Canonical Allele Identifier: CA2573152582
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1598659
ClinVar RCV Id: RCV002122693
dbSNP Id: rs2152129873

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68808586del , CM000678.2:g.68808586del GRCh38
NC_000016.9:g.68842489del , CM000678.1:g.68842489del GRCh37
NC_000016.8:g.67399990del NCBI36
NG_008021.1:g.76295del , LRG_301:g.76295del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.531+19del MANE Select ENSP00000261769.4:n.531+19del
ENST00000261769.9:c.531+19del ENSP00000261769.4:n.531+19del
ENST00000422392.6:c.531+19del ENSP00000414946.2:n.531+19del
ENST00000561751.1:c.298+19del
ENST00000562836.5:n.602+19del
ENST00000564676.5:n.813+19del
ENST00000564745.1:n.526+19del
ENST00000566510.5:c.531+19del ENSP00000458139.1:n.531+19del
ENST00000566612.5:c.531+19del ENSP00000454782.1:n.531+19del
ENST00000567320.1:n.41+19del
ENST00000611625.4:c.531+19del ENSP00000481063.1:n.531+19del
ENST00000612417.4:c.531+19del ENSP00000478360.1:n.531+19del
ENST00000621016.4:c.531+19del ENSP00000480664.1:n.531+19del
NM_004360.3:c.531+19del , LRG_301t1:c.531+19del NP_004351.1:n.531+19del
XM_011523488.1:c.-205+19del XP_011521790.1:n.-205+19del
XM_011523489.1:c.-205+19del XP_011521791.1:n.-205+19del
NM_001317184.1:c.531+19del NP_001304113.1:n.531+19del
NM_001317185.1:c.-1085+19del NP_001304114.1:n.-1085+19del
NM_001317186.1:c.-1289+19del NP_001304115.1:n.-1289+19del
NM_004360.4:c.531+19del NP_004351.1:n.531+19del
NM_004360.5:c.531+19del MANE Select NP_004351.1:n.531+19del
NM_001317184.2:c.531+19del NP_001304113.1:n.531+19del
NM_001317185.2:c.-1085+19del NP_001304114.1:n.-1085+19del
NM_001317186.2:c.-1289+19del NP_001304115.1:n.-1289+19del