Canonical Allele Identifier: CA658683961
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 492677
ClinVar RCV Id: RCV000583312 RCV000639209 RCV003328434
dbSNP Id: rs1555517136
gnomAD v4: 16-68823561-CT-C
MyVariant Identifiers: chr16:g.68857465del (hg19) chr16:g.68823562del (hg38)
ERepo: CA658683961/MONDO:0007648/007 CA658683961/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823562del , CM000678.2:g.68823562del GRCh38
NC_000016.9:g.68857465del , CM000678.1:g.68857465del GRCh37
NC_000016.8:g.67414966del NCBI36
NG_008021.1:g.91271del , LRG_301:g.91271del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2100del MANE Select ENSP00000261769.4:p.Val701SerfsTer21
ENST00000261769.9:c.2100del ENSP00000261769.4:p.Val701SerfsTer21
ENST00000422392.6:c.1917del ENSP00000414946.2:p.Val640SerfsTer21
ENST00000562118.1:n.318del
ENST00000562836.5:n.2171del
ENST00000566510.5:c.*766del ENSP00000458139.1:n.*766del
ENST00000566612.5:c.*340del ENSP00000454782.1:n.*340del
ENST00000611625.4:c.2163del ENSP00000481063.1:p.Val722SerfsTer21
ENST00000612417.4:c.1830+1443del ENSP00000478360.1:n.1830+1443del
ENST00000621016.4:c.1865+1408del ENSP00000480664.1:n.1865+1408del
NM_004360.3:c.2100del , LRG_301t1:c.2100del NP_004351.1:p.Val701SerfsTer21
XM_011523488.1:c.1365del XP_011521790.1:p.Val456SerfsTer21
XM_011523489.1:c.1365del XP_011521791.1:p.Val456SerfsTer21
NM_001317184.1:c.1917del NP_001304113.1:p.Val640SerfsTer21
NM_001317185.1:c.552del NP_001304114.1:p.Val185SerfsTer21
NM_001317186.1:c.135del NP_001304115.1:p.Val46SerfsTer21
NM_004360.4:c.2100del NP_004351.1:p.Val701SerfsTer21
NM_004360.5:c.2100del MANE Select NP_004351.1:p.Val701SerfsTer21
NM_001317184.2:c.1917del NP_001304113.1:p.Val640SerfsTer21
NM_001317185.2:c.552del NP_001304114.1:p.Val185SerfsTer21
NM_001317186.2:c.135del NP_001304115.1:p.Val46SerfsTer21
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