Canonical Allele Identifier: CA2796088855

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722038_55722041del , CM000674.2:g.55722038_55722041del	GRCh38
NC_000012.11:g.56115822_56115825del , CM000674.1:g.56115822_56115825del	GRCh37
NC_000012.10:g.54402089_54402092del	NCBI36
NG_008606.1:g.6672_6675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+91_569+94del MANE Select	ENSP00000257895.6:n.569+91_569+94del
ENST00000257895.9:c.569+91_569+94del	ENSP00000257895.5:n.569+91_569+94del
ENST00000257899.3:c.591+84_591+87del
ENST00000547072.5:c.278+91_278+94del	ENSP00000449927.1:n.278+91_278+94del
ENST00000548082.1:c.569+91_569+94del	ENSP00000447128.1:n.569+91_569+94del
ENST00000548123.1:c.300+544_300+547del
ENST00000548486.1:n.670_673del
ENST00000550412.5:c.*332_*335del	ENSP00000447650.1:n.*332_*335del
ENST00000550608.1:n.799_802del
ENST00000551946.5:c.*463_*466del	ENSP00000450201.1:n.*463_*466del
ENST00000553160.1:n.406-157_406-154del
NM_001199771.1:c.569+91_569+94del	NP_001186700.1:n.569+91_569+94del
NM_002905.3:c.569+91_569+94del	NP_002896.2:n.569+91_569+94del
NR_037658.1:n.628+91_628+94del
NM_001199771.2:c.569+91_569+94del	NP_001186700.1:n.569+91_569+94del
NM_002905.5:c.569+91_569+94del MANE Select	NP_002896.2:n.569+91_569+94del
NM_001199771.3:c.569+91_569+94del	NP_001186700.1:n.569+91_569+94del