Canonical Allele Identifier: CA2619204726

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721915-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721918del , CM000674.2:g.55721918del	GRCh38
NC_000012.11:g.56115702del , CM000674.1:g.56115702del	GRCh37
NC_000012.10:g.54401969del	NCBI36
NG_008606.1:g.6552del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.540del MANE Select	ENSP00000257895.6:p.Phe180LeufsTer10
ENST00000257895.9:c.540del	ENSP00000257895.5:p.Phe180LeufsTer10
ENST00000257899.3:c.555del
ENST00000547072.5:c.249del	ENSP00000449927.1:p.Phe83LeufsTer10
ENST00000548082.1:c.540del	ENSP00000447128.1:p.Phe180LeufsTer10
ENST00000548123.1:c.300+424del
ENST00000548486.1:n.550del
ENST00000550412.5:c.*212del	ENSP00000447650.1:n.*212del
ENST00000550608.1:n.679del
ENST00000551946.5:c.*343del	ENSP00000450201.1:n.*343del
ENST00000553160.1:n.406-277del
ENST00000553187.5:n.550del
NM_001199771.1:c.540del	NP_001186700.1:p.Phe180LeufsTer10
NM_002905.3:c.540del	NP_002896.2:p.Phe180LeufsTer10
NR_037658.1:n.599del
NM_001199771.2:c.540del	NP_001186700.1:p.Phe180LeufsTer10
NM_002905.5:c.540del MANE Select	NP_002896.2:p.Phe180LeufsTer10
NM_001199771.3:c.540del	NP_001186700.1:p.Phe180LeufsTer10