Canonical Allele Identifier: CA2582342528
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583224
ClinVar RCV Id: RCV003336895

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829659del , CM000678.2:g.68829659del GRCh38
NC_000016.9:g.68863562del , CM000678.1:g.68863562del GRCh37
NC_000016.8:g.67421063del NCBI36
NG_008021.1:g.97368del , LRG_301:g.97368del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.2301del MANE Select ENSP00000261769.4:p.Phe767LeufsTer3
ENST00000261769.9:c.2301del ENSP00000261769.4:p.Phe767LeufsTer3
ENST00000422392.6:c.2118del ENSP00000414946.2:p.Phe706LeufsTer3
ENST00000562118.1:n.519del
ENST00000562836.5:n.2372del
ENST00000566510.5:c.*967del ENSP00000458139.1:n.*967del
ENST00000566612.5:c.*541del ENSP00000454782.1:n.*541del
ENST00000611625.4:c.2364del ENSP00000481063.1:p.Phe788LeufsTer3
ENST00000612417.4:c.1853+3105del ENSP00000478360.1:n.1853+3105del
ENST00000621016.4:c.1866-4544del ENSP00000480664.1:n.1866-4544del
NM_004360.3:c.2301del , LRG_301t1:c.2301del NP_004351.1:p.Phe767LeufsTer3
XM_011523488.1:c.1566del XP_011521790.1:p.Phe522LeufsTer3
XM_011523489.1:c.1566del XP_011521791.1:p.Phe522LeufsTer3
NM_001317184.1:c.2118del NP_001304113.1:p.Phe706LeufsTer3
NM_001317185.1:c.753del NP_001304114.1:p.Phe251LeufsTer3
NM_001317186.1:c.336del NP_001304115.1:p.Phe112LeufsTer3
NM_004360.4:c.2301del NP_004351.1:p.Phe767LeufsTer3
NM_004360.5:c.2301del MANE Select NP_004351.1:p.Phe767LeufsTer3
NM_001317184.2:c.2118del NP_001304113.1:p.Phe706LeufsTer3
NM_001317185.2:c.753del NP_001304114.1:p.Phe251LeufsTer3
NM_001317186.2:c.336del NP_001304115.1:p.Phe112LeufsTer3