Canonical Allele Identifier: CA2580618191
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2580963
ClinVar RCV Id: RCV003330197 RCV003330198 RCV003459837
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68812188del , CM000678.2:g.68812188del GRCh38
NC_000016.9:g.68846091del , CM000678.1:g.68846091del GRCh37
NC_000016.8:g.67403592del NCBI36
NG_008021.1:g.79897del , LRG_301:g.79897del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1062del MANE Select ENSP00000261769.4:p.Leu355Ter
ENST00000261769.9:c.1062del ENSP00000261769.4:p.Leu355Ter
ENST00000422392.6:c.1062del ENSP00000414946.2:p.Leu355Ter
ENST00000561751.1:c.684del
ENST00000562836.5:n.1133del
ENST00000565810.1:n.106del
ENST00000566510.5:c.906del ENSP00000458139.1:p.Leu303Ter
ENST00000566612.5:c.1062del ENSP00000454782.1:p.Leu355Ter
ENST00000611625.4:c.1062del ENSP00000481063.1:p.Leu355Ter
ENST00000612417.4:c.1062del ENSP00000478360.1:p.Leu355Ter
ENST00000621016.4:c.1062del ENSP00000480664.1:p.Leu355Ter
NM_004360.3:c.1062del , LRG_301t1:c.1062del NP_004351.1:p.Leu355Ter
XM_011523488.1:c.327del XP_011521790.1:p.Leu110Ter
XM_011523489.1:c.327del XP_011521791.1:p.Leu110Ter
NM_001317184.1:c.1062del NP_001304113.1:p.Leu355Ter
NM_001317185.1:c.-554del NP_001304114.1:n.-554del
NM_001317186.1:c.-758del NP_001304115.1:n.-758del
NM_004360.4:c.1062del NP_004351.1:p.Leu355Ter
NM_004360.5:c.1062del MANE Select NP_004351.1:p.Leu355Ter
NM_001317184.2:c.1062del NP_001304113.1:p.Leu355Ter
NM_001317185.2:c.-554del NP_001304114.1:n.-554del
NM_001317186.2:c.-758del NP_001304115.1:n.-758del
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