Canonical Allele Identifier: CA2619208681

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721571-GGCTGTGGTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721575_55721584del , CM000674.2:g.55721575_55721584del	GRCh38
NC_000012.11:g.56115359_56115368del , CM000674.1:g.56115359_56115368del	GRCh37
NC_000012.10:g.54401626_54401635del	NCBI36
NG_008606.1:g.6209_6218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+81_310+90del MANE Select	ENSP00000257895.6:n.310+81_310+90del
ENST00000257895.9:c.310+81_310+90del	ENSP00000257895.5:n.310+81_310+90del
ENST00000257899.3:c.326-114_326-105del
ENST00000547072.5:c.19+81_19+90del	ENSP00000449927.1:n.19+81_19+90del
ENST00000547301.1:n.305_314del
ENST00000548082.1:c.310+81_310+90del	ENSP00000447128.1:n.310+81_310+90del
ENST00000548123.1:c.300+81_300+90del
ENST00000548486.1:n.320+81_320+90del
ENST00000549424.1:c.118-114_118-105del	ENSP00000447621.1:n.118-114_118-105del
ENST00000550412.5:c.352-114_352-105del	ENSP00000447650.1:n.352-114_352-105del
ENST00000550608.1:n.449+81_449+90del
ENST00000551946.5:c.*114-114_*114-105del	ENSP00000450201.1:n.*114-114_*114-105del
ENST00000552930.5:c.19+81_19+90del	ENSP00000448014.1:n.19+81_19+90del
ENST00000553160.1:n.406-620_406-611del
ENST00000553187.5:n.320+81_320+90del
NM_001199771.1:c.310+81_310+90del	NP_001186700.1:n.310+81_310+90del
NM_002905.3:c.310+81_310+90del	NP_002896.2:n.310+81_310+90del
NR_037658.1:n.370-114_370-105del
NM_001199771.2:c.310+81_310+90del	NP_001186700.1:n.310+81_310+90del
NM_002905.5:c.310+81_310+90del MANE Select	NP_002896.2:n.310+81_310+90del
NM_001199771.3:c.310+81_310+90del	NP_001186700.1:n.310+81_310+90del