Canonical Allele Identifier: CA2499223640
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1264325
ClinVar RCV Id: RCV001667852
dbSNP Id: rs2152129697

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68808487del , CM000678.2:g.68808487del GRCh38
NC_000016.9:g.68842390del , CM000678.1:g.68842390del GRCh37
NC_000016.8:g.67399891del NCBI36
NG_008021.1:g.76196del , LRG_301:g.76196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.451del MANE Select ENSP00000261769.4:p.Arg151AspfsTer?
ENST00000261769.9:c.451del ENSP00000261769.4:p.Arg151AspfsTer?
ENST00000422392.6:c.451del ENSP00000414946.2:p.Arg151AspfsTer?
ENST00000561751.1:c.218del
ENST00000562836.5:n.522del
ENST00000564676.5:n.733del
ENST00000564745.1:n.446del
ENST00000566510.5:c.451del ENSP00000458139.1:p.Arg151AspfsTer?
ENST00000566612.5:c.451del ENSP00000454782.1:p.Arg151AspfsTer?
ENST00000611625.4:c.451del ENSP00000481063.1:p.Arg151AspfsTer?
ENST00000612417.4:c.451del ENSP00000478360.1:p.Arg151AspfsTer?
ENST00000621016.4:c.451del ENSP00000480664.1:p.Arg151AspfsTer?
NM_004360.3:c.451del , LRG_301t1:c.451del NP_004351.1:p.Arg151AspfsTer?
XM_011523488.1:c.-285del XP_011521790.1:n.-285del
XM_011523489.1:c.-285del XP_011521791.1:n.-285del
NM_001317184.1:c.451del NP_001304113.1:p.Arg151AspfsTer?
NM_001317185.1:c.-1165del NP_001304114.1:n.-1165del
NM_001317186.1:c.-1369del NP_001304115.1:n.-1369del
NM_004360.4:c.451del NP_004351.1:p.Arg151AspfsTer?
NM_004360.5:c.451del MANE Select NP_004351.1:p.Arg151AspfsTer?
NM_001317184.2:c.451del NP_001304113.1:p.Arg151AspfsTer?
NM_001317185.2:c.-1165del NP_001304114.1:n.-1165del
NM_001317186.2:c.-1369del NP_001304115.1:n.-1369del