Canonical Allele Identifier: CA1139664763
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926514
dbSNP Id: rs1961081411

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819424del , CM000678.2:g.68819424del GRCh38
NC_000016.9:g.68853327del , CM000678.1:g.68853327del GRCh37
NC_000016.8:g.67410828del NCBI36
NG_008021.1:g.87133del , LRG_301:g.87133del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1710del MANE Select ENSP00000261769.4:p.Asn570LysfsTer14
ENST00000261769.9:c.1710del ENSP00000261769.4:p.Asn570LysfsTer14
ENST00000422392.6:c.1527del ENSP00000414946.2:p.Asn509LysfsTer14
ENST00000562836.5:n.1781del
ENST00000566510.5:c.*376del ENSP00000458139.1:n.*376del
ENST00000566612.5:c.1566-2577del ENSP00000454782.1:n.1566-2577del
ENST00000611625.4:c.1773del ENSP00000481063.1:p.Asn591LysfsTer14
ENST00000612417.4:c.1710del ENSP00000478360.1:p.Asn570LysfsTer14
ENST00000621016.4:c.1710del ENSP00000480664.1:p.Asn570LysfsTer14
NM_004360.3:c.1710del , LRG_301t1:c.1710del NP_004351.1:p.Asn570LysfsTer14
XM_011523488.1:c.975del XP_011521790.1:p.Asn325LysfsTer14
XM_011523489.1:c.975del XP_011521791.1:p.Asn325LysfsTer14
NM_001317184.1:c.1527del NP_001304113.1:p.Asn509LysfsTer14
NM_001317185.1:c.162del NP_001304114.1:p.Asn54LysfsTer14
NM_001317186.1:c.-254-2577del NP_001304115.1:n.-254-2577del
NM_004360.4:c.1710del NP_004351.1:p.Asn570LysfsTer14
NM_004360.5:c.1710del MANE Select NP_004351.1:p.Asn570LysfsTer14
NM_001317184.2:c.1527del NP_001304113.1:p.Asn509LysfsTer14
NM_001317185.2:c.162del NP_001304114.1:p.Asn54LysfsTer14
NM_001317186.2:c.-254-2577del NP_001304115.1:n.-254-2577del