Canonical Allele Identifier: CA645372277
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2502957
ClinVar RCV Id: RCV003229691

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815598del , CM000678.2:g.68815598del GRCh38
NC_000016.9:g.68849501del , CM000678.1:g.68849501del GRCh37
NC_000016.8:g.67407002del NCBI36
NG_008021.1:g.83307del , LRG_301:g.83307del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1404del MANE Select ENSP00000261769.4:p.Ser469ProfsTer12
ENST00000261769.9:c.1404del ENSP00000261769.4:p.Ser469ProfsTer12
ENST00000422392.6:c.1221del ENSP00000414946.2:p.Ser408ProfsTer12
ENST00000562836.5:n.1475del
ENST00000566510.5:c.*70del ENSP00000458139.1:n.*70del
ENST00000566612.5:c.1404del ENSP00000454782.1:p.Ser469ProfsTer12
ENST00000611625.4:c.1467del ENSP00000481063.1:p.Ser490ProfsTer12
ENST00000612417.4:c.1404del ENSP00000478360.1:p.Ser469ProfsTer12
ENST00000621016.4:c.1404del ENSP00000480664.1:p.Ser469ProfsTer12
NM_004360.3:c.1404del , LRG_301t1:c.1404del NP_004351.1:p.Ser469ProfsTer12
XM_011523488.1:c.669del XP_011521790.1:p.Ser224ProfsTer12
XM_011523489.1:c.669del XP_011521791.1:p.Ser224ProfsTer12
NM_001317184.1:c.1221del NP_001304113.1:p.Ser408ProfsTer12
NM_001317185.1:c.-145del NP_001304114.1:n.-145del
NM_001317186.1:c.-416del NP_001304115.1:n.-416del
NM_004360.4:c.1404del NP_004351.1:p.Ser469ProfsTer12
NM_004360.5:c.1404del MANE Select NP_004351.1:p.Ser469ProfsTer12
NM_001317184.2:c.1221del NP_001304113.1:p.Ser408ProfsTer12
NM_001317185.2:c.-145del NP_001304114.1:n.-145del
NM_001317186.2:c.-416del NP_001304115.1:n.-416del