Canonical Allele Identifier: CA2038069505

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721894_55721895delinsTG , CM000674.2:g.55721894_55721895delinsTG	GRCh38
NC_000012.11:g.56115678_56115679delinsTG , CM000674.1:g.56115678_56115679delinsTG	GRCh37
NC_000012.10:g.54401945_54401946delinsTG	NCBI36
NG_008606.1:g.6528_6529delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.516_517delinsTG MANE Select	ENSP00000257895.6:p.Gly172=
ENST00000257895.9:c.516_517delinsTG	ENSP00000257895.5:p.Gly172=
ENST00000257899.3:c.531_532delinsTG
ENST00000547072.5:c.225_226delinsTG	ENSP00000449927.1:p.Gly75=
ENST00000548082.1:c.516_517delinsTG	ENSP00000447128.1:p.Gly172=
ENST00000548123.1:c.300+400_300+401delinsTG
ENST00000548486.1:n.526_527delinsTG
ENST00000550412.5:c.*188_*189delinsTG	ENSP00000447650.1:n.*188_*189delinsTG
ENST00000550608.1:n.655_656delinsTG
ENST00000551946.5:c.*319_*320delinsTG	ENSP00000450201.1:n.*319_*320delinsTG
ENST00000553160.1:n.406-301_406-300delinsTG
ENST00000553187.5:n.526_527delinsTG
NM_001199771.1:c.516_517delinsTG	NP_001186700.1:p.Gly172=
NM_002905.3:c.516_517delinsTG	NP_002896.2:p.Gly172=
NR_037658.1:n.575_576delinsTG
NM_001199771.2:c.516_517delinsTG	NP_001186700.1:p.Gly172=
NM_002905.5:c.516_517delinsTG MANE Select	NP_002896.2:p.Gly172=
NM_001199771.3:c.516_517delinsTG	NP_001186700.1:p.Gly172=