Canonical Allele Identifier: CA2619204892

Gene: RDH5

Linked Data

• gnomAD v4: 12-55722006-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722008del , CM000674.2:g.55722008del	GRCh38
NC_000012.11:g.56115792del , CM000674.1:g.56115792del	GRCh37
NC_000012.10:g.54402059del	NCBI36
NG_008606.1:g.6642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+61del MANE Select	ENSP00000257895.6:n.569+61del
ENST00000257895.9:c.569+61del	ENSP00000257895.5:n.569+61del
ENST00000257899.3:c.591+54del
ENST00000547072.5:c.278+61del	ENSP00000449927.1:n.278+61del
ENST00000548082.1:c.569+61del	ENSP00000447128.1:n.569+61del
ENST00000548123.1:c.300+514del
ENST00000548486.1:n.640del
ENST00000550412.5:c.*302del	ENSP00000447650.1:n.*302del
ENST00000550608.1:n.769del
ENST00000551946.5:c.*433del	ENSP00000450201.1:n.*433del
ENST00000553160.1:n.406-187del
NM_001199771.1:c.569+61del	NP_001186700.1:n.569+61del
NM_002905.3:c.569+61del	NP_002896.2:n.569+61del
NR_037658.1:n.628+61del
NM_001199771.2:c.569+61del	NP_001186700.1:n.569+61del
NM_002905.5:c.569+61del MANE Select	NP_002896.2:n.569+61del
NM_001199771.3:c.569+61del	NP_001186700.1:n.569+61del