Canonical Allele Identifier: CA2697555896
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2681860
ClinVar RCV Id: RCV003477152

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810310del , CM000678.2:g.68810310del GRCh38
NC_000016.9:g.68844213del , CM000678.1:g.68844213del GRCh37
NC_000016.8:g.67401714del NCBI36
NG_008021.1:g.78019del , LRG_301:g.78019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.801del MANE Select ENSP00000261769.4:p.Phe267LeufsTer15
ENST00000261769.9:c.801del ENSP00000261769.4:p.Phe267LeufsTer15
ENST00000422392.6:c.801del ENSP00000414946.2:p.Phe267LeufsTer15
ENST00000561751.1:c.455-1374del
ENST00000562836.5:n.872del
ENST00000566510.5:c.645del ENSP00000458139.1:p.Phe215LeufsTer15
ENST00000566612.5:c.801del ENSP00000454782.1:p.Phe267LeufsTer15
ENST00000611625.4:c.801del ENSP00000481063.1:p.Phe267LeufsTer15
ENST00000612417.4:c.801del ENSP00000478360.1:p.Phe267LeufsTer15
ENST00000621016.4:c.801del ENSP00000480664.1:p.Phe267LeufsTer15
NM_004360.3:c.801del , LRG_301t1:c.801del NP_004351.1:p.Phe267LeufsTer15
XM_011523488.1:c.66del XP_011521790.1:p.Phe22LeufsTer15
XM_011523489.1:c.66del XP_011521791.1:p.Phe22LeufsTer15
NM_001317184.1:c.801del NP_001304113.1:p.Phe267LeufsTer15
NM_001317185.1:c.-815del NP_001304114.1:n.-815del
NM_001317186.1:c.-1019del NP_001304115.1:n.-1019del
NM_004360.4:c.801del NP_004351.1:p.Phe267LeufsTer15
NM_004360.5:c.801del MANE Select NP_004351.1:p.Phe267LeufsTer15
NM_001317184.2:c.801del NP_001304113.1:p.Phe267LeufsTer15
NM_001317185.2:c.-815del NP_001304114.1:n.-815del
NM_001317186.2:c.-1019del NP_001304115.1:n.-1019del