Canonical Allele Identifier: CA2796088801

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721524_55721543del , CM000674.2:g.55721524_55721543del	GRCh38
NC_000012.11:g.56115308_56115327del , CM000674.1:g.56115308_56115327del	GRCh37
NC_000012.10:g.54401575_54401594del	NCBI36
NG_008606.1:g.6158_6177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+30_310+49del MANE Select	ENSP00000257895.6:n.310+30_310+49del
ENST00000257895.9:c.310+30_310+49del	ENSP00000257895.5:n.310+30_310+49del
ENST00000257899.3:c.326-165_326-146del
ENST00000547072.5:c.19+30_19+49del	ENSP00000449927.1:n.19+30_19+49del
ENST00000547301.1:n.254_273del
ENST00000548082.1:c.310+30_310+49del	ENSP00000447128.1:n.310+30_310+49del
ENST00000548123.1:c.300+30_300+49del
ENST00000548486.1:n.320+30_320+49del
ENST00000549424.1:c.118-165_118-146del	ENSP00000447621.1:n.118-165_118-146del
ENST00000550412.5:c.352-165_352-146del	ENSP00000447650.1:n.352-165_352-146del
ENST00000550608.1:n.449+30_449+49del
ENST00000551946.5:c.*114-165_*114-146del	ENSP00000450201.1:n.*114-165_*114-146del
ENST00000552930.5:c.19+30_19+49del	ENSP00000448014.1:n.19+30_19+49del
ENST00000553160.1:n.406-671_406-652del
ENST00000553187.5:n.320+30_320+49del
NM_001199771.1:c.310+30_310+49del	NP_001186700.1:n.310+30_310+49del
NM_002905.3:c.310+30_310+49del	NP_002896.2:n.310+30_310+49del
NR_037658.1:n.370-165_370-146del
NM_001199771.2:c.310+30_310+49del	NP_001186700.1:n.310+30_310+49del
NM_002905.5:c.310+30_310+49del MANE Select	NP_002896.2:n.310+30_310+49del
NM_001199771.3:c.310+30_310+49del	NP_001186700.1:n.310+30_310+49del