Canonical Allele Identifier: CA2796088861

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722047_55722050del , CM000674.2:g.55722047_55722050del	GRCh38
NC_000012.11:g.56115831_56115834del , CM000674.1:g.56115831_56115834del	GRCh37
NC_000012.10:g.54402098_54402101del	NCBI36
NG_008606.1:g.6681_6684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+100_569+103del MANE Select	ENSP00000257895.6:n.569+100_569+103del
ENST00000257895.9:c.569+100_569+103del	ENSP00000257895.5:n.569+100_569+103del
ENST00000257899.3:c.591+93_591+96del
ENST00000547072.5:c.278+100_278+103del	ENSP00000449927.1:n.278+100_278+103del
ENST00000548082.1:c.569+100_569+103del	ENSP00000447128.1:n.569+100_569+103del
ENST00000548123.1:c.300+553_300+556del
ENST00000548486.1:n.679_682del
ENST00000550412.5:c.*341_*344del	ENSP00000447650.1:n.*341_*344del
ENST00000550608.1:n.808_811del
ENST00000551946.5:c.*472_*475del	ENSP00000450201.1:n.*472_*475del
ENST00000553160.1:n.406-148_406-145del
NM_001199771.1:c.569+100_569+103del	NP_001186700.1:n.569+100_569+103del
NM_002905.3:c.569+100_569+103del	NP_002896.2:n.569+100_569+103del
NR_037658.1:n.628+100_628+103del
NM_001199771.2:c.569+100_569+103del	NP_001186700.1:n.569+100_569+103del
NM_002905.5:c.569+100_569+103del MANE Select	NP_002896.2:n.569+100_569+103del
NM_001199771.3:c.569+100_569+103del	NP_001186700.1:n.569+100_569+103del