Canonical Allele Identifier: CA2796088846

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722029_55722030insACT , CM000674.2:g.55722029_55722030insACT	GRCh38
NC_000012.11:g.56115813_56115814insACT , CM000674.1:g.56115813_56115814insACT	GRCh37
NC_000012.10:g.54402080_54402081insACT	NCBI36
NG_008606.1:g.6663_6664insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+82_569+83insACT MANE Select	ENSP00000257895.6:n.569+82_569+83insACT
ENST00000257895.9:c.569+82_569+83insACT	ENSP00000257895.5:n.569+82_569+83insACT
ENST00000257899.3:c.591+75_591+76insACT
ENST00000547072.5:c.278+82_278+83insACT	ENSP00000449927.1:n.278+82_278+83insACT
ENST00000548082.1:c.569+82_569+83insACT	ENSP00000447128.1:n.569+82_569+83insACT
ENST00000548123.1:c.300+535_300+536insACT
ENST00000548486.1:n.661_662insACT
ENST00000550412.5:c.*323_*324insACT	ENSP00000447650.1:n.*323_*324insACT
ENST00000550608.1:n.790_791insACT
ENST00000551946.5:c.*454_*455insACT	ENSP00000450201.1:n.*454_*455insACT
ENST00000553160.1:n.406-166_406-165insACT
NM_001199771.1:c.569+82_569+83insACT	NP_001186700.1:n.569+82_569+83insACT
NM_002905.3:c.569+82_569+83insACT	NP_002896.2:n.569+82_569+83insACT
NR_037658.1:n.628+82_628+83insACT
NM_001199771.2:c.569+82_569+83insACT	NP_001186700.1:n.569+82_569+83insACT
NM_002905.5:c.569+82_569+83insACT MANE Select	NP_002896.2:n.569+82_569+83insACT
NM_001199771.3:c.569+82_569+83insACT	NP_001186700.1:n.569+82_569+83insACT