Canonical Allele Identifier: CA2796088869
Gene: RDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55722059_55722060insACA , CM000674.2:g.55722059_55722060insACA GRCh38
NC_000012.11:g.56115843_56115844insACA , CM000674.1:g.56115843_56115844insACA GRCh37
NC_000012.10:g.54402110_54402111insACA NCBI36
NG_008606.1:g.6693_6694insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.569+112_569+113insACA MANE Select ENSP00000257895.6:n.569+112_569+113insACA
ENST00000257895.9:c.569+112_569+113insACA ENSP00000257895.5:n.569+112_569+113insACA
ENST00000257899.3:c.591+105_591+106insACA
ENST00000547072.5:c.278+112_278+113insACA ENSP00000449927.1:n.278+112_278+113insACA
ENST00000548082.1:c.569+112_569+113insACA ENSP00000447128.1:n.569+112_569+113insACA
ENST00000548123.1:c.300+565_300+566insACA
ENST00000548486.1:n.691_692insACA
ENST00000550412.5:c.*353_*354insACA ENSP00000447650.1:n.*353_*354insACA
ENST00000550608.1:n.820_821insACA
ENST00000551946.5:c.*484_*485insACA ENSP00000450201.1:n.*484_*485insACA
ENST00000553160.1:n.406-136_406-135insACA
NM_001199771.1:c.569+112_569+113insACA NP_001186700.1:n.569+112_569+113insACA
NM_002905.3:c.569+112_569+113insACA NP_002896.2:n.569+112_569+113insACA
NR_037658.1:n.628+112_628+113insACA
NM_001199771.2:c.569+112_569+113insACA NP_001186700.1:n.569+112_569+113insACA
NM_002905.5:c.569+112_569+113insACA MANE Select NP_002896.2:n.569+112_569+113insACA
NM_001199771.3:c.569+112_569+113insACA NP_001186700.1:n.569+112_569+113insACA