Canonical Allele Identifier: CA2796088817

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721589_55721590insA , CM000674.2:g.55721589_55721590insA	GRCh38
NC_000012.11:g.56115373_56115374insA , CM000674.1:g.56115373_56115374insA	GRCh37
NC_000012.10:g.54401640_54401641insA	NCBI36
NG_008606.1:g.6223_6224insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+95_310+96insA MANE Select	ENSP00000257895.6:n.310+95_310+96insA
ENST00000257895.9:c.310+95_310+96insA	ENSP00000257895.5:n.310+95_310+96insA
ENST00000257899.3:c.326-100_326-99insA
ENST00000547072.5:c.19+95_19+96insA	ENSP00000449927.1:n.19+95_19+96insA
ENST00000547301.1:n.319_320insA
ENST00000548082.1:c.310+95_310+96insA	ENSP00000447128.1:n.310+95_310+96insA
ENST00000548123.1:c.300+95_300+96insA
ENST00000548486.1:n.320+95_320+96insA
ENST00000549424.1:c.118-100_118-99insA	ENSP00000447621.1:n.118-100_118-99insA
ENST00000550412.5:c.352-100_352-99insA	ENSP00000447650.1:n.352-100_352-99insA
ENST00000550608.1:n.449+95_449+96insA
ENST00000551946.5:c.*114-100_*114-99insA	ENSP00000450201.1:n.*114-100_*114-99insA
ENST00000552930.5:c.19+95_19+96insA	ENSP00000448014.1:n.19+95_19+96insA
ENST00000553160.1:n.406-606_406-605insA
ENST00000553187.5:n.320+95_320+96insA
NM_001199771.1:c.310+95_310+96insA	NP_001186700.1:n.310+95_310+96insA
NM_002905.3:c.310+95_310+96insA	NP_002896.2:n.310+95_310+96insA
NR_037658.1:n.370-100_370-99insA
NM_001199771.2:c.310+95_310+96insA	NP_001186700.1:n.310+95_310+96insA
NM_002905.5:c.310+95_310+96insA MANE Select	NP_002896.2:n.310+95_310+96insA
NM_001199771.3:c.310+95_310+96insA	NP_001186700.1:n.310+95_310+96insA