Canonical Allele Identifier: CA913188762
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 628954
dbSNP Id: rs1567508847

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815574del , CM000678.2:g.68815574del GRCh38
NC_000016.9:g.68849477del , CM000678.1:g.68849477del GRCh37
NC_000016.8:g.67406978del NCBI36
NG_008021.1:g.83283del , LRG_301:g.83283del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1380del MANE Select ENSP00000261769.4:p.Pro461LeufsTer20
ENST00000261769.9:c.1380del ENSP00000261769.4:p.Pro461LeufsTer20
ENST00000422392.6:c.1197del ENSP00000414946.2:p.Pro400LeufsTer20
ENST00000562836.5:n.1451del
ENST00000566510.5:c.*46del ENSP00000458139.1:n.*46del
ENST00000566612.5:c.1380del ENSP00000454782.1:p.Pro461LeufsTer20
ENST00000611625.4:c.1443del ENSP00000481063.1:p.Pro482LeufsTer20
ENST00000612417.4:c.1380del ENSP00000478360.1:p.Pro461LeufsTer20
ENST00000621016.4:c.1380del ENSP00000480664.1:p.Pro461LeufsTer20
NM_004360.3:c.1380del , LRG_301t1:c.1380del NP_004351.1:p.Pro461LeufsTer20
XM_011523488.1:c.645del XP_011521790.1:p.Pro216LeufsTer20
XM_011523489.1:c.645del XP_011521791.1:p.Pro216LeufsTer20
NM_001317184.1:c.1197del NP_001304113.1:p.Pro400LeufsTer20
NM_001317185.1:c.-169del NP_001304114.1:n.-169del
NM_001317186.1:c.-440del NP_001304115.1:n.-440del
NM_004360.4:c.1380del NP_004351.1:p.Pro461LeufsTer20
NM_004360.5:c.1380del MANE Select NP_004351.1:p.Pro461LeufsTer20
NM_001317184.2:c.1197del NP_001304113.1:p.Pro400LeufsTer20
NM_001317185.2:c.-169del NP_001304114.1:n.-169del
NM_001317186.2:c.-440del NP_001304115.1:n.-440del