Canonical Allele Identifier: CA2796088865

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722047_55722048insACG , CM000674.2:g.55722047_55722048insACG	GRCh38
NC_000012.11:g.56115831_56115832insACG , CM000674.1:g.56115831_56115832insACG	GRCh37
NC_000012.10:g.54402098_54402099insACG	NCBI36
NG_008606.1:g.6681_6682insACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+100_569+101insACG MANE Select	ENSP00000257895.6:n.569+100_569+101insACG
ENST00000257895.9:c.569+100_569+101insACG	ENSP00000257895.5:n.569+100_569+101insACG
ENST00000257899.3:c.591+93_591+94insACG
ENST00000547072.5:c.278+100_278+101insACG	ENSP00000449927.1:n.278+100_278+101insACG
ENST00000548082.1:c.569+100_569+101insACG	ENSP00000447128.1:n.569+100_569+101insACG
ENST00000548123.1:c.300+553_300+554insACG
ENST00000548486.1:n.679_680insACG
ENST00000550412.5:c.*341_*342insACG	ENSP00000447650.1:n.*341_*342insACG
ENST00000550608.1:n.808_809insACG
ENST00000551946.5:c.*472_*473insACG	ENSP00000450201.1:n.*472_*473insACG
ENST00000553160.1:n.406-148_406-147insACG
NM_001199771.1:c.569+100_569+101insACG	NP_001186700.1:n.569+100_569+101insACG
NM_002905.3:c.569+100_569+101insACG	NP_002896.2:n.569+100_569+101insACG
NR_037658.1:n.628+100_628+101insACG
NM_001199771.2:c.569+100_569+101insACG	NP_001186700.1:n.569+100_569+101insACG
NM_002905.5:c.569+100_569+101insACG MANE Select	NP_002896.2:n.569+100_569+101insACG
NM_001199771.3:c.569+100_569+101insACG	NP_001186700.1:n.569+100_569+101insACG