Canonical Allele Identifier: CA2796088864

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722048_55722055del , CM000674.2:g.55722048_55722055del	GRCh38
NC_000012.11:g.56115832_56115839del , CM000674.1:g.56115832_56115839del	GRCh37
NC_000012.10:g.54402099_54402106del	NCBI36
NG_008606.1:g.6682_6689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+101_569+108del MANE Select	ENSP00000257895.6:n.569+101_569+108del
ENST00000257895.9:c.569+101_569+108del	ENSP00000257895.5:n.569+101_569+108del
ENST00000257899.3:c.591+94_591+101del
ENST00000547072.5:c.278+101_278+108del	ENSP00000449927.1:n.278+101_278+108del
ENST00000548082.1:c.569+101_569+108del	ENSP00000447128.1:n.569+101_569+108del
ENST00000548123.1:c.300+554_300+561del
ENST00000548486.1:n.680_687del
ENST00000550412.5:c.*342_*349del	ENSP00000447650.1:n.*342_*349del
ENST00000550608.1:n.809_816del
ENST00000551946.5:c.*473_*480del	ENSP00000450201.1:n.*473_*480del
ENST00000553160.1:n.406-147_406-140del
NM_001199771.1:c.569+101_569+108del	NP_001186700.1:n.569+101_569+108del
NM_002905.3:c.569+101_569+108del	NP_002896.2:n.569+101_569+108del
NR_037658.1:n.628+101_628+108del
NM_001199771.2:c.569+101_569+108del	NP_001186700.1:n.569+101_569+108del
NM_002905.5:c.569+101_569+108del MANE Select	NP_002896.2:n.569+101_569+108del
NM_001199771.3:c.569+101_569+108del	NP_001186700.1:n.569+101_569+108del