Canonical Allele Identifier: CA2038069561

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722014_55722015delinsAG , CM000674.2:g.55722014_55722015delinsAG	GRCh38
NC_000012.11:g.56115798_56115799delinsAG , CM000674.1:g.56115798_56115799delinsAG	GRCh37
NC_000012.10:g.54402065_54402066delinsAG	NCBI36
NG_008606.1:g.6648_6649delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+67_569+68delinsAG MANE Select	ENSP00000257895.6:n.569+67_569+68delinsAG
ENST00000257895.9:c.569+67_569+68delinsAG	ENSP00000257895.5:n.569+67_569+68delinsAG
ENST00000257899.3:c.591+60_591+61delinsAG
ENST00000547072.5:c.278+67_278+68delinsAG	ENSP00000449927.1:n.278+67_278+68delinsAG
ENST00000548082.1:c.569+67_569+68delinsAG	ENSP00000447128.1:n.569+67_569+68delinsAG
ENST00000548123.1:c.300+520_300+521delinsAG
ENST00000548486.1:n.646_647delinsAG
ENST00000550412.5:c.*308_*309delinsAG	ENSP00000447650.1:n.*308_*309delinsAG
ENST00000550608.1:n.775_776delinsAG
ENST00000551946.5:c.*439_*440delinsAG	ENSP00000450201.1:n.*439_*440delinsAG
ENST00000553160.1:n.406-181_406-180delinsAG
NM_001199771.1:c.569+67_569+68delinsAG	NP_001186700.1:n.569+67_569+68delinsAG
NM_002905.3:c.569+67_569+68delinsAG	NP_002896.2:n.569+67_569+68delinsAG
NR_037658.1:n.628+67_628+68delinsAG
NM_001199771.2:c.569+67_569+68delinsAG	NP_001186700.1:n.569+67_569+68delinsAG
NM_002905.5:c.569+67_569+68delinsAG MANE Select	NP_002896.2:n.569+67_569+68delinsAG
NM_001199771.3:c.569+67_569+68delinsAG	NP_001186700.1:n.569+67_569+68delinsAG