608.1:n.796_799del
ENST00000551946.5:c.*460_*463del	ENSP00000450201.1:n.*460_*463del
ENST00000553160.1:n.406-160_406-157del
NM_001199771.1:c.569+88_569+91del	NP_001186700.1:n.569+88_569+91del
NM_002905.3:c.569+88_569+91del	NP_002896.2:n.569+88_569+91del
NR_037658.1:n.628+88_628+91del
NM_001199771.2:c.569+88_569+91del	NP_001186700.1:n.569+88_569+91del
NM_002905.5:c.569+88_569+91del MANE Select	NP_002896.2:n.569+88_569+91del
NM_001199771.3:c.569+88_569+91del	NP_001186700.1:n.569+88_569+91del