Canonical Allele Identifier: CA2796088814

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721579_55721580del , CM000674.2:g.55721579_55721580del	GRCh38
NC_000012.11:g.56115363_56115364del , CM000674.1:g.56115363_56115364del	GRCh37
NC_000012.10:g.54401630_54401631del	NCBI36
NG_008606.1:g.6213_6214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+85_310+86del MANE Select	ENSP00000257895.6:n.310+85_310+86del
ENST00000257895.9:c.310+85_310+86del	ENSP00000257895.5:n.310+85_310+86del
ENST00000257899.3:c.326-110_326-109del
ENST00000547072.5:c.19+85_19+86del	ENSP00000449927.1:n.19+85_19+86del
ENST00000547301.1:n.309_310del
ENST00000548082.1:c.310+85_310+86del	ENSP00000447128.1:n.310+85_310+86del
ENST00000548123.1:c.300+85_300+86del
ENST00000548486.1:n.320+85_320+86del
ENST00000549424.1:c.118-110_118-109del	ENSP00000447621.1:n.118-110_118-109del
ENST00000550412.5:c.352-110_352-109del	ENSP00000447650.1:n.352-110_352-109del
ENST00000550608.1:n.449+85_449+86del
ENST00000551946.5:c.*114-110_*114-109del	ENSP00000450201.1:n.*114-110_*114-109del
ENST00000552930.5:c.19+85_19+86del	ENSP00000448014.1:n.19+85_19+86del
ENST00000553160.1:n.406-616_406-615del
ENST00000553187.5:n.320+85_320+86del
NM_001199771.1:c.310+85_310+86del	NP_001186700.1:n.310+85_310+86del
NM_002905.3:c.310+85_310+86del	NP_002896.2:n.310+85_310+86del
NR_037658.1:n.370-110_370-109del
NM_001199771.2:c.310+85_310+86del	NP_001186700.1:n.310+85_310+86del
NM_002905.5:c.310+85_310+86del MANE Select	NP_002896.2:n.310+85_310+86del
NM_001199771.3:c.310+85_310+86del	NP_001186700.1:n.310+85_310+86del