Canonical Allele Identifier: CA2527186324

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721966_55721967insCCCAATTCA , CM000674.2:g.55721966_55721967insCCCAATTCA	GRCh38
NC_000012.11:g.56115750_56115751insCCCAATTCA , CM000674.1:g.56115750_56115751insCCCAATTCA	GRCh37
NC_000012.10:g.54402017_54402018insCCCAATTCA	NCBI36
NG_008606.1:g.6600_6601insCCCAATTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+19_569+20insCCCAATTCA MANE Select	ENSP00000257895.6:n.569+19_569+20insCCCAATTCA
ENST00000257895.9:c.569+19_569+20insCCCAATTCA	ENSP00000257895.5:n.569+19_569+20insCCCAATTCA
ENST00000257899.3:c.591+12_591+13insCCCAATTCA
ENST00000547072.5:c.278+19_278+20insCCCAATTCA	ENSP00000449927.1:n.278+19_278+20insCCCAATTCA
ENST00000548082.1:c.569+19_569+20insCCCAATTCA	ENSP00000447128.1:n.569+19_569+20insCCCAATTCA
ENST00000548123.1:c.300+472_300+473insCCCAATTCA
ENST00000548486.1:n.598_599insCCCAATTCA
ENST00000550412.5:c.*260_*261insCCCAATTCA	ENSP00000447650.1:n.*260_*261insCCCAATTCA
ENST00000550608.1:n.727_728insCCCAATTCA
ENST00000551946.5:c.*391_*392insCCCAATTCA	ENSP00000450201.1:n.*391_*392insCCCAATTCA
ENST00000553160.1:n.406-229_406-228insCCCAATTCA
ENST00000553187.5:n.598_599insCCCAATTCA
NM_001199771.1:c.569+19_569+20insCCCAATTCA	NP_001186700.1:n.569+19_569+20insCCCAATTCA
NM_002905.3:c.569+19_569+20insCCCAATTCA	NP_002896.2:n.569+19_569+20insCCCAATTCA
NR_037658.1:n.628+19_628+20insCCCAATTCA
NM_001199771.2:c.569+19_569+20insCCCAATTCA	NP_001186700.1:n.569+19_569+20insCCCAATTCA
NM_002905.5:c.569+19_569+20insCCCAATTCA MANE Select	NP_002896.2:n.569+19_569+20insCCCAATTCA
NM_001199771.3:c.569+19_569+20insCCCAATTCA	NP_001186700.1:n.569+19_569+20insCCCAATTCA