Canonical Allele Identifier: CA2580612837
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503013
ClinVar RCV Id: RCV003229747

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833370del , CM000678.2:g.68833370del GRCh38
NC_000016.9:g.68867273del , CM000678.1:g.68867273del GRCh37
NC_000016.8:g.67424774del NCBI36
NG_008021.1:g.101079del , LRG_301:g.101079del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2520del MANE Select ENSP00000261769.4:p.Glu841LysfsTer5
ENST00000261769.9:c.2520del ENSP00000261769.4:p.Glu841LysfsTer5
ENST00000422392.6:c.2337del ENSP00000414946.2:p.Glu780LysfsTer5
ENST00000562118.1:n.738del
ENST00000562836.5:n.2591del
ENST00000566510.5:c.*1186del ENSP00000458139.1:n.*1186del
ENST00000566612.5:c.*760del ENSP00000454782.1:n.*760del
ENST00000611625.4:c.2583del ENSP00000481063.1:p.Glu862LysfsTer5
ENST00000612417.4:c.1854-821del ENSP00000478360.1:n.1854-821del
ENST00000621016.4:c.1866-833del ENSP00000480664.1:n.1866-833del
NM_004360.3:c.2520del , LRG_301t1:c.2520del NP_004351.1:p.Glu841LysfsTer5
XM_011523488.1:c.1785del XP_011521790.1:p.Glu596LysfsTer5
XM_011523489.1:c.1785del XP_011521791.1:p.Glu596LysfsTer5
NM_001317184.1:c.2337del NP_001304113.1:p.Glu780LysfsTer5
NM_001317185.1:c.972del NP_001304114.1:p.Glu325LysfsTer5
NM_001317186.1:c.555del NP_001304115.1:p.Glu186LysfsTer5
NM_004360.4:c.2520del NP_004351.1:p.Glu841LysfsTer5
NM_004360.5:c.2520del MANE Select NP_004351.1:p.Glu841LysfsTer5
NM_001317184.2:c.2337del NP_001304113.1:p.Glu780LysfsTer5
NM_001317185.2:c.972del NP_001304114.1:p.Glu325LysfsTer5
NM_001317186.2:c.555del NP_001304115.1:p.Glu186LysfsTer5