Canonical Allele Identifier: CA2796088848

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722031_55722032insT , CM000674.2:g.55722031_55722032insT	GRCh38
NC_000012.11:g.56115815_56115816insT , CM000674.1:g.56115815_56115816insT	GRCh37
NC_000012.10:g.54402082_54402083insT	NCBI36
NG_008606.1:g.6665_6666insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+84_569+85insT MANE Select	ENSP00000257895.6:n.569+84_569+85insT
ENST00000257895.9:c.569+84_569+85insT	ENSP00000257895.5:n.569+84_569+85insT
ENST00000257899.3:c.591+77_591+78insT
ENST00000547072.5:c.278+84_278+85insT	ENSP00000449927.1:n.278+84_278+85insT
ENST00000548082.1:c.569+84_569+85insT	ENSP00000447128.1:n.569+84_569+85insT
ENST00000548123.1:c.300+537_300+538insT
ENST00000548486.1:n.663_664insT
ENST00000550412.5:c.*325_*326insT	ENSP00000447650.1:n.*325_*326insT
ENST00000550608.1:n.792_793insT
ENST00000551946.5:c.*456_*457insT	ENSP00000450201.1:n.*456_*457insT
ENST00000553160.1:n.406-164_406-163insT
NM_001199771.1:c.569+84_569+85insT	NP_001186700.1:n.569+84_569+85insT
NM_002905.3:c.569+84_569+85insT	NP_002896.2:n.569+84_569+85insT
NR_037658.1:n.628+84_628+85insT
NM_001199771.2:c.569+84_569+85insT	NP_001186700.1:n.569+84_569+85insT
NM_002905.5:c.569+84_569+85insT MANE Select	NP_002896.2:n.569+84_569+85insT
NM_001199771.3:c.569+84_569+85insT	NP_001186700.1:n.569+84_569+85insT