Canonical Allele Identifier: CA2619204834
Gene: RDH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55721984_55721991del , CM000674.2:g.55721984_55721991del GRCh38
NC_000012.11:g.56115768_56115775del , CM000674.1:g.56115768_56115775del GRCh37
NC_000012.10:g.54402035_54402042del NCBI36
NG_008606.1:g.6618_6625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.569+37_569+44del MANE Select ENSP00000257895.6:n.569+37_569+44del
ENST00000257895.9:c.569+37_569+44del ENSP00000257895.5:n.569+37_569+44del
ENST00000257899.3:c.591+30_591+37del
ENST00000547072.5:c.278+37_278+44del ENSP00000449927.1:n.278+37_278+44del
ENST00000548082.1:c.569+37_569+44del ENSP00000447128.1:n.569+37_569+44del
ENST00000548123.1:c.300+490_300+497del
ENST00000548486.1:n.616_623del
ENST00000550412.5:c.*278_*285del ENSP00000447650.1:n.*278_*285del
ENST00000550608.1:n.745_752del
ENST00000551946.5:c.*409_*416del ENSP00000450201.1:n.*409_*416del
ENST00000553160.1:n.406-211_406-204del
ENST00000553187.5:n.616_623del
NM_001199771.1:c.569+37_569+44del NP_001186700.1:n.569+37_569+44del
NM_002905.3:c.569+37_569+44del NP_002896.2:n.569+37_569+44del
NR_037658.1:n.628+37_628+44del
NM_001199771.2:c.569+37_569+44del NP_001186700.1:n.569+37_569+44del
NM_002905.5:c.569+37_569+44del MANE Select NP_002896.2:n.569+37_569+44del
NM_001199771.3:c.569+37_569+44del NP_001186700.1:n.569+37_569+44del