Canonical Allele Identifier: CA2796088853

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722037_55722038insA , CM000674.2:g.55722037_55722038insA	GRCh38
NC_000012.11:g.56115821_56115822insA , CM000674.1:g.56115821_56115822insA	GRCh37
NC_000012.10:g.54402088_54402089insA	NCBI36
NG_008606.1:g.6671_6672insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+90_569+91insA MANE Select	ENSP00000257895.6:n.569+90_569+91insA
ENST00000257895.9:c.569+90_569+91insA	ENSP00000257895.5:n.569+90_569+91insA
ENST00000257899.3:c.591+83_591+84insA
ENST00000547072.5:c.278+90_278+91insA	ENSP00000449927.1:n.278+90_278+91insA
ENST00000548082.1:c.569+90_569+91insA	ENSP00000447128.1:n.569+90_569+91insA
ENST00000548123.1:c.300+543_300+544insA
ENST00000548486.1:n.669_670insA
ENST00000550412.5:c.*331_*332insA	ENSP00000447650.1:n.*331_*332insA
ENST00000550608.1:n.798_799insA
ENST00000551946.5:c.*462_*463insA	ENSP00000450201.1:n.*462_*463insA
ENST00000553160.1:n.406-158_406-157insA
NM_001199771.1:c.569+90_569+91insA	NP_001186700.1:n.569+90_569+91insA
NM_002905.3:c.569+90_569+91insA	NP_002896.2:n.569+90_569+91insA
NR_037658.1:n.628+90_628+91insA
NM_001199771.2:c.569+90_569+91insA	NP_001186700.1:n.569+90_569+91insA
NM_002905.5:c.569+90_569+91insA MANE Select	NP_002896.2:n.569+90_569+91insA
NM_001199771.3:c.569+90_569+91insA	NP_001186700.1:n.569+90_569+91insA