Canonical Allele Identifier: CA2796088807
Gene: RDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55721556_55721557insA , CM000674.2:g.55721556_55721557insA GRCh38
NC_000012.11:g.56115340_56115341insA , CM000674.1:g.56115340_56115341insA GRCh37
NC_000012.10:g.54401607_54401608insA NCBI36
NG_008606.1:g.6190_6191insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.310+62_310+63insA MANE Select ENSP00000257895.6:n.310+62_310+63insA
ENST00000257895.9:c.310+62_310+63insA ENSP00000257895.5:n.310+62_310+63insA
ENST00000257899.3:c.326-133_326-132insA
ENST00000547072.5:c.19+62_19+63insA ENSP00000449927.1:n.19+62_19+63insA
ENST00000547301.1:n.286_287insA
ENST00000548082.1:c.310+62_310+63insA ENSP00000447128.1:n.310+62_310+63insA
ENST00000548123.1:c.300+62_300+63insA
ENST00000548486.1:n.320+62_320+63insA
ENST00000549424.1:c.118-133_118-132insA ENSP00000447621.1:n.118-133_118-132insA
ENST00000550412.5:c.352-133_352-132insA ENSP00000447650.1:n.352-133_352-132insA
ENST00000550608.1:n.449+62_449+63insA
ENST00000551946.5:c.*114-133_*114-132insA ENSP00000450201.1:n.*114-133_*114-132insA
ENST00000552930.5:c.19+62_19+63insA ENSP00000448014.1:n.19+62_19+63insA
ENST00000553160.1:n.406-639_406-638insA
ENST00000553187.5:n.320+62_320+63insA
NM_001199771.1:c.310+62_310+63insA NP_001186700.1:n.310+62_310+63insA
NM_002905.3:c.310+62_310+63insA NP_002896.2:n.310+62_310+63insA
NR_037658.1:n.370-133_370-132insA
NM_001199771.2:c.310+62_310+63insA NP_001186700.1:n.310+62_310+63insA
NM_002905.5:c.310+62_310+63insA MANE Select NP_002896.2:n.310+62_310+63insA
NM_001199771.3:c.310+62_310+63insA NP_001186700.1:n.310+62_310+63insA