Canonical Allele Identifier: CA2619208666

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721534-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721535_55721537del , CM000674.2:g.55721535_55721537del	GRCh38
NC_000012.11:g.56115319_56115321del , CM000674.1:g.56115319_56115321del	GRCh37
NC_000012.10:g.54401586_54401588del	NCBI36
NG_008606.1:g.6169_6171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+41_310+43del MANE Select	ENSP00000257895.6:n.310+41_310+43del
ENST00000257895.9:c.310+41_310+43del	ENSP00000257895.5:n.310+41_310+43del
ENST00000257899.3:c.326-154_326-152del
ENST00000547072.5:c.19+41_19+43del	ENSP00000449927.1:n.19+41_19+43del
ENST00000547301.1:n.265_267del
ENST00000548082.1:c.310+41_310+43del	ENSP00000447128.1:n.310+41_310+43del
ENST00000548123.1:c.300+41_300+43del
ENST00000548486.1:n.320+41_320+43del
ENST00000549424.1:c.118-154_118-152del	ENSP00000447621.1:n.118-154_118-152del
ENST00000550412.5:c.352-154_352-152del	ENSP00000447650.1:n.352-154_352-152del
ENST00000550608.1:n.449+41_449+43del
ENST00000551946.5:c.*114-154_*114-152del	ENSP00000450201.1:n.*114-154_*114-152del
ENST00000552930.5:c.19+41_19+43del	ENSP00000448014.1:n.19+41_19+43del
ENST00000553160.1:n.406-660_406-658del
ENST00000553187.5:n.320+41_320+43del
NM_001199771.1:c.310+41_310+43del	NP_001186700.1:n.310+41_310+43del
NM_002905.3:c.310+41_310+43del	NP_002896.2:n.310+41_310+43del
NR_037658.1:n.370-154_370-152del
NM_001199771.2:c.310+41_310+43del	NP_001186700.1:n.310+41_310+43del
NM_002905.5:c.310+41_310+43del MANE Select	NP_002896.2:n.310+41_310+43del
NM_001199771.3:c.310+41_310+43del	NP_001186700.1:n.310+41_310+43del