Canonical Allele Identifier: CA2796088813

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721578_55721579insACA , CM000674.2:g.55721578_55721579insACA	GRCh38
NC_000012.11:g.56115362_56115363insACA , CM000674.1:g.56115362_56115363insACA	GRCh37
NC_000012.10:g.54401629_54401630insACA	NCBI36
NG_008606.1:g.6212_6213insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+84_310+85insACA MANE Select	ENSP00000257895.6:n.310+84_310+85insACA
ENST00000257895.9:c.310+84_310+85insACA	ENSP00000257895.5:n.310+84_310+85insACA
ENST00000257899.3:c.326-111_326-110insACA
ENST00000547072.5:c.19+84_19+85insACA	ENSP00000449927.1:n.19+84_19+85insACA
ENST00000547301.1:n.308_309insACA
ENST00000548082.1:c.310+84_310+85insACA	ENSP00000447128.1:n.310+84_310+85insACA
ENST00000548123.1:c.300+84_300+85insACA
ENST00000548486.1:n.320+84_320+85insACA
ENST00000549424.1:c.118-111_118-110insACA	ENSP00000447621.1:n.118-111_118-110insACA
ENST00000550412.5:c.352-111_352-110insACA	ENSP00000447650.1:n.352-111_352-110insACA
ENST00000550608.1:n.449+84_449+85insACA
ENST00000551946.5:c.*114-111_*114-110insACA	ENSP00000450201.1:n.*114-111_*114-110insACA
ENST00000552930.5:c.19+84_19+85insACA	ENSP00000448014.1:n.19+84_19+85insACA
ENST00000553160.1:n.406-617_406-616insACA
ENST00000553187.5:n.320+84_320+85insACA
NM_001199771.1:c.310+84_310+85insACA	NP_001186700.1:n.310+84_310+85insACA
NM_002905.3:c.310+84_310+85insACA	NP_002896.2:n.310+84_310+85insACA
NR_037658.1:n.370-111_370-110insACA
NM_001199771.2:c.310+84_310+85insACA	NP_001186700.1:n.310+84_310+85insACA
NM_002905.5:c.310+84_310+85insACA MANE Select	NP_002896.2:n.310+84_310+85insACA
NM_001199771.3:c.310+84_310+85insACA	NP_001186700.1:n.310+84_310+85insACA