Canonical Allele Identifier: CA2796088876

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722065_55722066insAG , CM000674.2:g.55722065_55722066insAG	GRCh38
NC_000012.11:g.56115849_56115850insAG , CM000674.1:g.56115849_56115850insAG	GRCh37
NC_000012.10:g.54402116_54402117insAG	NCBI36
NG_008606.1:g.6699_6700insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+118_569+119insAG MANE Select	ENSP00000257895.6:n.569+118_569+119insAG
ENST00000257895.9:c.569+118_569+119insAG	ENSP00000257895.5:n.569+118_569+119insAG
ENST00000257899.3:c.591+111_591+112insAG
ENST00000547072.5:c.278+118_278+119insAG	ENSP00000449927.1:n.278+118_278+119insAG
ENST00000548082.1:c.569+118_569+119insAG	ENSP00000447128.1:n.569+118_569+119insAG
ENST00000548123.1:c.300+571_300+572insAG
ENST00000548486.1:n.697_698insAG
ENST00000550412.5:c.*359_*360insAG	ENSP00000447650.1:n.*359_*360insAG
ENST00000550608.1:n.826_827insAG
ENST00000551946.5:c.*490_*491insAG	ENSP00000450201.1:n.*490_*491insAG
ENST00000553160.1:n.406-130_406-129insAG
NM_001199771.1:c.569+118_569+119insAG	NP_001186700.1:n.569+118_569+119insAG
NM_002905.3:c.569+118_569+119insAG	NP_002896.2:n.569+118_569+119insAG
NR_037658.1:n.628+118_628+119insAG
NM_001199771.2:c.569+118_569+119insAG	NP_001186700.1:n.569+118_569+119insAG
NM_002905.5:c.569+118_569+119insAG MANE Select	NP_002896.2:n.569+118_569+119insAG
NM_001199771.3:c.569+118_569+119insAG	NP_001186700.1:n.569+118_569+119insAG