Canonical Allele Identifier: CA2580091864
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1771776
ClinVar RCV Id: RCV002389253
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738388_68738403delinsCGA , CM000678.2:g.68738388_68738403delinsCGA GRCh38
NC_000016.9:g.68772291_68772306delinsCGA , CM000678.1:g.68772291_68772306delinsCGA GRCh37
NC_000016.8:g.67329792_67329807delinsCGA NCBI36
NG_008021.1:g.6097_6112delinsCGA , LRG_301:g.6097_6112delinsCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.140_155delinsCGA MANE Select ENSP00000261769.4:p.Glu47AlafsTer5
ENST00000261769.9:c.140_155delinsCGA ENSP00000261769.4:p.Glu47AlafsTer5
ENST00000422392.6:c.140_155delinsCGA ENSP00000414946.2:p.Glu47AlafsTer5
ENST00000566510.5:c.140_155delinsCGA ENSP00000458139.1:p.Glu47AlafsTer5
ENST00000566612.5:c.140_155delinsCGA ENSP00000454782.1:p.Glu47AlafsTer5
ENST00000611625.4:c.140_155delinsCGA ENSP00000481063.1:p.Glu47AlafsTer5
ENST00000612417.4:c.140_155delinsCGA ENSP00000478360.1:p.Glu47AlafsTer5
ENST00000621016.4:c.140_155delinsCGA ENSP00000480664.1:p.Glu47AlafsTer5
NM_004360.3:c.140_155delinsCGA , LRG_301t1:c.140_155delinsCGA NP_004351.1:p.Glu47AlafsTer5
NM_001317184.1:c.140_155delinsCGA NP_001304113.1:p.Glu47AlafsTer5
NM_001317185.1:c.-1476_-1461delinsCGA NP_001304114.1:n.-1476_-1461delinsCGA
NM_001317186.1:c.-1680_-1665delinsCGA NP_001304115.1:n.-1680_-1665delinsCGA
NM_004360.4:c.140_155delinsCGA NP_004351.1:p.Glu47AlafsTer5
NM_004360.5:c.140_155delinsCGA MANE Select NP_004351.1:p.Glu47AlafsTer5
NM_001317184.2:c.140_155delinsCGA NP_001304113.1:p.Glu47AlafsTer5
NM_001317185.2:c.-1476_-1461delinsCGA NP_001304114.1:n.-1476_-1461delinsCGA
NM_001317186.2:c.-1680_-1665delinsCGA NP_001304115.1:n.-1680_-1665delinsCGA
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