Canonical Allele Identifier: CA2582342557
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583792
ClinVar RCV Id: RCV003334714

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801839del , CM000678.2:g.68801839del GRCh38
NC_000016.9:g.68835742del , CM000678.1:g.68835742del GRCh37
NC_000016.8:g.67393243del NCBI36
NG_008021.1:g.69548del , LRG_301:g.69548del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.333del MANE Select ENSP00000261769.4:p.Thr112ProfsTer5
ENST00000261769.9:c.333del ENSP00000261769.4:p.Thr112ProfsTer5
ENST00000422392.6:c.333del ENSP00000414946.2:p.Thr112ProfsTer5
ENST00000561751.1:c.100del
ENST00000562836.5:n.404del
ENST00000564676.5:n.615del
ENST00000564745.1:n.328del
ENST00000566510.5:c.333del ENSP00000458139.1:p.Thr112ProfsTer5
ENST00000566612.5:c.333del ENSP00000454782.1:p.Thr112ProfsTer5
ENST00000611625.4:c.333del ENSP00000481063.1:p.Thr112ProfsTer5
ENST00000612417.4:c.333del ENSP00000478360.1:p.Thr112ProfsTer5
ENST00000621016.4:c.333del ENSP00000480664.1:p.Thr112ProfsTer5
NM_004360.3:c.333del , LRG_301t1:c.333del NP_004351.1:p.Thr112ProfsTer5
XM_011523488.1:c.-403del XP_011521790.1:n.-403del
XM_011523489.1:c.-403del XP_011521791.1:n.-403del
NM_001317184.1:c.333del NP_001304113.1:p.Thr112ProfsTer5
NM_001317185.1:c.-1283del NP_001304114.1:n.-1283del
NM_001317186.1:c.-1487del NP_001304115.1:n.-1487del
NM_004360.4:c.333del NP_004351.1:p.Thr112ProfsTer5
NM_004360.5:c.333del MANE Select NP_004351.1:p.Thr112ProfsTer5
NM_001317184.2:c.333del NP_001304113.1:p.Thr112ProfsTer5
NM_001317185.2:c.-1283del NP_001304114.1:n.-1283del
NM_001317186.2:c.-1487del NP_001304115.1:n.-1487del