Canonical Allele Identifier: CA2038069567
Gene: RDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55722045_55722048delinsTAAG , CM000674.2:g.55722045_55722048delinsTAAG GRCh38
NC_000012.11:g.56115829_56115832delinsTAAG , CM000674.1:g.56115829_56115832delinsTAAG GRCh37
NC_000012.10:g.54402096_54402099delinsTAAG NCBI36
NG_008606.1:g.6679_6682delinsTAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.569+98_569+101delinsTAAG MANE Select ENSP00000257895.6:n.569+98_569+101delinsTAAG
ENST00000257895.9:c.569+98_569+101delinsTAAG ENSP00000257895.5:n.569+98_569+101delinsTAAG
ENST00000257899.3:c.591+91_591+94delinsTAAG
ENST00000547072.5:c.278+98_278+101delinsTAAG ENSP00000449927.1:n.278+98_278+101delinsTAAG
ENST00000548082.1:c.569+98_569+101delinsTAAG ENSP00000447128.1:n.569+98_569+101delinsTAAG
ENST00000548123.1:c.300+551_300+554delinsTAAG
ENST00000548486.1:n.677_680delinsTAAG
ENST00000550412.5:c.*339_*342delinsTAAG ENSP00000447650.1:n.*339_*342delinsTAAG
ENST00000550608.1:n.806_809delinsTAAG
ENST00000551946.5:c.*470_*473delinsTAAG ENSP00000450201.1:n.*470_*473delinsTAAG
ENST00000553160.1:n.406-150_406-147delinsTAAG
NM_001199771.1:c.569+98_569+101delinsTAAG NP_001186700.1:n.569+98_569+101delinsTAAG
NM_002905.3:c.569+98_569+101delinsTAAG NP_002896.2:n.569+98_569+101delinsTAAG
NR_037658.1:n.628+98_628+101delinsTAAG
NM_001199771.2:c.569+98_569+101delinsTAAG NP_001186700.1:n.569+98_569+101delinsTAAG
NM_002905.5:c.569+98_569+101delinsTAAG MANE Select NP_002896.2:n.569+98_569+101delinsTAAG
NM_001199771.3:c.569+98_569+101delinsTAAG NP_001186700.1:n.569+98_569+101delinsTAAG