Canonical Allele Identifier: CA2697555910
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2754811
ClinVar RCV Id: RCV003511821

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815678del , CM000678.2:g.68815678del GRCh38
NC_000016.9:g.68849581del , CM000678.1:g.68849581del GRCh37
NC_000016.8:g.67407082del NCBI36
NG_008021.1:g.83387del , LRG_301:g.83387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1484del MANE Select ENSP00000261769.4:p.Val495GlyfsTer27
ENST00000261769.9:c.1484del ENSP00000261769.4:p.Val495GlyfsTer27
ENST00000422392.6:c.1301del ENSP00000414946.2:p.Val434GlyfsTer27
ENST00000562836.5:n.1555del
ENST00000566510.5:c.*150del ENSP00000458139.1:n.*150del
ENST00000566612.5:c.1484del ENSP00000454782.1:p.Val495GlyfsTer27
ENST00000611625.4:c.1547del ENSP00000481063.1:p.Val516GlyfsTer27
ENST00000612417.4:c.1484del ENSP00000478360.1:p.Val495GlyfsTer27
ENST00000621016.4:c.1484del ENSP00000480664.1:p.Val495GlyfsTer27
NM_004360.3:c.1484del , LRG_301t1:c.1484del NP_004351.1:p.Val495GlyfsTer27
XM_011523488.1:c.749del XP_011521790.1:p.Val250GlyfsTer27
XM_011523489.1:c.749del XP_011521791.1:p.Val250GlyfsTer27
NM_001317184.1:c.1301del NP_001304113.1:p.Val434GlyfsTer27
NM_001317185.1:c.-65del NP_001304114.1:n.-65del
NM_001317186.1:c.-336del NP_001304115.1:n.-336del
NM_004360.4:c.1484del NP_004351.1:p.Val495GlyfsTer27
NM_004360.5:c.1484del MANE Select NP_004351.1:p.Val495GlyfsTer27
NM_001317184.2:c.1301del NP_001304113.1:p.Val434GlyfsTer27
NM_001317185.2:c.-65del NP_001304114.1:n.-65del
NM_001317186.2:c.-336del NP_001304115.1:n.-336del