Canonical Allele Identifier: CA2796088840

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722022_55722023insGTC , CM000674.2:g.55722022_55722023insGTC	GRCh38
NC_000012.11:g.56115806_56115807insGTC , CM000674.1:g.56115806_56115807insGTC	GRCh37
NC_000012.10:g.54402073_54402074insGTC	NCBI36
NG_008606.1:g.6656_6657insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+75_569+76insGTC MANE Select	ENSP00000257895.6:n.569+75_569+76insGTC
ENST00000257895.9:c.569+75_569+76insGTC	ENSP00000257895.5:n.569+75_569+76insGTC
ENST00000257899.3:c.591+68_591+69insGTC
ENST00000547072.5:c.278+75_278+76insGTC	ENSP00000449927.1:n.278+75_278+76insGTC
ENST00000548082.1:c.569+75_569+76insGTC	ENSP00000447128.1:n.569+75_569+76insGTC
ENST00000548123.1:c.300+528_300+529insGTC
ENST00000548486.1:n.654_655insGTC
ENST00000550412.5:c.*316_*317insGTC	ENSP00000447650.1:n.*316_*317insGTC
ENST00000550608.1:n.783_784insGTC
ENST00000551946.5:c.*447_*448insGTC	ENSP00000450201.1:n.*447_*448insGTC
ENST00000553160.1:n.406-173_406-172insGTC
NM_001199771.1:c.569+75_569+76insGTC	NP_001186700.1:n.569+75_569+76insGTC
NM_002905.3:c.569+75_569+76insGTC	NP_002896.2:n.569+75_569+76insGTC
NR_037658.1:n.628+75_628+76insGTC
NM_001199771.2:c.569+75_569+76insGTC	NP_001186700.1:n.569+75_569+76insGTC
NM_002905.5:c.569+75_569+76insGTC MANE Select	NP_002896.2:n.569+75_569+76insGTC
NM_001199771.3:c.569+75_569+76insGTC	NP_001186700.1:n.569+75_569+76insGTC