Canonical Allele Identifier: CA947931163

Gene: RDH5

Linked Data

• gnomAD v3: 12-55721969-GTT-G
• gnomAD v4: 12-55721969-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721970_55721971del , CM000674.2:g.55721970_55721971del	GRCh38
NC_000012.11:g.56115754_56115755del , CM000674.1:g.56115754_56115755del	GRCh37
NC_000012.10:g.54402021_54402022del	NCBI36
NG_008606.1:g.6604_6605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+23_569+24del MANE Select	ENSP00000257895.6:n.569+23_569+24del
ENST00000257895.9:c.569+23_569+24del	ENSP00000257895.5:n.569+23_569+24del
ENST00000257899.3:c.591+16_591+17del
ENST00000547072.5:c.278+23_278+24del	ENSP00000449927.1:n.278+23_278+24del
ENST00000548082.1:c.569+23_569+24del	ENSP00000447128.1:n.569+23_569+24del
ENST00000548123.1:c.300+476_300+477del
ENST00000548486.1:n.602_603del
ENST00000550412.5:c.*264_*265del	ENSP00000447650.1:n.*264_*265del
ENST00000550608.1:n.731_732del
ENST00000551946.5:c.*395_*396del	ENSP00000450201.1:n.*395_*396del
ENST00000553160.1:n.406-225_406-224del
ENST00000553187.5:n.602_603del
NM_001199771.1:c.569+23_569+24del	NP_001186700.1:n.569+23_569+24del
NM_002905.3:c.569+23_569+24del	NP_002896.2:n.569+23_569+24del
NR_037658.1:n.628+23_628+24del
NM_001199771.2:c.569+23_569+24del	NP_001186700.1:n.569+23_569+24del
NM_002905.5:c.569+23_569+24del MANE Select	NP_002896.2:n.569+23_569+24del
NM_001199771.3:c.569+23_569+24del	NP_001186700.1:n.569+23_569+24del