Canonical Allele Identifier: CA2580091954
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2021694
ClinVar RCV Id: RCV002866390

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810207dup , CM000678.2:g.68810207dup GRCh38
NC_000016.9:g.68844110dup , CM000678.1:g.68844110dup GRCh37
NC_000016.8:g.67401611dup NCBI36
NG_008021.1:g.77916dup , LRG_301:g.77916dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.698dup MANE Select ENSP00000261769.4:p.His233GlnfsTer11
ENST00000261769.9:c.698dup ENSP00000261769.4:p.His233GlnfsTer11
ENST00000422392.6:c.698dup ENSP00000414946.2:p.His233GlnfsTer11
ENST00000561751.1:c.454+1359dup
ENST00000562836.5:n.769dup
ENST00000566510.5:c.542dup ENSP00000458139.1:p.His181GlnfsTer11
ENST00000566612.5:c.698dup ENSP00000454782.1:p.His233GlnfsTer11
ENST00000611625.4:c.698dup ENSP00000481063.1:p.His233GlnfsTer11
ENST00000612417.4:c.698dup ENSP00000478360.1:p.His233GlnfsTer11
ENST00000621016.4:c.698dup ENSP00000480664.1:p.His233GlnfsTer11
NM_004360.3:c.698dup , LRG_301t1:c.698dup NP_004351.1:p.His233GlnfsTer11
XM_011523488.1:c.-38dup XP_011521790.1:n.-38dup
XM_011523489.1:c.-38dup XP_011521791.1:n.-38dup
NM_001317184.1:c.698dup NP_001304113.1:p.His233GlnfsTer11
NM_001317185.1:c.-918dup NP_001304114.1:n.-918dup
NM_001317186.1:c.-1122dup NP_001304115.1:n.-1122dup
NM_004360.4:c.698dup NP_004351.1:p.His233GlnfsTer11
NM_004360.5:c.698dup MANE Select NP_004351.1:p.His233GlnfsTer11
NM_001317184.2:c.698dup NP_001304113.1:p.His233GlnfsTer11
NM_001317185.2:c.-918dup NP_001304114.1:n.-918dup
NM_001317186.2:c.-1122dup NP_001304115.1:n.-1122dup