Canonical Allele Identifier: CA396913497
Gene: CDH13 HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.82858467C>G , CM000678.2:g.82858467C>G GRCh38
NC_000016.9:g.82892072C>G , CM000678.1:g.82892072C>G GRCh37
NC_000016.8:g.81449573C>G NCBI36
NG_052819.1:g.236674C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567109.6:c.151C>G MANE Select ENSP00000479395.1:p.Leu51Val
ENST00000268613.14:c.292C>G ENSP00000268613.10:p.Leu98Val
ENST00000428848.7:c.151C>G ENSP00000394557.3:p.Leu51Val
ENST00000431540.7:c.151C>G ENSP00000408632.3:p.Leu51Val
ENST00000539548.6:c.151C>G ENSP00000442225.2:p.Leu51Val
ENST00000562601.5:c.*160C>G ENSP00000455781.1:n.*160C>G
ENST00000565636.5:c.151C>G ENSP00000456491.1:p.Leu51Val
ENST00000566333.1:n.273C>G
ENST00000566620.5:c.115C>G ENSP00000454435.3:p.Leu39Val
ENST00000567109.5:c.151C>G ENSP00000479395.1:p.Leu51Val
ENST00000567445.1:c.151C>G ENSP00000456297.1:p.Leu51Val
ENST00000568770.5:c.*151C>G ENSP00000457149.1:n.*151C>G
ENST00000569144.5:c.151C>G ENSP00000457914.1:p.Leu51Val
ENST00000622885.4:c.112C>G ENSP00000483719.1:p.Leu38Val
NM_001220488.1:c.292C>G NP_001207417.1:p.Leu98Val
NM_001220489.1:c.151C>G NP_001207418.1:p.Leu51Val
NM_001220490.1:c.-403C>G NP_001207419.1:n.-403C>G
NM_001220491.1:c.151C>G NP_001207420.1:p.Leu51Val
NM_001220492.1:c.151C>G NP_001207421.1:p.Leu51Val
NM_001257.4:c.151C>G NP_001248.1:p.Leu51Val
XM_011522805.1:c.292C>G XP_011521107.1:p.Leu98Val
XM_017022848.2:c.292C>G XP_016878337.1:p.Leu98Val
XM_017022849.2:c.292C>G XP_016878338.1:p.Leu98Val
NM_001257.5:c.151C>G MANE Select NP_001248.1:p.Leu51Val
NM_001220488.2:c.292C>G NP_001207417.1:p.Leu98Val
NM_001220489.2:c.151C>G NP_001207418.1:p.Leu51Val
NM_001220490.2:c.-403C>G NP_001207419.1:n.-403C>G
NM_001220491.2:c.151C>G NP_001207420.1:p.Leu51Val
NM_001220492.2:c.151C>G NP_001207421.1:p.Leu51Val