Canonical Allele Identifier: CA2582342552
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583271
ClinVar RCV Id: RCV003336942

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801773dup , CM000678.2:g.68801773dup GRCh38
NC_000016.9:g.68835676dup , CM000678.1:g.68835676dup GRCh37
NC_000016.8:g.67393177dup NCBI36
NG_008021.1:g.69482dup , LRG_301:g.69482dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.267dup MANE Select ENSP00000261769.4:p.Arg90ThrfsTer4
ENST00000261769.9:c.267dup ENSP00000261769.4:p.Arg90ThrfsTer4
ENST00000422392.6:c.267dup ENSP00000414946.2:p.Arg90ThrfsTer4
ENST00000561751.1:c.34dup
ENST00000562836.5:n.338dup
ENST00000564676.5:n.549dup
ENST00000564745.1:n.262dup
ENST00000566510.5:c.267dup ENSP00000458139.1:p.Arg90ThrfsTer4
ENST00000566612.5:c.267dup ENSP00000454782.1:p.Arg90ThrfsTer4
ENST00000611625.4:c.267dup ENSP00000481063.1:p.Arg90ThrfsTer4
ENST00000612417.4:c.267dup ENSP00000478360.1:p.Arg90ThrfsTer4
ENST00000621016.4:c.267dup ENSP00000480664.1:p.Arg90ThrfsTer4
NM_004360.3:c.267dup , LRG_301t1:c.267dup NP_004351.1:p.Arg90ThrfsTer4
XM_011523488.1:c.-469dup XP_011521790.1:n.-469dup
XM_011523489.1:c.-469dup XP_011521791.1:n.-469dup
NM_001317184.1:c.267dup NP_001304113.1:p.Arg90ThrfsTer4
NM_001317185.1:c.-1349dup NP_001304114.1:n.-1349dup
NM_001317186.1:c.-1553dup NP_001304115.1:n.-1553dup
NM_004360.4:c.267dup NP_004351.1:p.Arg90ThrfsTer4
NM_004360.5:c.267dup MANE Select NP_004351.1:p.Arg90ThrfsTer4
NM_001317184.2:c.267dup NP_001304113.1:p.Arg90ThrfsTer4
NM_001317185.2:c.-1349dup NP_001304114.1:n.-1349dup
NM_001317186.2:c.-1553dup NP_001304115.1:n.-1553dup