Canonical Allele Identifier: CA947931169

Gene: RDH5

Linked Data

• gnomAD v3: 12-55721971-T-TGCCC
• gnomAD v4: 12-55721971-T-TGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721971_55721972insGCCC , CM000674.2:g.55721971_55721972insGCCC	GRCh38
NC_000012.11:g.56115755_56115756insGCCC , CM000674.1:g.56115755_56115756insGCCC	GRCh37
NC_000012.10:g.54402022_54402023insGCCC	NCBI36
NG_008606.1:g.6605_6606insGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+24_569+25insGCCC MANE Select	ENSP00000257895.6:n.569+24_569+25insGCCC
ENST00000257895.9:c.569+24_569+25insGCCC	ENSP00000257895.5:n.569+24_569+25insGCCC
ENST00000257899.3:c.591+17_591+18insGCCC
ENST00000547072.5:c.278+24_278+25insGCCC	ENSP00000449927.1:n.278+24_278+25insGCCC
ENST00000548082.1:c.569+24_569+25insGCCC	ENSP00000447128.1:n.569+24_569+25insGCCC
ENST00000548123.1:c.300+477_300+478insGCCC
ENST00000548486.1:n.603_604insGCCC
ENST00000550412.5:c.*265_*266insGCCC	ENSP00000447650.1:n.*265_*266insGCCC
ENST00000550608.1:n.732_733insGCCC
ENST00000551946.5:c.*396_*397insGCCC	ENSP00000450201.1:n.*396_*397insGCCC
ENST00000553160.1:n.406-224_406-223insGCCC
ENST00000553187.5:n.603_604insGCCC
NM_001199771.1:c.569+24_569+25insGCCC	NP_001186700.1:n.569+24_569+25insGCCC
NM_002905.3:c.569+24_569+25insGCCC	NP_002896.2:n.569+24_569+25insGCCC
NR_037658.1:n.628+24_628+25insGCCC
NM_001199771.2:c.569+24_569+25insGCCC	NP_001186700.1:n.569+24_569+25insGCCC
NM_002905.5:c.569+24_569+25insGCCC MANE Select	NP_002896.2:n.569+24_569+25insGCCC
NM_001199771.3:c.569+24_569+25insGCCC	NP_001186700.1:n.569+24_569+25insGCCC