Canonical Allele Identifier: CA2796088839

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722021_55722022del , CM000674.2:g.55722021_55722022del	GRCh38
NC_000012.11:g.56115805_56115806del , CM000674.1:g.56115805_56115806del	GRCh37
NC_000012.10:g.54402072_54402073del	NCBI36
NG_008606.1:g.6655_6656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+74_569+75del MANE Select	ENSP00000257895.6:n.569+74_569+75del
ENST00000257895.9:c.569+74_569+75del	ENSP00000257895.5:n.569+74_569+75del
ENST00000257899.3:c.591+67_591+68del
ENST00000547072.5:c.278+74_278+75del	ENSP00000449927.1:n.278+74_278+75del
ENST00000548082.1:c.569+74_569+75del	ENSP00000447128.1:n.569+74_569+75del
ENST00000548123.1:c.300+527_300+528del
ENST00000548486.1:n.653_654del
ENST00000550412.5:c.*315_*316del	ENSP00000447650.1:n.*315_*316del
ENST00000550608.1:n.782_783del
ENST00000551946.5:c.*446_*447del	ENSP00000450201.1:n.*446_*447del
ENST00000553160.1:n.406-174_406-173del
NM_001199771.1:c.569+74_569+75del	NP_001186700.1:n.569+74_569+75del
NM_002905.3:c.569+74_569+75del	NP_002896.2:n.569+74_569+75del
NR_037658.1:n.628+74_628+75del
NM_001199771.2:c.569+74_569+75del	NP_001186700.1:n.569+74_569+75del
NM_002905.5:c.569+74_569+75del MANE Select	NP_002896.2:n.569+74_569+75del
NM_001199771.3:c.569+74_569+75del	NP_001186700.1:n.569+74_569+75del