Canonical Allele Identifier: CA1139532287
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1698820
ClinVar RCV Id: RCV002272677
dbSNP Id: rs2152131075
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810263dup , CM000678.2:g.68810263dup GRCh38
NC_000016.9:g.68844166dup , CM000678.1:g.68844166dup GRCh37
NC_000016.8:g.67401667dup NCBI36
NG_008021.1:g.77972dup , LRG_301:g.77972dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.754dup MANE Select ENSP00000261769.4:p.Val252GlyfsTer6
ENST00000261769.9:c.754dup ENSP00000261769.4:p.Val252GlyfsTer6
ENST00000422392.6:c.754dup ENSP00000414946.2:p.Val252GlyfsTer6
ENST00000561751.1:c.454+1415dup
ENST00000562836.5:n.825dup
ENST00000566510.5:c.598dup ENSP00000458139.1:p.Val200GlyfsTer6
ENST00000566612.5:c.754dup ENSP00000454782.1:p.Val252GlyfsTer6
ENST00000611625.4:c.754dup ENSP00000481063.1:p.Val252GlyfsTer6
ENST00000612417.4:c.754dup ENSP00000478360.1:p.Val252GlyfsTer6
ENST00000621016.4:c.754dup ENSP00000480664.1:p.Val252GlyfsTer6
NM_004360.3:c.754dup , LRG_301t1:c.754dup NP_004351.1:p.Val252GlyfsTer6
XM_011523488.1:c.19dup XP_011521790.1:p.Val7GlyfsTer6
XM_011523489.1:c.19dup XP_011521791.1:p.Val7GlyfsTer6
NM_001317184.1:c.754dup NP_001304113.1:p.Val252GlyfsTer6
NM_001317185.1:c.-862dup NP_001304114.1:n.-862dup
NM_001317186.1:c.-1066dup NP_001304115.1:n.-1066dup
NM_004360.4:c.754dup NP_004351.1:p.Val252GlyfsTer6
NM_004360.5:c.754dup MANE Select NP_004351.1:p.Val252GlyfsTer6
NM_001317184.2:c.754dup NP_001304113.1:p.Val252GlyfsTer6
NM_001317185.2:c.-862dup NP_001304114.1:n.-862dup
NM_001317186.2:c.-1066dup NP_001304115.1:n.-1066dup
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