Canonical Allele Identifier: CA915949333
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 656340
ClinVar RCV Id: RCV000812733
dbSNP Id: rs1555518221
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833324del , CM000678.2:g.68833324del GRCh38
NC_000016.9:g.68867227del , CM000678.1:g.68867227del GRCh37
NC_000016.8:g.67424728del NCBI36
NG_008021.1:g.101033del , LRG_301:g.101033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2474del MANE Select ENSP00000261769.4:p.Pro825ArgfsTer21
ENST00000261769.9:c.2474del ENSP00000261769.4:p.Pro825ArgfsTer21
ENST00000422392.6:c.2291del ENSP00000414946.2:p.Pro764ArgfsTer21
ENST00000562118.1:n.692del
ENST00000562836.5:n.2545del
ENST00000566510.5:c.*1140del ENSP00000458139.1:n.*1140del
ENST00000566612.5:c.*714del ENSP00000454782.1:n.*714del
ENST00000611625.4:c.2537del ENSP00000481063.1:p.Pro846ArgfsTer21
ENST00000612417.4:c.1854-867del ENSP00000478360.1:n.1854-867del
ENST00000621016.4:c.1866-879del ENSP00000480664.1:n.1866-879del
NM_004360.3:c.2474del , LRG_301t1:c.2474del NP_004351.1:p.Pro825ArgfsTer21
XM_011523488.1:c.1739del XP_011521790.1:p.Pro580ArgfsTer21
XM_011523489.1:c.1739del XP_011521791.1:p.Pro580ArgfsTer21
NM_001317184.1:c.2291del NP_001304113.1:p.Pro764ArgfsTer21
NM_001317185.1:c.926del NP_001304114.1:p.Pro309ArgfsTer21
NM_001317186.1:c.509del NP_001304115.1:p.Pro170ArgfsTer21
NM_004360.4:c.2474del NP_004351.1:p.Pro825ArgfsTer21
NM_004360.5:c.2474del MANE Select NP_004351.1:p.Pro825ArgfsTer21
NM_001317184.2:c.2291del NP_001304113.1:p.Pro764ArgfsTer21
NM_001317185.2:c.926del NP_001304114.1:p.Pro309ArgfsTer21
NM_001317186.2:c.509del NP_001304115.1:p.Pro170ArgfsTer21
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