Canonical Allele Identifier: CA197715
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 187464
ClinVar RCV Id: RCV000167195 RCV000204049 RCV000484305 RCV003462236 RCV003328262
dbSNP Id: rs786203752
gnomAD v4: 16-68829784-AT-A
MyVariant Identifiers: chr16:g.68863691del (hg19) chr16:g.68829788del (hg38)
ERepo: CA197715/MONDO:0007648/007 CA197715/MONDO:0100488/007
PubMed: PMID:17545690 PMID:24366306 PMID:26182300
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829788del , CM000678.2:g.68829788del GRCh38
NC_000016.9:g.68863691del , CM000678.1:g.68863691del GRCh37
NC_000016.8:g.67421192del NCBI36
NG_008021.1:g.97497del , LRG_301:g.97497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2430del MANE Select ENSP00000261769.4:p.Phe810LeufsTer6
ENST00000261769.9:c.2430del ENSP00000261769.4:p.Phe810LeufsTer6
ENST00000422392.6:c.2247del ENSP00000414946.2:p.Phe749LeufsTer6
ENST00000562118.1:n.648del
ENST00000562836.5:n.2501del
ENST00000566510.5:c.*1096del ENSP00000458139.1:n.*1096del
ENST00000566612.5:c.*670del ENSP00000454782.1:n.*670del
ENST00000611625.4:c.2493del ENSP00000481063.1:p.Phe831LeufsTer6
ENST00000612417.4:c.1853+3234del ENSP00000478360.1:n.1853+3234del
ENST00000621016.4:c.1866-4415del ENSP00000480664.1:n.1866-4415del
NM_004360.3:c.2430del , LRG_301t1:c.2430del NP_004351.1:p.Phe810LeufsTer6
XM_011523488.1:c.1695del XP_011521790.1:p.Phe565LeufsTer6
XM_011523489.1:c.1695del XP_011521791.1:p.Phe565LeufsTer6
NM_001317184.1:c.2247del NP_001304113.1:p.Phe749LeufsTer6
NM_001317185.1:c.882del NP_001304114.1:p.Phe294LeufsTer6
NM_001317186.1:c.465del NP_001304115.1:p.Phe155LeufsTer6
NM_004360.4:c.2430del NP_004351.1:p.Phe810LeufsTer6
NM_004360.5:c.2430del MANE Select NP_004351.1:p.Phe810LeufsTer6
NM_001317184.2:c.2247del NP_001304113.1:p.Phe749LeufsTer6
NM_001317185.2:c.882del NP_001304114.1:p.Phe294LeufsTer6
NM_001317186.2:c.465del NP_001304115.1:p.Phe155LeufsTer6
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