Canonical Allele Identifier: CA2038069329

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721519_55721522delinsTATG , CM000674.2:g.55721519_55721522delinsTATG	GRCh38
NC_000012.11:g.56115303_56115306delinsTATG , CM000674.1:g.56115303_56115306delinsTATG	GRCh37
NC_000012.10:g.54401570_54401573delinsTATG	NCBI36
NG_008606.1:g.6153_6156delinsTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+25_310+28delinsTATG MANE Select	ENSP00000257895.6:n.310+25_310+28delinsTATG
ENST00000257895.9:c.310+25_310+28delinsTATG	ENSP00000257895.5:n.310+25_310+28delinsTATG
ENST00000257899.3:c.326-170_326-167delinsTATG
ENST00000547072.5:c.19+25_19+28delinsTATG	ENSP00000449927.1:n.19+25_19+28delinsTATG
ENST00000547301.1:n.249_252delinsTATG
ENST00000548082.1:c.310+25_310+28delinsTATG	ENSP00000447128.1:n.310+25_310+28delinsTATG
ENST00000548123.1:c.300+25_300+28delinsTATG
ENST00000548486.1:n.320+25_320+28delinsTATG
ENST00000549424.1:c.118-170_118-167delinsTATG	ENSP00000447621.1:n.118-170_118-167delinsTATG
ENST00000550412.5:c.352-170_352-167delinsTATG	ENSP00000447650.1:n.352-170_352-167delinsTATG
ENST00000550608.1:n.449+25_449+28delinsTATG
ENST00000551946.5:c.*114-170_*114-167delinsTATG	ENSP00000450201.1:n.*114-170_*114-167delinsTATG
ENST00000552930.5:c.19+25_19+28delinsTATG	ENSP00000448014.1:n.19+25_19+28delinsTATG
ENST00000553160.1:n.406-676_406-673delinsTATG
ENST00000553187.5:n.320+25_320+28delinsTATG
NM_001199771.1:c.310+25_310+28delinsTATG	NP_001186700.1:n.310+25_310+28delinsTATG
NM_002905.3:c.310+25_310+28delinsTATG	NP_002896.2:n.310+25_310+28delinsTATG
NR_037658.1:n.370-170_370-167delinsTATG
NM_001199771.2:c.310+25_310+28delinsTATG	NP_001186700.1:n.310+25_310+28delinsTATG
NM_002905.5:c.310+25_310+28delinsTATG MANE Select	NP_002896.2:n.310+25_310+28delinsTATG
NM_001199771.3:c.310+25_310+28delinsTATG	NP_001186700.1:n.310+25_310+28delinsTATG