Canonical Allele Identifier: CA2796088815

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721582_55721583insTG , CM000674.2:g.55721582_55721583insTG	GRCh38
NC_000012.11:g.56115366_56115367insTG , CM000674.1:g.56115366_56115367insTG	GRCh37
NC_000012.10:g.54401633_54401634insTG	NCBI36
NG_008606.1:g.6216_6217insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+88_310+89insTG MANE Select	ENSP00000257895.6:n.310+88_310+89insTG
ENST00000257895.9:c.310+88_310+89insTG	ENSP00000257895.5:n.310+88_310+89insTG
ENST00000257899.3:c.326-107_326-106insTG
ENST00000547072.5:c.19+88_19+89insTG	ENSP00000449927.1:n.19+88_19+89insTG
ENST00000547301.1:n.312_313insTG
ENST00000548082.1:c.310+88_310+89insTG	ENSP00000447128.1:n.310+88_310+89insTG
ENST00000548123.1:c.300+88_300+89insTG
ENST00000548486.1:n.320+88_320+89insTG
ENST00000549424.1:c.118-107_118-106insTG	ENSP00000447621.1:n.118-107_118-106insTG
ENST00000550412.5:c.352-107_352-106insTG	ENSP00000447650.1:n.352-107_352-106insTG
ENST00000550608.1:n.449+88_449+89insTG
ENST00000551946.5:c.*114-107_*114-106insTG	ENSP00000450201.1:n.*114-107_*114-106insTG
ENST00000552930.5:c.19+88_19+89insTG	ENSP00000448014.1:n.19+88_19+89insTG
ENST00000553160.1:n.406-613_406-612insTG
ENST00000553187.5:n.320+88_320+89insTG
NM_001199771.1:c.310+88_310+89insTG	NP_001186700.1:n.310+88_310+89insTG
NM_002905.3:c.310+88_310+89insTG	NP_002896.2:n.310+88_310+89insTG
NR_037658.1:n.370-107_370-106insTG
NM_001199771.2:c.310+88_310+89insTG	NP_001186700.1:n.310+88_310+89insTG
NM_002905.5:c.310+88_310+89insTG MANE Select	NP_002896.2:n.310+88_310+89insTG
NM_001199771.3:c.310+88_310+89insTG	NP_001186700.1:n.310+88_310+89insTG