Canonical Allele Identifier: CA2796088862

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722046_55722047insCAT , CM000674.2:g.55722046_55722047insCAT	GRCh38
NC_000012.11:g.56115830_56115831insCAT , CM000674.1:g.56115830_56115831insCAT	GRCh37
NC_000012.10:g.54402097_54402098insCAT	NCBI36
NG_008606.1:g.6680_6681insCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+99_569+100insCAT MANE Select	ENSP00000257895.6:n.569+99_569+100insCAT
ENST00000257895.9:c.569+99_569+100insCAT	ENSP00000257895.5:n.569+99_569+100insCAT
ENST00000257899.3:c.591+92_591+93insCAT
ENST00000547072.5:c.278+99_278+100insCAT	ENSP00000449927.1:n.278+99_278+100insCAT
ENST00000548082.1:c.569+99_569+100insCAT	ENSP00000447128.1:n.569+99_569+100insCAT
ENST00000548123.1:c.300+552_300+553insCAT
ENST00000548486.1:n.678_679insCAT
ENST00000550412.5:c.*340_*341insCAT	ENSP00000447650.1:n.*340_*341insCAT
ENST00000550608.1:n.807_808insCAT
ENST00000551946.5:c.*471_*472insCAT	ENSP00000450201.1:n.*471_*472insCAT
ENST00000553160.1:n.406-149_406-148insCAT
NM_001199771.1:c.569+99_569+100insCAT	NP_001186700.1:n.569+99_569+100insCAT
NM_002905.3:c.569+99_569+100insCAT	NP_002896.2:n.569+99_569+100insCAT
NR_037658.1:n.628+99_628+100insCAT
NM_001199771.2:c.569+99_569+100insCAT	NP_001186700.1:n.569+99_569+100insCAT
NM_002905.5:c.569+99_569+100insCAT MANE Select	NP_002896.2:n.569+99_569+100insCAT
NM_001199771.3:c.569+99_569+100insCAT	NP_001186700.1:n.569+99_569+100insCAT