Canonical Allele Identifier: CA2038069562

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722021_55722028delinsTAAGATAC , CM000674.2:g.55722021_55722028delinsTAAGATAC	GRCh38
NC_000012.11:g.56115805_56115812delinsTAAGATAC , CM000674.1:g.56115805_56115812delinsTAAGATAC	GRCh37
NC_000012.10:g.54402072_54402079delinsTAAGATAC	NCBI36
NG_008606.1:g.6655_6662delinsTAAGATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+74_569+81delinsTAAGATAC MANE Select	ENSP00000257895.6:n.569+74_569+81delinsTAAGATAC
ENST00000257895.9:c.569+74_569+81delinsTAAGATAC	ENSP00000257895.5:n.569+74_569+81delinsTAAGATAC
ENST00000257899.3:c.591+67_591+74delinsTAAGATAC
ENST00000547072.5:c.278+74_278+81delinsTAAGATAC	ENSP00000449927.1:n.278+74_278+81delinsTAAGATAC
ENST00000548082.1:c.569+74_569+81delinsTAAGATAC	ENSP00000447128.1:n.569+74_569+81delinsTAAGATAC
ENST00000548123.1:c.300+527_300+534delinsTAAGATAC
ENST00000548486.1:n.653_660delinsTAAGATAC
ENST00000550412.5:c.*315_*322delinsTAAGATAC	ENSP00000447650.1:n.*315_*322delinsTAAGATAC
ENST00000550608.1:n.782_789delinsTAAGATAC
ENST00000551946.5:c.*446_*453delinsTAAGATAC	ENSP00000450201.1:n.*446_*453delinsTAAGATAC
ENST00000553160.1:n.406-174_406-167delinsTAAGATAC
NM_001199771.1:c.569+74_569+81delinsTAAGATAC	NP_001186700.1:n.569+74_569+81delinsTAAGATAC
NM_002905.3:c.569+74_569+81delinsTAAGATAC	NP_002896.2:n.569+74_569+81delinsTAAGATAC
NR_037658.1:n.628+74_628+81delinsTAAGATAC
NM_001199771.2:c.569+74_569+81delinsTAAGATAC	NP_001186700.1:n.569+74_569+81delinsTAAGATAC
NM_002905.5:c.569+74_569+81delinsTAAGATAC MANE Select	NP_002896.2:n.569+74_569+81delinsTAAGATAC
NM_001199771.3:c.569+74_569+81delinsTAAGATAC	NP_001186700.1:n.569+74_569+81delinsTAAGATAC