Canonical Allele Identifier: CA2580091952
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2453316
ClinVar RCV Id: RCV003182771
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810201del , CM000678.2:g.68810201del GRCh38
NC_000016.9:g.68844104del , CM000678.1:g.68844104del GRCh37
NC_000016.8:g.67401605del NCBI36
NG_008021.1:g.77910del , LRG_301:g.77910del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.692del MANE Select ENSP00000261769.4:p.Phe231SerfsTer19
ENST00000261769.9:c.692del ENSP00000261769.4:p.Phe231SerfsTer19
ENST00000422392.6:c.692del ENSP00000414946.2:p.Phe231SerfsTer19
ENST00000561751.1:c.454+1353del
ENST00000562836.5:n.763del
ENST00000566510.5:c.536del ENSP00000458139.1:p.Phe179SerfsTer19
ENST00000566612.5:c.692del ENSP00000454782.1:p.Phe231SerfsTer19
ENST00000611625.4:c.692del ENSP00000481063.1:p.Phe231SerfsTer19
ENST00000612417.4:c.692del ENSP00000478360.1:p.Phe231SerfsTer19
ENST00000621016.4:c.692del ENSP00000480664.1:p.Phe231SerfsTer19
NM_004360.3:c.692del , LRG_301t1:c.692del NP_004351.1:p.Phe231SerfsTer19
XM_011523488.1:c.-44del XP_011521790.1:n.-44del
XM_011523489.1:c.-44del XP_011521791.1:n.-44del
NM_001317184.1:c.692del NP_001304113.1:p.Phe231SerfsTer19
NM_001317185.1:c.-924del NP_001304114.1:n.-924del
NM_001317186.1:c.-1128del NP_001304115.1:n.-1128del
NM_004360.4:c.692del NP_004351.1:p.Phe231SerfsTer19
NM_004360.5:c.692del MANE Select NP_004351.1:p.Phe231SerfsTer19
NM_001317184.2:c.692del NP_001304113.1:p.Phe231SerfsTer19
NM_001317185.2:c.-924del NP_001304114.1:n.-924del
NM_001317186.2:c.-1128del NP_001304115.1:n.-1128del
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