Canonical Allele Identifier: CA2038069554

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721993_55721996delinsTCAA , CM000674.2:g.55721993_55721996delinsTCAA	GRCh38
NC_000012.11:g.56115777_56115780delinsTCAA , CM000674.1:g.56115777_56115780delinsTCAA	GRCh37
NC_000012.10:g.54402044_54402047delinsTCAA	NCBI36
NG_008606.1:g.6627_6630delinsTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+46_569+49delinsTCAA MANE Select	ENSP00000257895.6:n.569+46_569+49delinsTCAA
ENST00000257895.9:c.569+46_569+49delinsTCAA	ENSP00000257895.5:n.569+46_569+49delinsTCAA
ENST00000257899.3:c.591+39_591+42delinsTCAA
ENST00000547072.5:c.278+46_278+49delinsTCAA	ENSP00000449927.1:n.278+46_278+49delinsTCAA
ENST00000548082.1:c.569+46_569+49delinsTCAA	ENSP00000447128.1:n.569+46_569+49delinsTCAA
ENST00000548123.1:c.300+499_300+502delinsTCAA
ENST00000548486.1:n.625_628delinsTCAA
ENST00000550412.5:c.*287_*290delinsTCAA	ENSP00000447650.1:n.*287_*290delinsTCAA
ENST00000550608.1:n.754_757delinsTCAA
ENST00000551946.5:c.*418_*421delinsTCAA	ENSP00000450201.1:n.*418_*421delinsTCAA
ENST00000553160.1:n.406-202_406-199delinsTCAA
NM_001199771.1:c.569+46_569+49delinsTCAA	NP_001186700.1:n.569+46_569+49delinsTCAA
NM_002905.3:c.569+46_569+49delinsTCAA	NP_002896.2:n.569+46_569+49delinsTCAA
NR_037658.1:n.628+46_628+49delinsTCAA
NM_001199771.2:c.569+46_569+49delinsTCAA	NP_001186700.1:n.569+46_569+49delinsTCAA
NM_002905.5:c.569+46_569+49delinsTCAA MANE Select	NP_002896.2:n.569+46_569+49delinsTCAA
NM_001199771.3:c.569+46_569+49delinsTCAA	NP_001186700.1:n.569+46_569+49delinsTCAA