Canonical Allele Identifier: CA2796088808

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721557_55721561del , CM000674.2:g.55721557_55721561del	GRCh38
NC_000012.11:g.56115341_56115345del , CM000674.1:g.56115341_56115345del	GRCh37
NC_000012.10:g.54401608_54401612del	NCBI36
NG_008606.1:g.6191_6195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+63_310+67del MANE Select	ENSP00000257895.6:n.310+63_310+67del
ENST00000257895.9:c.310+63_310+67del	ENSP00000257895.5:n.310+63_310+67del
ENST00000257899.3:c.326-132_326-128del
ENST00000547072.5:c.19+63_19+67del	ENSP00000449927.1:n.19+63_19+67del
ENST00000547301.1:n.287_291del
ENST00000548082.1:c.310+63_310+67del	ENSP00000447128.1:n.310+63_310+67del
ENST00000548123.1:c.300+63_300+67del
ENST00000548486.1:n.320+63_320+67del
ENST00000549424.1:c.118-132_118-128del	ENSP00000447621.1:n.118-132_118-128del
ENST00000550412.5:c.352-132_352-128del	ENSP00000447650.1:n.352-132_352-128del
ENST00000550608.1:n.449+63_449+67del
ENST00000551946.5:c.*114-132_*114-128del	ENSP00000450201.1:n.*114-132_*114-128del
ENST00000552930.5:c.19+63_19+67del	ENSP00000448014.1:n.19+63_19+67del
ENST00000553160.1:n.406-638_406-634del
ENST00000553187.5:n.320+63_320+67del
NM_001199771.1:c.310+63_310+67del	NP_001186700.1:n.310+63_310+67del
NM_002905.3:c.310+63_310+67del	NP_002896.2:n.310+63_310+67del
NR_037658.1:n.370-132_370-128del
NM_001199771.2:c.310+63_310+67del	NP_001186700.1:n.310+63_310+67del
NM_002905.5:c.310+63_310+67del MANE Select	NP_002896.2:n.310+63_310+67del
NM_001199771.3:c.310+63_310+67del	NP_001186700.1:n.310+63_310+67del