Canonical Allele Identifier: CA2582342550
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583384
ClinVar RCV Id: RCV003337055

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801750_68801754del , CM000678.2:g.68801750_68801754del GRCh38
NC_000016.9:g.68835653_68835657del , CM000678.1:g.68835653_68835657del GRCh37
NC_000016.8:g.67393154_67393158del NCBI36
NG_008021.1:g.69459_69463del , LRG_301:g.69459_69463del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.244_248del MANE Select ENSP00000261769.4:p.Val82TyrfsTer10
ENST00000261769.9:c.244_248del ENSP00000261769.4:p.Val82TyrfsTer10
ENST00000422392.6:c.244_248del ENSP00000414946.2:p.Val82TyrfsTer10
ENST00000561751.1:c.11_15del
ENST00000562836.5:n.315_319del
ENST00000564676.5:n.526_530del
ENST00000564745.1:n.239_243del
ENST00000566510.5:c.244_248del ENSP00000458139.1:p.Val82TyrfsTer10
ENST00000566612.5:c.244_248del ENSP00000454782.1:p.Val82TyrfsTer10
ENST00000611625.4:c.244_248del ENSP00000481063.1:p.Val82TyrfsTer10
ENST00000612417.4:c.244_248del ENSP00000478360.1:p.Val82TyrfsTer10
ENST00000621016.4:c.244_248del ENSP00000480664.1:p.Val82TyrfsTer10
NM_004360.3:c.244_248del , LRG_301t1:c.244_248del NP_004351.1:p.Val82TyrfsTer10
XM_011523488.1:c.-492_-488del XP_011521790.1:n.-492_-488del
XM_011523489.1:c.-492_-488del XP_011521791.1:n.-492_-488del
NM_001317184.1:c.244_248del NP_001304113.1:p.Val82TyrfsTer10
NM_001317185.1:c.-1372_-1368del NP_001304114.1:n.-1372_-1368del
NM_001317186.1:c.-1576_-1572del NP_001304115.1:n.-1576_-1572del
NM_004360.4:c.244_248del NP_004351.1:p.Val82TyrfsTer10
NM_004360.5:c.244_248del MANE Select NP_004351.1:p.Val82TyrfsTer10
NM_001317184.2:c.244_248del NP_001304113.1:p.Val82TyrfsTer10
NM_001317185.2:c.-1372_-1368del NP_001304114.1:n.-1372_-1368del
NM_001317186.2:c.-1576_-1572del NP_001304115.1:n.-1576_-1572del