Canonical Allele Identifier: CA2580091957
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2007943
ClinVar RCV Id: RCV002816461
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810285del , CM000678.2:g.68810285del GRCh38
NC_000016.9:g.68844188del , CM000678.1:g.68844188del GRCh37
NC_000016.8:g.67401689del NCBI36
NG_008021.1:g.77994del , LRG_301:g.77994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.776del MANE Select ENSP00000261769.4:p.Lys259SerfsTer23
ENST00000261769.9:c.776del ENSP00000261769.4:p.Lys259SerfsTer23
ENST00000422392.6:c.776del ENSP00000414946.2:p.Lys259SerfsTer23
ENST00000561751.1:c.455-1399del
ENST00000562836.5:n.847del
ENST00000566510.5:c.620del ENSP00000458139.1:p.Lys207SerfsTer23
ENST00000566612.5:c.776del ENSP00000454782.1:p.Lys259SerfsTer23
ENST00000611625.4:c.776del ENSP00000481063.1:p.Lys259SerfsTer23
ENST00000612417.4:c.776del ENSP00000478360.1:p.Lys259SerfsTer23
ENST00000621016.4:c.776del ENSP00000480664.1:p.Lys259SerfsTer23
NM_004360.3:c.776del , LRG_301t1:c.776del NP_004351.1:p.Lys259SerfsTer23
XM_011523488.1:c.41del XP_011521790.1:p.Lys14SerfsTer23
XM_011523489.1:c.41del XP_011521791.1:p.Lys14SerfsTer23
NM_001317184.1:c.776del NP_001304113.1:p.Lys259SerfsTer23
NM_001317185.1:c.-840del NP_001304114.1:n.-840del
NM_001317186.1:c.-1044del NP_001304115.1:n.-1044del
NM_004360.4:c.776del NP_004351.1:p.Lys259SerfsTer23
NM_004360.5:c.776del MANE Select NP_004351.1:p.Lys259SerfsTer23
NM_001317184.2:c.776del NP_001304113.1:p.Lys259SerfsTer23
NM_001317185.2:c.-840del NP_001304114.1:n.-840del
NM_001317186.2:c.-1044del NP_001304115.1:n.-1044del
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