Canonical Allele Identifier: CA2582342530
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2587424
ClinVar RCV Id: RCV003360872
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829794del , CM000678.2:g.68829794del GRCh38
NC_000016.9:g.68863697del , CM000678.1:g.68863697del GRCh37
NC_000016.8:g.67421198del NCBI36
NG_008021.1:g.97503del , LRG_301:g.97503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2436del MANE Select ENSP00000261769.4:p.Asp812GlufsTer4
ENST00000261769.9:c.2436del ENSP00000261769.4:p.Asp812GlufsTer4
ENST00000422392.6:c.2253del ENSP00000414946.2:p.Asp751GlufsTer4
ENST00000562118.1:n.654del
ENST00000562836.5:n.2507del
ENST00000566510.5:c.*1102del ENSP00000458139.1:n.*1102del
ENST00000566612.5:c.*676del ENSP00000454782.1:n.*676del
ENST00000611625.4:c.2499del ENSP00000481063.1:p.Asp833GlufsTer4
ENST00000612417.4:c.1853+3240del ENSP00000478360.1:n.1853+3240del
ENST00000621016.4:c.1866-4409del ENSP00000480664.1:n.1866-4409del
NM_004360.3:c.2436del , LRG_301t1:c.2436del NP_004351.1:p.Asp812GlufsTer4
XM_011523488.1:c.1701del XP_011521790.1:p.Asp567GlufsTer4
XM_011523489.1:c.1701del XP_011521791.1:p.Asp567GlufsTer4
NM_001317184.1:c.2253del NP_001304113.1:p.Asp751GlufsTer4
NM_001317185.1:c.888del NP_001304114.1:p.Asp296GlufsTer4
NM_001317186.1:c.471del NP_001304115.1:p.Asp157GlufsTer4
NM_004360.4:c.2436del NP_004351.1:p.Asp812GlufsTer4
NM_004360.5:c.2436del MANE Select NP_004351.1:p.Asp812GlufsTer4
NM_001317184.2:c.2253del NP_001304113.1:p.Asp751GlufsTer4
NM_001317185.2:c.888del NP_001304114.1:p.Asp296GlufsTer4
NM_001317186.2:c.471del NP_001304115.1:p.Asp157GlufsTer4
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