Canonical Allele Identifier: CA658658477
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 485474
ClinVar RCV Id: RCV000571292
dbSNP Id: rs1555514433

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801775_68801776delinsCA , CM000678.2:g.68801775_68801776delinsCA GRCh38
NC_000016.9:g.68835678_68835679delinsCA , CM000678.1:g.68835678_68835679delinsCA GRCh37
NC_000016.8:g.67393179_67393180delinsCA NCBI36
NG_008021.1:g.69484_69485delinsCA , LRG_301:g.69484_69485delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.269_270delinsCA MANE Select ENSP00000261769.4:p.Arg90Pro
ENST00000261769.9:c.269_270delinsCA ENSP00000261769.4:p.Arg90Pro
ENST00000422392.6:c.269_270delinsCA ENSP00000414946.2:p.Arg90Pro
ENST00000561751.1:c.36_37delinsCA
ENST00000562836.5:n.340_341delinsCA
ENST00000564676.5:n.551_552delinsCA
ENST00000564745.1:n.264_265delinsCA
ENST00000566510.5:c.269_270delinsCA ENSP00000458139.1:p.Arg90Pro
ENST00000566612.5:c.269_270delinsCA ENSP00000454782.1:p.Arg90Pro
ENST00000611625.4:c.269_270delinsCA ENSP00000481063.1:p.Arg90Pro
ENST00000612417.4:c.269_270delinsCA ENSP00000478360.1:p.Arg90Pro
ENST00000621016.4:c.269_270delinsCA ENSP00000480664.1:p.Arg90Pro
NM_004360.3:c.269_270delinsCA , LRG_301t1:c.269_270delinsCA NP_004351.1:p.Arg90Pro
XM_011523488.1:c.-467_-466delinsCA XP_011521790.1:n.-467_-466delinsCA
XM_011523489.1:c.-467_-466delinsCA XP_011521791.1:n.-467_-466delinsCA
NM_001317184.1:c.269_270delinsCA NP_001304113.1:p.Arg90Pro
NM_001317185.1:c.-1347_-1346delinsCA NP_001304114.1:n.-1347_-1346delinsCA
NM_001317186.1:c.-1551_-1550delinsCA NP_001304115.1:n.-1551_-1550delinsCA
NM_004360.4:c.269_270delinsCA NP_004351.1:p.Arg90Pro
NM_004360.5:c.269_270delinsCA MANE Select NP_004351.1:p.Arg90Pro
NM_001317184.2:c.269_270delinsCA NP_001304113.1:p.Arg90Pro
NM_001317185.2:c.-1347_-1346delinsCA NP_001304114.1:n.-1347_-1346delinsCA
NM_001317186.2:c.-1551_-1550delinsCA NP_001304115.1:n.-1551_-1550delinsCA