Canonical Allele Identifier: CA2796088866

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722057_55722058insACA , CM000674.2:g.55722057_55722058insACA	GRCh38
NC_000012.11:g.56115841_56115842insACA , CM000674.1:g.56115841_56115842insACA	GRCh37
NC_000012.10:g.54402108_54402109insACA	NCBI36
NG_008606.1:g.6691_6692insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+110_569+111insACA MANE Select	ENSP00000257895.6:n.569+110_569+111insACA
ENST00000257895.9:c.569+110_569+111insACA	ENSP00000257895.5:n.569+110_569+111insACA
ENST00000257899.3:c.591+103_591+104insACA
ENST00000547072.5:c.278+110_278+111insACA	ENSP00000449927.1:n.278+110_278+111insACA
ENST00000548082.1:c.569+110_569+111insACA	ENSP00000447128.1:n.569+110_569+111insACA
ENST00000548123.1:c.300+563_300+564insACA
ENST00000548486.1:n.689_690insACA
ENST00000550412.5:c.*351_*352insACA	ENSP00000447650.1:n.*351_*352insACA
ENST00000550608.1:n.818_819insACA
ENST00000551946.5:c.*482_*483insACA	ENSP00000450201.1:n.*482_*483insACA
ENST00000553160.1:n.406-138_406-137insACA
NM_001199771.1:c.569+110_569+111insACA	NP_001186700.1:n.569+110_569+111insACA
NM_002905.3:c.569+110_569+111insACA	NP_002896.2:n.569+110_569+111insACA
NR_037658.1:n.628+110_628+111insACA
NM_001199771.2:c.569+110_569+111insACA	NP_001186700.1:n.569+110_569+111insACA
NM_002905.5:c.569+110_569+111insACA MANE Select	NP_002896.2:n.569+110_569+111insACA
NM_001199771.3:c.569+110_569+111insACA	NP_001186700.1:n.569+110_569+111insACA