Canonical Allele Identifier: CA2582342525
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583358
ClinVar RCV Id: RCV003337029
dbSNP Id: rs2152136857

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819343del , CM000678.2:g.68819343del GRCh38
NC_000016.9:g.68853246del , CM000678.1:g.68853246del GRCh37
NC_000016.8:g.67410747del NCBI36
NG_008021.1:g.87052del , LRG_301:g.87052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1629del MANE Select ENSP00000261769.4:p.Thr544LeufsTer13
ENST00000261769.9:c.1629del ENSP00000261769.4:p.Thr544LeufsTer13
ENST00000422392.6:c.1446del ENSP00000414946.2:p.Thr483LeufsTer13
ENST00000562836.5:n.1700del
ENST00000566510.5:c.*295del ENSP00000458139.1:n.*295del
ENST00000566612.5:c.1566-2658del ENSP00000454782.1:n.1566-2658del
ENST00000611625.4:c.1692del ENSP00000481063.1:p.Thr565LeufsTer13
ENST00000612417.4:c.1629del ENSP00000478360.1:p.Thr544LeufsTer13
ENST00000621016.4:c.1629del ENSP00000480664.1:p.Thr544LeufsTer13
NM_004360.3:c.1629del , LRG_301t1:c.1629del NP_004351.1:p.Thr544LeufsTer13
XM_011523488.1:c.894del XP_011521790.1:p.Thr299LeufsTer13
XM_011523489.1:c.894del XP_011521791.1:p.Thr299LeufsTer13
NM_001317184.1:c.1446del NP_001304113.1:p.Thr483LeufsTer13
NM_001317185.1:c.81del NP_001304114.1:p.Thr28LeufsTer13
NM_001317186.1:c.-254-2658del NP_001304115.1:n.-254-2658del
NM_004360.4:c.1629del NP_004351.1:p.Thr544LeufsTer13
NM_004360.5:c.1629del MANE Select NP_004351.1:p.Thr544LeufsTer13
NM_001317184.2:c.1446del NP_001304113.1:p.Thr483LeufsTer13
NM_001317185.2:c.81del NP_001304114.1:p.Thr28LeufsTer13
NM_001317186.2:c.-254-2658del NP_001304115.1:n.-254-2658del