Canonical Allele Identifier: CA2796088851

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722034_55722035insCAG , CM000674.2:g.55722034_55722035insCAG	GRCh38
NC_000012.11:g.56115818_56115819insCAG , CM000674.1:g.56115818_56115819insCAG	GRCh37
NC_000012.10:g.54402085_54402086insCAG	NCBI36
NG_008606.1:g.6668_6669insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+87_569+88insCAG MANE Select	ENSP00000257895.6:n.569+87_569+88insCAG
ENST00000257895.9:c.569+87_569+88insCAG	ENSP00000257895.5:n.569+87_569+88insCAG
ENST00000257899.3:c.591+80_591+81insCAG
ENST00000547072.5:c.278+87_278+88insCAG	ENSP00000449927.1:n.278+87_278+88insCAG
ENST00000548082.1:c.569+87_569+88insCAG	ENSP00000447128.1:n.569+87_569+88insCAG
ENST00000548123.1:c.300+540_300+541insCAG
ENST00000548486.1:n.666_667insCAG
ENST00000550412.5:c.*328_*329insCAG	ENSP00000447650.1:n.*328_*329insCAG
ENST00000550608.1:n.795_796insCAG
ENST00000551946.5:c.*459_*460insCAG	ENSP00000450201.1:n.*459_*460insCAG
ENST00000553160.1:n.406-161_406-160insCAG
NM_001199771.1:c.569+87_569+88insCAG	NP_001186700.1:n.569+87_569+88insCAG
NM_002905.3:c.569+87_569+88insCAG	NP_002896.2:n.569+87_569+88insCAG
NR_037658.1:n.628+87_628+88insCAG
NM_001199771.2:c.569+87_569+88insCAG	NP_001186700.1:n.569+87_569+88insCAG
NM_002905.5:c.569+87_569+88insCAG MANE Select	NP_002896.2:n.569+87_569+88insCAG
NM_001199771.3:c.569+87_569+88insCAG	NP_001186700.1:n.569+87_569+88insCAG