Canonical Allele Identifier: CA2619208670

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721542-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721545_55721546del , CM000674.2:g.55721545_55721546del	GRCh38
NC_000012.11:g.56115329_56115330del , CM000674.1:g.56115329_56115330del	GRCh37
NC_000012.10:g.54401596_54401597del	NCBI36
NG_008606.1:g.6179_6180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+51_310+52del MANE Select	ENSP00000257895.6:n.310+51_310+52del
ENST00000257895.9:c.310+51_310+52del	ENSP00000257895.5:n.310+51_310+52del
ENST00000257899.3:c.326-144_326-143del
ENST00000547072.5:c.19+51_19+52del	ENSP00000449927.1:n.19+51_19+52del
ENST00000547301.1:n.275_276del
ENST00000548082.1:c.310+51_310+52del	ENSP00000447128.1:n.310+51_310+52del
ENST00000548123.1:c.300+51_300+52del
ENST00000548486.1:n.320+51_320+52del
ENST00000549424.1:c.118-144_118-143del	ENSP00000447621.1:n.118-144_118-143del
ENST00000550412.5:c.352-144_352-143del	ENSP00000447650.1:n.352-144_352-143del
ENST00000550608.1:n.449+51_449+52del
ENST00000551946.5:c.*114-144_*114-143del	ENSP00000450201.1:n.*114-144_*114-143del
ENST00000552930.5:c.19+51_19+52del	ENSP00000448014.1:n.19+51_19+52del
ENST00000553160.1:n.406-650_406-649del
ENST00000553187.5:n.320+51_320+52del
NM_001199771.1:c.310+51_310+52del	NP_001186700.1:n.310+51_310+52del
NM_002905.3:c.310+51_310+52del	NP_002896.2:n.310+51_310+52del
NR_037658.1:n.370-144_370-143del
NM_001199771.2:c.310+51_310+52del	NP_001186700.1:n.310+51_310+52del
NM_002905.5:c.310+51_310+52del MANE Select	NP_002896.2:n.310+51_310+52del
NM_001199771.3:c.310+51_310+52del	NP_001186700.1:n.310+51_310+52del