Canonical Allele Identifier: CA2741256670

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721529_55721530insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT , CM000674.2:g.55721529_55721530insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	GRCh38
NC_000012.11:g.56115313_56115314insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT , CM000674.1:g.56115313_56115314insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	GRCh37
NC_000012.10:g.54401580_54401581insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	NCBI36
NG_008606.1:g.6163_6164insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT MANE Select	ENSP00000257895.6:n.310+35_310+36insTCTCCATGCGCAATGAAATTACAGG...
ENST00000257895.9:c.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	ENSP00000257895.5:n.310+35_310+36insTCTCCATGCGCAATGAAATTACAGG...
ENST00000257899.3:c.326-160_326-159insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT
ENST00000547072.5:c.19+35_19+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	ENSP00000449927.1:n.19+35_19+36insTCTCCATGCGCAATGAAATTACAGGGT...
ENST00000547301.1:n.259_260insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT
ENST00000548082.1:c.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	ENSP00000447128.1:n.310+35_310+36insTCTCCATGCGCAATGAAATTACAGG...
ENST00000548123.1:c.300+35_300+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT
ENST00000548486.1:n.320+35_320+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT
ENST00000549424.1:c.118-160_118-159insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	ENSP00000447621.1:n.118-160_118-159insTCTCCATGCGCAATGAAATTACA...
ENST00000550412.5:c.352-160_352-159insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	ENSP00000447650.1:n.352-160_352-159insTCTCCATGCGCAATGAAATTACA...
ENST00000550608.1:n.449+35_449+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT
ENST00000551946.5:c.*114-160_*114-159insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	ENSP00000450201.1:n.*114-160_*114-159insTCTCCATGCGCAATGAAATTA...
ENST00000552930.5:c.19+35_19+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	ENSP00000448014.1:n.19+35_19+36insTCTCCATGCGCAATGAAATTACAGGGT...
ENST00000553160.1:n.406-666_406-665insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT
ENST00000553187.5:n.320+35_320+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT
NM_001199771.1:c.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	NP_001186700.1:n.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTT...
NM_002905.3:c.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	NP_002896.2:n.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGC...
NR_037658.1:n.370-160_370-159insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT
NM_001199771.2:c.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	NP_001186700.1:n.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTT...
NM_002905.5:c.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT MANE Select	NP_002896.2:n.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGC...
NM_001199771.3:c.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTTTGCGTAGTGGGTGGTTGGCAAAGCTTT	NP_001186700.1:n.310+35_310+36insTCTCCATGCGCAATGAAATTACAGGGTT...