Canonical Allele Identifier: CA2582342526
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583454
ClinVar RCV Id: RCV003337125

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819403_68819408delinsACGTA , CM000678.2:g.68819403_68819408delinsACGTA GRCh38
NC_000016.9:g.68853306_68853311delinsACGTA , CM000678.1:g.68853306_68853311delinsACGTA GRCh37
NC_000016.8:g.67410807_67410812delinsACGTA NCBI36
NG_008021.1:g.87112_87117delinsACGTA , LRG_301:g.87112_87117delinsACGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1689_1694delinsACGTA MANE Select ENSP00000261769.4:p.Leu564ArgfsTer3
ENST00000261769.9:c.1689_1694delinsACGTA ENSP00000261769.4:p.Leu564ArgfsTer3
ENST00000422392.6:c.1506_1511delinsACGTA ENSP00000414946.2:p.Leu503ArgfsTer3
ENST00000562836.5:n.1760_1765delinsACGTA
ENST00000566510.5:c.*355_*360delinsACGTA ENSP00000458139.1:n.*355_*360delinsACGTA
ENST00000566612.5:c.1566-2598_1566-2593delinsACGTA ENSP00000454782.1:n.1566-2598_1566-2593de...
ENST00000611625.4:c.1752_1757delinsACGTA ENSP00000481063.1:p.Leu585ArgfsTer3
ENST00000612417.4:c.1689_1694delinsACGTA ENSP00000478360.1:p.Leu564ArgfsTer3
ENST00000621016.4:c.1689_1694delinsACGTA ENSP00000480664.1:p.Leu564ArgfsTer3
NM_004360.3:c.1689_1694delinsACGTA , LRG_301t1:c.1689_1694delinsACGTA NP_004351.1:p.Leu564ArgfsTer3
XM_011523488.1:c.954_959delinsACGTA XP_011521790.1:p.Leu319ArgfsTer3
XM_011523489.1:c.954_959delinsACGTA XP_011521791.1:p.Leu319ArgfsTer3
NM_001317184.1:c.1506_1511delinsACGTA NP_001304113.1:p.Leu503ArgfsTer3
NM_001317185.1:c.141_146delinsACGTA NP_001304114.1:p.Leu48ArgfsTer3
NM_001317186.1:c.-254-2598_-254-2593delinsACGTA NP_001304115.1:n.-254-2598_-254-2593delin...
NM_004360.4:c.1689_1694delinsACGTA NP_004351.1:p.Leu564ArgfsTer3
NM_004360.5:c.1689_1694delinsACGTA MANE Select NP_004351.1:p.Leu564ArgfsTer3
NM_001317184.2:c.1506_1511delinsACGTA NP_001304113.1:p.Leu503ArgfsTer3
NM_001317185.2:c.141_146delinsACGTA NP_001304114.1:p.Leu48ArgfsTer3
NM_001317186.2:c.-254-2598_-254-2593delinsACGTA NP_001304115.1:n.-254-2598_-254-2593delin...