Canonical Allele Identifier: CA2580612839
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503032
ClinVar RCV Id: RCV003229766

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801842del , CM000678.2:g.68801842del GRCh38
NC_000016.9:g.68835745del , CM000678.1:g.68835745del GRCh37
NC_000016.8:g.67393246del NCBI36
NG_008021.1:g.69551del , LRG_301:g.69551del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.336del MANE Select ENSP00000261769.4:p.Val114SerfsTer3
ENST00000261769.9:c.336del ENSP00000261769.4:p.Val114SerfsTer3
ENST00000422392.6:c.336del ENSP00000414946.2:p.Val114SerfsTer3
ENST00000561751.1:c.103del
ENST00000562836.5:n.407del
ENST00000564676.5:n.618del
ENST00000564745.1:n.331del
ENST00000566510.5:c.336del ENSP00000458139.1:p.Val114SerfsTer3
ENST00000566612.5:c.336del ENSP00000454782.1:p.Val114SerfsTer3
ENST00000611625.4:c.336del ENSP00000481063.1:p.Val114SerfsTer3
ENST00000612417.4:c.336del ENSP00000478360.1:p.Val114SerfsTer3
ENST00000621016.4:c.336del ENSP00000480664.1:p.Val114SerfsTer3
NM_004360.3:c.336del , LRG_301t1:c.336del NP_004351.1:p.Val114SerfsTer3
XM_011523488.1:c.-400del XP_011521790.1:n.-400del
XM_011523489.1:c.-400del XP_011521791.1:n.-400del
NM_001317184.1:c.336del NP_001304113.1:p.Val114SerfsTer3
NM_001317185.1:c.-1280del NP_001304114.1:n.-1280del
NM_001317186.1:c.-1484del NP_001304115.1:n.-1484del
NM_004360.4:c.336del NP_004351.1:p.Val114SerfsTer3
NM_004360.5:c.336del MANE Select NP_004351.1:p.Val114SerfsTer3
NM_001317184.2:c.336del NP_001304113.1:p.Val114SerfsTer3
NM_001317185.2:c.-1280del NP_001304114.1:n.-1280del
NM_001317186.2:c.-1484del NP_001304115.1:n.-1484del