Canonical Allele Identifier: CA2796088849

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722033_55722046del , CM000674.2:g.55722033_55722046del	GRCh38
NC_000012.11:g.56115817_56115830del , CM000674.1:g.56115817_56115830del	GRCh37
NC_000012.10:g.54402084_54402097del	NCBI36
NG_008606.1:g.6667_6680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+86_569+99del MANE Select	ENSP00000257895.6:n.569+86_569+99del
ENST00000257895.9:c.569+86_569+99del	ENSP00000257895.5:n.569+86_569+99del
ENST00000257899.3:c.591+79_591+92del
ENST00000547072.5:c.278+86_278+99del	ENSP00000449927.1:n.278+86_278+99del
ENST00000548082.1:c.569+86_569+99del	ENSP00000447128.1:n.569+86_569+99del
ENST00000548123.1:c.300+539_300+552del
ENST00000548486.1:n.665_678del
ENST00000550412.5:c.*327_*340del	ENSP00000447650.1:n.*327_*340del
ENST00000550608.1:n.794_807del
ENST00000551946.5:c.*458_*471del	ENSP00000450201.1:n.*458_*471del
ENST00000553160.1:n.406-162_406-149del
NM_001199771.1:c.569+86_569+99del	NP_001186700.1:n.569+86_569+99del
NM_002905.3:c.569+86_569+99del	NP_002896.2:n.569+86_569+99del
NR_037658.1:n.628+86_628+99del
NM_001199771.2:c.569+86_569+99del	NP_001186700.1:n.569+86_569+99del
NM_002905.5:c.569+86_569+99del MANE Select	NP_002896.2:n.569+86_569+99del
NM_001199771.3:c.569+86_569+99del	NP_001186700.1:n.569+86_569+99del