Canonical Allele Identifier: CA2580612855
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2502956
ClinVar RCV Id: RCV003229690

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815595del , CM000678.2:g.68815595del GRCh38
NC_000016.9:g.68849498del , CM000678.1:g.68849498del GRCh37
NC_000016.8:g.67406999del NCBI36
NG_008021.1:g.83304del , LRG_301:g.83304del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1401del MANE Select ENSP00000261769.4:p.Thr468ProfsTer13
ENST00000261769.9:c.1401del ENSP00000261769.4:p.Thr468ProfsTer13
ENST00000422392.6:c.1218del ENSP00000414946.2:p.Thr407ProfsTer13
ENST00000562836.5:n.1472del
ENST00000566510.5:c.*67del ENSP00000458139.1:n.*67del
ENST00000566612.5:c.1401del ENSP00000454782.1:p.Thr468ProfsTer13
ENST00000611625.4:c.1464del ENSP00000481063.1:p.Thr489ProfsTer13
ENST00000612417.4:c.1401del ENSP00000478360.1:p.Thr468ProfsTer13
ENST00000621016.4:c.1401del ENSP00000480664.1:p.Thr468ProfsTer13
NM_004360.3:c.1401del , LRG_301t1:c.1401del NP_004351.1:p.Thr468ProfsTer13
XM_011523488.1:c.666del XP_011521790.1:p.Thr223ProfsTer13
XM_011523489.1:c.666del XP_011521791.1:p.Thr223ProfsTer13
NM_001317184.1:c.1218del NP_001304113.1:p.Thr407ProfsTer13
NM_001317185.1:c.-148del NP_001304114.1:n.-148del
NM_001317186.1:c.-419del NP_001304115.1:n.-419del
NM_004360.4:c.1401del NP_004351.1:p.Thr468ProfsTer13
NM_004360.5:c.1401del MANE Select NP_004351.1:p.Thr468ProfsTer13
NM_001317184.2:c.1218del NP_001304113.1:p.Thr407ProfsTer13
NM_001317185.2:c.-148del NP_001304114.1:n.-148del
NM_001317186.2:c.-419del NP_001304115.1:n.-419del