Canonical Allele Identifier: CA2580092036
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2031172
ClinVar RCV Id: RCV002898772
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829669_68829675del , CM000678.2:g.68829669_68829675del GRCh38
NC_000016.9:g.68863572_68863578del , CM000678.1:g.68863572_68863578del GRCh37
NC_000016.8:g.67421073_67421079del NCBI36
NG_008021.1:g.97378_97384del , LRG_301:g.97378_97384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2311_2317del MANE Select ENSP00000261769.4:p.Gln771ThrfsTer10
ENST00000261769.9:c.2311_2317del ENSP00000261769.4:p.Gln771ThrfsTer10
ENST00000422392.6:c.2128_2134del ENSP00000414946.2:p.Gln710ThrfsTer10
ENST00000562118.1:n.529_535del
ENST00000562836.5:n.2382_2388del
ENST00000566510.5:c.*977_*983del ENSP00000458139.1:n.*977_*983del
ENST00000566612.5:c.*551_*557del ENSP00000454782.1:n.*551_*557del
ENST00000611625.4:c.2374_2380del ENSP00000481063.1:p.Gln792ThrfsTer10
ENST00000612417.4:c.1853+3115_1853+3121del ENSP00000478360.1:n.1853+3115_1853+3121del
ENST00000621016.4:c.1866-4534_1866-4528del ENSP00000480664.1:n.1866-4534_1866-4528del
NM_004360.3:c.2311_2317del , LRG_301t1:c.2311_2317del NP_004351.1:p.Gln771ThrfsTer10
XM_011523488.1:c.1576_1582del XP_011521790.1:p.Gln526ThrfsTer10
XM_011523489.1:c.1576_1582del XP_011521791.1:p.Gln526ThrfsTer10
NM_001317184.1:c.2128_2134del NP_001304113.1:p.Gln710ThrfsTer10
NM_001317185.1:c.763_769del NP_001304114.1:p.Gln255ThrfsTer10
NM_001317186.1:c.346_352del NP_001304115.1:p.Gln116ThrfsTer10
NM_004360.4:c.2311_2317del NP_004351.1:p.Gln771ThrfsTer10
NM_004360.5:c.2311_2317del MANE Select NP_004351.1:p.Gln771ThrfsTer10
NM_001317184.2:c.2128_2134del NP_001304113.1:p.Gln710ThrfsTer10
NM_001317185.2:c.763_769del NP_001304114.1:p.Gln255ThrfsTer10
NM_001317186.2:c.346_352del NP_001304115.1:p.Gln116ThrfsTer10
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