Canonical Allele Identifier: CA2796088871

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722064_55722068del , CM000674.2:g.55722064_55722068del	GRCh38
NC_000012.11:g.56115848_56115852del , CM000674.1:g.56115848_56115852del	GRCh37
NC_000012.10:g.54402115_54402119del	NCBI36
NG_008606.1:g.6698_6702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+117_569+121del MANE Select	ENSP00000257895.6:n.569+117_569+121del
ENST00000257895.9:c.569+117_569+121del	ENSP00000257895.5:n.569+117_569+121del
ENST00000257899.3:c.591+110_591+114del
ENST00000547072.5:c.278+117_278+121del	ENSP00000449927.1:n.278+117_278+121del
ENST00000548082.1:c.569+117_569+121del	ENSP00000447128.1:n.569+117_569+121del
ENST00000548123.1:c.300+570_300+574del
ENST00000548486.1:n.696_700del
ENST00000550412.5:c.*358_*362del	ENSP00000447650.1:n.*358_*362del
ENST00000550608.1:n.825_829del
ENST00000551946.5:c.*489_*493del	ENSP00000450201.1:n.*489_*493del
ENST00000553160.1:n.406-131_406-127del
NM_001199771.1:c.569+117_569+121del	NP_001186700.1:n.569+117_569+121del
NM_002905.3:c.569+117_569+121del	NP_002896.2:n.569+117_569+121del
NR_037658.1:n.628+117_628+121del
NM_001199771.2:c.569+117_569+121del	NP_001186700.1:n.569+117_569+121del
NM_002905.5:c.569+117_569+121del MANE Select	NP_002896.2:n.569+117_569+121del
NM_001199771.3:c.569+117_569+121del	NP_001186700.1:n.569+117_569+121del