Canonical Allele Identifier: CA2580091844
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2017754
ClinVar RCV Id: RCV002857003

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822022del , CM000678.2:g.68822022del GRCh38
NC_000016.9:g.68855925del , CM000678.1:g.68855925del GRCh37
NC_000016.8:g.67413426del NCBI36
NG_008021.1:g.89731del , LRG_301:g.89731del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1733del MANE Select ENSP00000261769.4:p.Thr578LysfsTer6
ENST00000261769.9:c.1733del ENSP00000261769.4:p.Thr578LysfsTer6
ENST00000422392.6:c.1550del ENSP00000414946.2:p.Thr517LysfsTer6
ENST00000562836.5:n.1804del
ENST00000566510.5:c.*399del ENSP00000458139.1:n.*399del
ENST00000566612.5:c.1587del ENSP00000454782.1:p.Asn529LysfsTer?
ENST00000611625.4:c.1796del ENSP00000481063.1:p.Thr599LysfsTer6
ENST00000612417.4:c.1733del ENSP00000478360.1:p.Thr578LysfsTer6
ENST00000621016.4:c.1733del ENSP00000480664.1:p.Thr578LysfsTer6
NM_004360.3:c.1733del , LRG_301t1:c.1733del NP_004351.1:p.Thr578LysfsTer6
XM_011523488.1:c.998del XP_011521790.1:p.Thr333LysfsTer6
XM_011523489.1:c.998del XP_011521791.1:p.Thr333LysfsTer6
NM_001317184.1:c.1550del NP_001304113.1:p.Thr517LysfsTer6
NM_001317185.1:c.185del NP_001304114.1:p.Thr62LysfsTer6
NM_001317186.1:c.-233del NP_001304115.1:n.-233del
NM_004360.4:c.1733del NP_004351.1:p.Thr578LysfsTer6
NM_004360.5:c.1733del MANE Select NP_004351.1:p.Thr578LysfsTer6
NM_001317184.2:c.1550del NP_001304113.1:p.Thr517LysfsTer6
NM_001317185.2:c.185del NP_001304114.1:p.Thr62LysfsTer6
NM_001317186.2:c.-233del NP_001304115.1:n.-233del