Canonical Allele Identifier: CA2697555906
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2763812
ClinVar RCV Id: RCV003512565

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822110_68822136del , CM000678.2:g.68822110_68822136del GRCh38
NC_000016.9:g.68856013_68856039del , CM000678.1:g.68856013_68856039del GRCh37
NC_000016.8:g.67413514_67413540del NCBI36
NG_008021.1:g.89819_89845del , LRG_301:g.89819_89845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1821_1847del MANE Select ENSP00000261769.4:p.Lys608_Asp616del
ENST00000261769.9:c.1821_1847del ENSP00000261769.4:p.Lys608_Asp616del
ENST00000422392.6:c.1638_1664del ENSP00000414946.2:p.Lys547_Asp555del
ENST00000562836.5:n.1892_1918del
ENST00000566510.5:c.*487_*513del ENSP00000458139.1:n.*487_*513del
ENST00000566612.5:c.*61_*87del ENSP00000454782.1:n.*61_*87del
ENST00000611625.4:c.1884_1910del ENSP00000481063.1:p.Lys629_Asp637del
ENST00000612417.4:c.1821_1830+17del
ENST00000621016.4:c.1821_1847del ENSP00000480664.1:p.Lys608_Asp616del
NM_004360.3:c.1821_1847del , LRG_301t1:c.1821_1847del NP_004351.1:p.Lys608_Asp616del
XM_011523488.1:c.1086_1112del XP_011521790.1:p.Lys363_Asp371del
XM_011523489.1:c.1086_1112del XP_011521791.1:p.Lys363_Asp371del
NM_001317184.1:c.1638_1664del NP_001304113.1:p.Lys547_Asp555del
NM_001317185.1:c.273_299del NP_001304114.1:p.Lys92_Asp100del
NM_001317186.1:c.-145_-119del NP_001304115.1:n.-145_-119del
NM_004360.4:c.1821_1847del NP_004351.1:p.Lys608_Asp616del
NM_004360.5:c.1821_1847del MANE Select NP_004351.1:p.Lys608_Asp616del
NM_001317184.2:c.1638_1664del NP_001304113.1:p.Lys547_Asp555del
NM_001317185.2:c.273_299del NP_001304114.1:p.Lys92_Asp100del
NM_001317186.2:c.-145_-119del NP_001304115.1:n.-145_-119del