Canonical Allele Identifier: CA2619204715

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721903-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721907_55721908del , CM000674.2:g.55721907_55721908del	GRCh38
NC_000012.11:g.56115691_56115692del , CM000674.1:g.56115691_56115692del	GRCh37
NC_000012.10:g.54401958_54401959del	NCBI36
NG_008606.1:g.6541_6542del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.529_530del MANE Select	ENSP00000257895.6:p.Val177LeufsTer10
ENST00000257895.9:c.529_530del	ENSP00000257895.5:p.Val177LeufsTer10
ENST00000257899.3:c.544_545del
ENST00000547072.5:c.238_239del	ENSP00000449927.1:p.Val80LeufsTer10
ENST00000548082.1:c.529_530del	ENSP00000447128.1:p.Val177LeufsTer10
ENST00000548123.1:c.300+413_300+414del
ENST00000548486.1:n.539_540del
ENST00000550412.5:c.*201_*202del	ENSP00000447650.1:n.*201_*202del
ENST00000550608.1:n.668_669del
ENST00000551946.5:c.*332_*333del	ENSP00000450201.1:n.*332_*333del
ENST00000553160.1:n.406-288_406-287del
ENST00000553187.5:n.539_540del
NM_001199771.1:c.529_530del	NP_001186700.1:p.Val177LeufsTer10
NM_002905.3:c.529_530del	NP_002896.2:p.Val177LeufsTer10
NR_037658.1:n.588_589del
NM_001199771.2:c.529_530del	NP_001186700.1:p.Val177LeufsTer10
NM_002905.5:c.529_530del MANE Select	NP_002896.2:p.Val177LeufsTer10
NM_001199771.3:c.529_530del	NP_001186700.1:p.Val177LeufsTer10