Canonical Allele Identifier: CA2796088868

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722059_55722063del , CM000674.2:g.55722059_55722063del	GRCh38
NC_000012.11:g.56115843_56115847del , CM000674.1:g.56115843_56115847del	GRCh37
NC_000012.10:g.54402110_54402114del	NCBI36
NG_008606.1:g.6693_6697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+112_569+116del MANE Select	ENSP00000257895.6:n.569+112_569+116del
ENST00000257895.9:c.569+112_569+116del	ENSP00000257895.5:n.569+112_569+116del
ENST00000257899.3:c.591+105_591+109del
ENST00000547072.5:c.278+112_278+116del	ENSP00000449927.1:n.278+112_278+116del
ENST00000548082.1:c.569+112_569+116del	ENSP00000447128.1:n.569+112_569+116del
ENST00000548123.1:c.300+565_300+569del
ENST00000548486.1:n.691_695del
ENST00000550412.5:c.*353_*357del	ENSP00000447650.1:n.*353_*357del
ENST00000550608.1:n.820_824del
ENST00000551946.5:c.*484_*488del	ENSP00000450201.1:n.*484_*488del
ENST00000553160.1:n.406-136_406-132del
NM_001199771.1:c.569+112_569+116del	NP_001186700.1:n.569+112_569+116del
NM_002905.3:c.569+112_569+116del	NP_002896.2:n.569+112_569+116del
NR_037658.1:n.628+112_628+116del
NM_001199771.2:c.569+112_569+116del	NP_001186700.1:n.569+112_569+116del
NM_002905.5:c.569+112_569+116del MANE Select	NP_002896.2:n.569+112_569+116del
NM_001199771.3:c.569+112_569+116del	NP_001186700.1:n.569+112_569+116del