Canonical Allele Identifier: CA2619204973

Gene: RDH5

Linked Data

• gnomAD v4: 12-55722057-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722060del , CM000674.2:g.55722060del	GRCh38
NC_000012.11:g.56115844del , CM000674.1:g.56115844del	GRCh37
NC_000012.10:g.54402111del	NCBI36
NG_008606.1:g.6694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+113del MANE Select	ENSP00000257895.6:n.569+113del
ENST00000257895.9:c.569+113del	ENSP00000257895.5:n.569+113del
ENST00000257899.3:c.591+106del
ENST00000547072.5:c.278+113del	ENSP00000449927.1:n.278+113del
ENST00000548082.1:c.569+113del	ENSP00000447128.1:n.569+113del
ENST00000548123.1:c.300+566del
ENST00000548486.1:n.692del
ENST00000550412.5:c.*354del	ENSP00000447650.1:n.*354del
ENST00000550608.1:n.821del
ENST00000551946.5:c.*485del	ENSP00000450201.1:n.*485del
ENST00000553160.1:n.406-135del
NM_001199771.1:c.569+113del	NP_001186700.1:n.569+113del
NM_002905.3:c.569+113del	NP_002896.2:n.569+113del
NR_037658.1:n.628+113del
NM_001199771.2:c.569+113del	NP_001186700.1:n.569+113del
NM_002905.5:c.569+113del MANE Select	NP_002896.2:n.569+113del
NM_001199771.3:c.569+113del	NP_001186700.1:n.569+113del