Canonical Allele Identifier: CA916081847
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 834046
ClinVar RCV Id: RCV001034597
dbSNP Id: rs1961434061
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829784_68829785del , CM000678.2:g.68829784_68829785del GRCh38
NC_000016.9:g.68863687_68863688del , CM000678.1:g.68863687_68863688del GRCh37
NC_000016.8:g.67421188_67421189del NCBI36
NG_008021.1:g.97493_97494del , LRG_301:g.97493_97494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2426_2427del MANE Select ENSP00000261769.4:p.Asn809IlefsTer3
ENST00000261769.9:c.2426_2427del ENSP00000261769.4:p.Asn809IlefsTer3
ENST00000422392.6:c.2243_2244del ENSP00000414946.2:p.Asn748IlefsTer3
ENST00000562118.1:n.644_645del
ENST00000562836.5:n.2497_2498del
ENST00000566510.5:c.*1092_*1093del ENSP00000458139.1:n.*1092_*1093del
ENST00000566612.5:c.*666_*667del ENSP00000454782.1:n.*666_*667del
ENST00000611625.4:c.2489_2490del ENSP00000481063.1:p.Asn830IlefsTer3
ENST00000612417.4:c.1853+3230_1853+3231del ENSP00000478360.1:n.1853+3230_1853+3231del
ENST00000621016.4:c.1866-4419_1866-4418del ENSP00000480664.1:n.1866-4419_1866-4418del
NM_004360.3:c.2426_2427del , LRG_301t1:c.2426_2427del NP_004351.1:p.Asn809IlefsTer3
XM_011523488.1:c.1691_1692del XP_011521790.1:p.Asn564IlefsTer3
XM_011523489.1:c.1691_1692del XP_011521791.1:p.Asn564IlefsTer3
NM_001317184.1:c.2243_2244del NP_001304113.1:p.Asn748IlefsTer3
NM_001317185.1:c.878_879del NP_001304114.1:p.Asn293IlefsTer3
NM_001317186.1:c.461_462del NP_001304115.1:p.Asn154IlefsTer3
NM_004360.4:c.2426_2427del NP_004351.1:p.Asn809IlefsTer3
NM_004360.5:c.2426_2427del MANE Select NP_004351.1:p.Asn809IlefsTer3
NM_001317184.2:c.2243_2244del NP_001304113.1:p.Asn748IlefsTer3
NM_001317185.2:c.878_879del NP_001304114.1:p.Asn293IlefsTer3
NM_001317186.2:c.461_462del NP_001304115.1:p.Asn154IlefsTer3
Search 100 bp 5'
Search 100 bp 3'