Canonical Allele Identifier: CA2796088811

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721564_55721565insAG , CM000674.2:g.55721564_55721565insAG	GRCh38
NC_000012.11:g.56115348_56115349insAG , CM000674.1:g.56115348_56115349insAG	GRCh37
NC_000012.10:g.54401615_54401616insAG	NCBI36
NG_008606.1:g.6198_6199insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+70_310+71insAG MANE Select	ENSP00000257895.6:n.310+70_310+71insAG
ENST00000257895.9:c.310+70_310+71insAG	ENSP00000257895.5:n.310+70_310+71insAG
ENST00000257899.3:c.326-125_326-124insAG
ENST00000547072.5:c.19+70_19+71insAG	ENSP00000449927.1:n.19+70_19+71insAG
ENST00000547301.1:n.294_295insAG
ENST00000548082.1:c.310+70_310+71insAG	ENSP00000447128.1:n.310+70_310+71insAG
ENST00000548123.1:c.300+70_300+71insAG
ENST00000548486.1:n.320+70_320+71insAG
ENST00000549424.1:c.118-125_118-124insAG	ENSP00000447621.1:n.118-125_118-124insAG
ENST00000550412.5:c.352-125_352-124insAG	ENSP00000447650.1:n.352-125_352-124insAG
ENST00000550608.1:n.449+70_449+71insAG
ENST00000551946.5:c.*114-125_*114-124insAG	ENSP00000450201.1:n.*114-125_*114-124insAG
ENST00000552930.5:c.19+70_19+71insAG	ENSP00000448014.1:n.19+70_19+71insAG
ENST00000553160.1:n.406-631_406-630insAG
ENST00000553187.5:n.320+70_320+71insAG
NM_001199771.1:c.310+70_310+71insAG	NP_001186700.1:n.310+70_310+71insAG
NM_002905.3:c.310+70_310+71insAG	NP_002896.2:n.310+70_310+71insAG
NR_037658.1:n.370-125_370-124insAG
NM_001199771.2:c.310+70_310+71insAG	NP_001186700.1:n.310+70_310+71insAG
NM_002905.5:c.310+70_310+71insAG MANE Select	NP_002896.2:n.310+70_310+71insAG
NM_001199771.3:c.310+70_310+71insAG	NP_001186700.1:n.310+70_310+71insAG