Canonical Allele Identifier: CA690144946

Gene: RDH5

Linked Data

• dbSNP Id: rs1402021528
• MyVariant Identifiers: chr12:g.56115806_56115812del (hg19) ; chr12:g.55722022_55722028del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722023_55722029del , CM000674.2:g.55722023_55722029del	GRCh38
NC_000012.11:g.56115807_56115813del , CM000674.1:g.56115807_56115813del	GRCh37
NC_000012.10:g.54402074_54402080del	NCBI36
NG_008606.1:g.6657_6663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+76_569+82del MANE Select	ENSP00000257895.6:n.569+76_569+82del
ENST00000257895.9:c.569+76_569+82del	ENSP00000257895.5:n.569+76_569+82del
ENST00000257899.3:c.591+69_591+75del
ENST00000547072.5:c.278+76_278+82del	ENSP00000449927.1:n.278+76_278+82del
ENST00000548082.1:c.569+76_569+82del	ENSP00000447128.1:n.569+76_569+82del
ENST00000548123.1:c.300+529_300+535del
ENST00000548486.1:n.655_661del
ENST00000550412.5:c.*317_*323del	ENSP00000447650.1:n.*317_*323del
ENST00000550608.1:n.784_790del
ENST00000551946.5:c.*448_*454del	ENSP00000450201.1:n.*448_*454del
ENST00000553160.1:n.406-172_406-166del
NM_001199771.1:c.569+76_569+82del	NP_001186700.1:n.569+76_569+82del
NM_002905.3:c.569+76_569+82del	NP_002896.2:n.569+76_569+82del
NR_037658.1:n.628+76_628+82del
NM_001199771.2:c.569+76_569+82del	NP_001186700.1:n.569+76_569+82del
NM_002905.5:c.569+76_569+82del MANE Select	NP_002896.2:n.569+76_569+82del
NM_001199771.3:c.569+76_569+82del	NP_001186700.1:n.569+76_569+82del