Canonical Allele Identifier: CA353528
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224529
ClinVar RCV Id: RCV000210159 RCV003328277
dbSNP Id: rs869312765
MyVariant Identifiers: chr16:g.68849602del (hg19) chr16:g.68815699del (hg38)
ERepo: CA353528/MONDO:0007648/007 CA353528/MONDO:0100488/007
PubMed: PMID:26845104
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815699del , CM000678.2:g.68815699del GRCh38
NC_000016.9:g.68849602del , CM000678.1:g.68849602del GRCh37
NC_000016.8:g.67407103del NCBI36
NG_008021.1:g.83408del , LRG_301:g.83408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1505del MANE Select ENSP00000261769.4:p.Gly502AlafsTer20
ENST00000261769.9:c.1505del ENSP00000261769.4:p.Gly502AlafsTer20
ENST00000422392.6:c.1322del ENSP00000414946.2:p.Gly441AlafsTer20
ENST00000562836.5:n.1576del
ENST00000566510.5:c.*171del ENSP00000458139.1:n.*171del
ENST00000566612.5:c.1505del ENSP00000454782.1:p.Gly502AlafsTer20
ENST00000611625.4:c.1568del ENSP00000481063.1:p.Gly523AlafsTer20
ENST00000612417.4:c.1505del ENSP00000478360.1:p.Gly502AlafsTer20
ENST00000621016.4:c.1505del ENSP00000480664.1:p.Gly502AlafsTer20
NM_004360.3:c.1505del , LRG_301t1:c.1505del NP_004351.1:p.Gly502AlafsTer20
XM_011523488.1:c.770del XP_011521790.1:p.Gly257AlafsTer20
XM_011523489.1:c.770del XP_011521791.1:p.Gly257AlafsTer20
NM_001317184.1:c.1322del NP_001304113.1:p.Gly441AlafsTer20
NM_001317185.1:c.-44del NP_001304114.1:n.-44del
NM_001317186.1:c.-315del NP_001304115.1:n.-315del
NM_004360.4:c.1505del NP_004351.1:p.Gly502AlafsTer20
NM_004360.5:c.1505del MANE Select NP_004351.1:p.Gly502AlafsTer20
NM_001317184.2:c.1322del NP_001304113.1:p.Gly441AlafsTer20
NM_001317185.2:c.-44del NP_001304114.1:n.-44del
NM_001317186.2:c.-315del NP_001304115.1:n.-315del
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