Canonical Allele Identifier: CA2796088829

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722006_55722007insA , CM000674.2:g.55722006_55722007insA	GRCh38
NC_000012.11:g.56115790_56115791insA , CM000674.1:g.56115790_56115791insA	GRCh37
NC_000012.10:g.54402057_54402058insA	NCBI36
NG_008606.1:g.6640_6641insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+59_569+60insA MANE Select	ENSP00000257895.6:n.569+59_569+60insA
ENST00000257895.9:c.569+59_569+60insA	ENSP00000257895.5:n.569+59_569+60insA
ENST00000257899.3:c.591+52_591+53insA
ENST00000547072.5:c.278+59_278+60insA	ENSP00000449927.1:n.278+59_278+60insA
ENST00000548082.1:c.569+59_569+60insA	ENSP00000447128.1:n.569+59_569+60insA
ENST00000548123.1:c.300+512_300+513insA
ENST00000548486.1:n.638_639insA
ENST00000550412.5:c.*300_*301insA	ENSP00000447650.1:n.*300_*301insA
ENST00000550608.1:n.767_768insA
ENST00000551946.5:c.*431_*432insA	ENSP00000450201.1:n.*431_*432insA
ENST00000553160.1:n.406-189_406-188insA
NM_001199771.1:c.569+59_569+60insA	NP_001186700.1:n.569+59_569+60insA
NM_002905.3:c.569+59_569+60insA	NP_002896.2:n.569+59_569+60insA
NR_037658.1:n.628+59_628+60insA
NM_001199771.2:c.569+59_569+60insA	NP_001186700.1:n.569+59_569+60insA
NM_002905.5:c.569+59_569+60insA MANE Select	NP_002896.2:n.569+59_569+60insA
NM_001199771.3:c.569+59_569+60insA	NP_001186700.1:n.569+59_569+60insA