Canonical Allele Identifier: CA336431
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224528
ClinVar RCV Id: RCV000196464 RCV000210107 RCV003328276
dbSNP Id: rs1555515731
COSMIC: COSM1659131
MyVariant Identifiers: chr16:g.68846093del (hg19) chr16:g.68846092del (hg19) chr16:g.68812190del (hg38) chr16:g.68812189del (hg38)
PubMed: PMID:16061854 PMID:25637381 PMID:26845104
ERepo: CA336431/MONDO:0007648/007 CA336431/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68812190del , CM000678.2:g.68812190del GRCh38
NC_000016.9:g.68846093del , CM000678.1:g.68846093del GRCh37
NC_000016.8:g.67403594del NCBI36
NG_008021.1:g.79899del , LRG_301:g.79899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1064del MANE Select ENSP00000261769.4:p.Leu355Ter
ENST00000261769.9:c.1064del ENSP00000261769.4:p.Leu355Ter
ENST00000422392.6:c.1064del ENSP00000414946.2:p.Leu355Ter
ENST00000561751.1:c.686del
ENST00000562836.5:n.1135del
ENST00000565810.1:n.108del
ENST00000566510.5:c.908del ENSP00000458139.1:p.Leu303Ter
ENST00000566612.5:c.1064del ENSP00000454782.1:p.Leu355Ter
ENST00000611625.4:c.1064del ENSP00000481063.1:p.Leu355Ter
ENST00000612417.4:c.1064del ENSP00000478360.1:p.Leu355Ter
ENST00000621016.4:c.1064del ENSP00000480664.1:p.Leu355Ter
NM_004360.3:c.1064del , LRG_301t1:c.1064del NP_004351.1:p.Leu355Ter
XM_011523488.1:c.329del XP_011521790.1:p.Leu110Ter
XM_011523489.1:c.329del XP_011521791.1:p.Leu110Ter
NM_001317184.1:c.1064del NP_001304113.1:p.Leu355Ter
NM_001317185.1:c.-552del NP_001304114.1:n.-552del
NM_001317186.1:c.-756del NP_001304115.1:n.-756del
NM_004360.4:c.1064del NP_004351.1:p.Leu355Ter
NM_004360.5:c.1064del MANE Select NP_004351.1:p.Leu355Ter
NM_001317184.2:c.1064del NP_001304113.1:p.Leu355Ter
NM_001317185.2:c.-552del NP_001304114.1:n.-552del
NM_001317186.2:c.-756del NP_001304115.1:n.-756del
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