Canonical Allele Identifier: CA2796088837

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722020_55722026del , CM000674.2:g.55722020_55722026del	GRCh38
NC_000012.11:g.56115804_56115810del , CM000674.1:g.56115804_56115810del	GRCh37
NC_000012.10:g.54402071_54402077del	NCBI36
NG_008606.1:g.6654_6660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+73_569+79del MANE Select	ENSP00000257895.6:n.569+73_569+79del
ENST00000257895.9:c.569+73_569+79del	ENSP00000257895.5:n.569+73_569+79del
ENST00000257899.3:c.591+66_591+72del
ENST00000547072.5:c.278+73_278+79del	ENSP00000449927.1:n.278+73_278+79del
ENST00000548082.1:c.569+73_569+79del	ENSP00000447128.1:n.569+73_569+79del
ENST00000548123.1:c.300+526_300+532del
ENST00000548486.1:n.652_658del
ENST00000550412.5:c.*314_*320del	ENSP00000447650.1:n.*314_*320del
ENST00000550608.1:n.781_787del
ENST00000551946.5:c.*445_*451del	ENSP00000450201.1:n.*445_*451del
ENST00000553160.1:n.406-175_406-169del
NM_001199771.1:c.569+73_569+79del	NP_001186700.1:n.569+73_569+79del
NM_002905.3:c.569+73_569+79del	NP_002896.2:n.569+73_569+79del
NR_037658.1:n.628+73_628+79del
NM_001199771.2:c.569+73_569+79del	NP_001186700.1:n.569+73_569+79del
NM_002905.5:c.569+73_569+79del MANE Select	NP_002896.2:n.569+73_569+79del
NM_001199771.3:c.569+73_569+79del	NP_001186700.1:n.569+73_569+79del