Canonical Allele Identifier: CA2739266857
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2819631
ClinVar RCV Id: RCV003625311

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810226del , CM000678.2:g.68810226del GRCh38
NC_000016.9:g.68844129del , CM000678.1:g.68844129del GRCh37
NC_000016.8:g.67401630del NCBI36
NG_008021.1:g.77935del , LRG_301:g.77935del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.717del MANE Select ENSP00000261769.4:p.Asn240MetfsTer10
ENST00000261769.9:c.717del ENSP00000261769.4:p.Asn240MetfsTer10
ENST00000422392.6:c.717del ENSP00000414946.2:p.Asn240MetfsTer10
ENST00000561751.1:c.454+1378del
ENST00000562836.5:n.788del
ENST00000566510.5:c.561del ENSP00000458139.1:p.Asn188MetfsTer10
ENST00000566612.5:c.717del ENSP00000454782.1:p.Asn240MetfsTer10
ENST00000611625.4:c.717del ENSP00000481063.1:p.Asn240MetfsTer10
ENST00000612417.4:c.717del ENSP00000478360.1:p.Asn240MetfsTer10
ENST00000621016.4:c.717del ENSP00000480664.1:p.Asn240MetfsTer10
NM_004360.3:c.717del , LRG_301t1:c.717del NP_004351.1:p.Asn240MetfsTer10
XM_011523488.1:c.-19del XP_011521790.1:n.-19del
XM_011523489.1:c.-19del XP_011521791.1:n.-19del
NM_001317184.1:c.717del NP_001304113.1:p.Asn240MetfsTer10
NM_001317185.1:c.-899del NP_001304114.1:n.-899del
NM_001317186.1:c.-1103del NP_001304115.1:n.-1103del
NM_004360.4:c.717del NP_004351.1:p.Asn240MetfsTer10
NM_004360.5:c.717del MANE Select NP_004351.1:p.Asn240MetfsTer10
NM_001317184.2:c.717del NP_001304113.1:p.Asn240MetfsTer10
NM_001317185.2:c.-899del NP_001304114.1:n.-899del
NM_001317186.2:c.-1103del NP_001304115.1:n.-1103del