Canonical Allele Identifier: CA2796088880

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722069_55722070del , CM000674.2:g.55722069_55722070del	GRCh38
NC_000012.11:g.56115853_56115854del , CM000674.1:g.56115853_56115854del	GRCh37
NC_000012.10:g.54402120_54402121del	NCBI36
NG_008606.1:g.6703_6704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+122_569+123del MANE Select	ENSP00000257895.6:n.569+122_569+123del
ENST00000257895.9:c.569+122_569+123del	ENSP00000257895.5:n.569+122_569+123del
ENST00000257899.3:c.591+115_591+116del
ENST00000547072.5:c.278+122_278+123del	ENSP00000449927.1:n.278+122_278+123del
ENST00000548082.1:c.569+122_569+123del	ENSP00000447128.1:n.569+122_569+123del
ENST00000548123.1:c.300+575_300+576del
ENST00000548486.1:n.701_702del
ENST00000550412.5:c.*363_*364del	ENSP00000447650.1:n.*363_*364del
ENST00000550608.1:n.830_831del
ENST00000551946.5:c.*494_*495del	ENSP00000450201.1:n.*494_*495del
ENST00000553160.1:n.406-126_406-125del
NM_001199771.1:c.569+122_569+123del	NP_001186700.1:n.569+122_569+123del
NM_002905.3:c.569+122_569+123del	NP_002896.2:n.569+122_569+123del
NR_037658.1:n.628+122_628+123del
NM_001199771.2:c.569+122_569+123del	NP_001186700.1:n.569+122_569+123del
NM_002905.5:c.569+122_569+123del MANE Select	NP_002896.2:n.569+122_569+123del
NM_001199771.3:c.569+122_569+123del	NP_001186700.1:n.569+122_569+123del