Canonical Allele Identifier: CA690144949

Gene: RDH5

Linked Data

• dbSNP Id: rs1171778237
• gnomAD v4: 12-55722045-TAAG-T
• MyVariant Identifiers: chr12:g.56115830_56115832del (hg19) ; chr12:g.55722046_55722048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722050_55722052del , CM000674.2:g.55722050_55722052del	GRCh38
NC_000012.11:g.56115834_56115836del , CM000674.1:g.56115834_56115836del	GRCh37
NC_000012.10:g.54402101_54402103del	NCBI36
NG_008606.1:g.6684_6686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+103_569+105del MANE Select	ENSP00000257895.6:n.569+103_569+105del
ENST00000257895.9:c.569+103_569+105del	ENSP00000257895.5:n.569+103_569+105del
ENST00000257899.3:c.591+96_591+98del
ENST00000547072.5:c.278+103_278+105del	ENSP00000449927.1:n.278+103_278+105del
ENST00000548082.1:c.569+103_569+105del	ENSP00000447128.1:n.569+103_569+105del
ENST00000548123.1:c.300+556_300+558del
ENST00000548486.1:n.682_684del
ENST00000550412.5:c.*344_*346del	ENSP00000447650.1:n.*344_*346del
ENST00000550608.1:n.811_813del
ENST00000551946.5:c.*475_*477del	ENSP00000450201.1:n.*475_*477del
ENST00000553160.1:n.406-145_406-143del
NM_001199771.1:c.569+103_569+105del	NP_001186700.1:n.569+103_569+105del
NM_002905.3:c.569+103_569+105del	NP_002896.2:n.569+103_569+105del
NR_037658.1:n.628+103_628+105del
NM_001199771.2:c.569+103_569+105del	NP_001186700.1:n.569+103_569+105del
NM_002905.5:c.569+103_569+105del MANE Select	NP_002896.2:n.569+103_569+105del
NM_001199771.3:c.569+103_569+105del	NP_001186700.1:n.569+103_569+105del