Canonical Allele Identifier: CA658798631
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 532477
ClinVar RCV Id: RCV000639279 RCV003328448
dbSNP Id: rs1555516896
MyVariant Identifiers: chr16:g.68856109_68856110del (hg19) chr16:g.68822206_68822207del (hg38)
ERepo: CA658798631/MONDO:0007648/007 CA658798631/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822206_68822207del , CM000678.2:g.68822206_68822207del GRCh38
NC_000016.9:g.68856109_68856110del , CM000678.1:g.68856109_68856110del GRCh37
NC_000016.8:g.67413610_67413611del NCBI36
NG_008021.1:g.89915_89916del , LRG_301:g.89915_89916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1917_1918del MANE Select ENSP00000261769.4:p.Ile640SerfsTer22
ENST00000261769.9:c.1917_1918del ENSP00000261769.4:p.Ile640SerfsTer22
ENST00000422392.6:c.1734_1735del ENSP00000414946.2:p.Ile579SerfsTer22
ENST00000562836.5:n.1988_1989del
ENST00000566510.5:c.*583_*584del ENSP00000458139.1:n.*583_*584del
ENST00000566612.5:c.*157_*158del ENSP00000454782.1:n.*157_*158del
ENST00000611625.4:c.1980_1981del ENSP00000481063.1:p.Ile661SerfsTer22
ENST00000612417.4:c.1830+87_1830+88del ENSP00000478360.1:n.1830+87_1830+88del
ENST00000621016.4:c.1865+52_1865+53del ENSP00000480664.1:n.1865+52_1865+53del
NM_004360.3:c.1917_1918del , LRG_301t1:c.1917_1918del NP_004351.1:p.Ile640SerfsTer22
XM_011523488.1:c.1182_1183del XP_011521790.1:p.Ile395SerfsTer22
XM_011523489.1:c.1182_1183del XP_011521791.1:p.Ile395SerfsTer22
NM_001317184.1:c.1734_1735del NP_001304113.1:p.Ile579SerfsTer22
NM_001317185.1:c.369_370del NP_001304114.1:p.Ile124SerfsTer22
NM_001317186.1:c.-49_-48del NP_001304115.1:n.-49_-48del
NM_004360.4:c.1917_1918del NP_004351.1:p.Ile640SerfsTer22
NM_004360.5:c.1917_1918del MANE Select NP_004351.1:p.Ile640SerfsTer22
NM_001317184.2:c.1734_1735del NP_001304113.1:p.Ile579SerfsTer22
NM_001317185.2:c.369_370del NP_001304114.1:p.Ile124SerfsTer22
NM_001317186.2:c.-49_-48del NP_001304115.1:n.-49_-48del
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