Canonical Allele Identifier: CA2038069557

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722001_55722004delinsCGTG , CM000674.2:g.55722001_55722004delinsCGTG	GRCh38
NC_000012.11:g.56115785_56115788delinsCGTG , CM000674.1:g.56115785_56115788delinsCGTG	GRCh37
NC_000012.10:g.54402052_54402055delinsCGTG	NCBI36
NG_008606.1:g.6635_6638delinsCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+54_569+57delinsCGTG MANE Select	ENSP00000257895.6:n.569+54_569+57delinsCGTG
ENST00000257895.9:c.569+54_569+57delinsCGTG	ENSP00000257895.5:n.569+54_569+57delinsCGTG
ENST00000257899.3:c.591+47_591+50delinsCGTG
ENST00000547072.5:c.278+54_278+57delinsCGTG	ENSP00000449927.1:n.278+54_278+57delinsCGTG
ENST00000548082.1:c.569+54_569+57delinsCGTG	ENSP00000447128.1:n.569+54_569+57delinsCGTG
ENST00000548123.1:c.300+507_300+510delinsCGTG
ENST00000548486.1:n.633_636delinsCGTG
ENST00000550412.5:c.*295_*298delinsCGTG	ENSP00000447650.1:n.*295_*298delinsCGTG
ENST00000550608.1:n.762_765delinsCGTG
ENST00000551946.5:c.*426_*429delinsCGTG	ENSP00000450201.1:n.*426_*429delinsCGTG
ENST00000553160.1:n.406-194_406-191delinsCGTG
NM_001199771.1:c.569+54_569+57delinsCGTG	NP_001186700.1:n.569+54_569+57delinsCGTG
NM_002905.3:c.569+54_569+57delinsCGTG	NP_002896.2:n.569+54_569+57delinsCGTG
NR_037658.1:n.628+54_628+57delinsCGTG
NM_001199771.2:c.569+54_569+57delinsCGTG	NP_001186700.1:n.569+54_569+57delinsCGTG
NM_002905.5:c.569+54_569+57delinsCGTG MANE Select	NP_002896.2:n.569+54_569+57delinsCGTG
NM_001199771.3:c.569+54_569+57delinsCGTG	NP_001186700.1:n.569+54_569+57delinsCGTG