Canonical Allele Identifier: CA2582342523
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583376
ClinVar RCV Id: RCV003337047

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819296_68819297del , CM000678.2:g.68819296_68819297del GRCh38
NC_000016.9:g.68853199_68853200del , CM000678.1:g.68853199_68853200del GRCh37
NC_000016.8:g.67410700_67410701del NCBI36
NG_008021.1:g.87005_87006del , LRG_301:g.87005_87006del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1582_1583del MANE Select ENSP00000261769.4:p.Asp528HisfsTer8
ENST00000261769.9:c.1582_1583del ENSP00000261769.4:p.Asp528HisfsTer8
ENST00000422392.6:c.1399_1400del ENSP00000414946.2:p.Asp467HisfsTer8
ENST00000562836.5:n.1653_1654del
ENST00000566510.5:c.*248_*249del ENSP00000458139.1:n.*248_*249del
ENST00000566612.5:c.1566-2705_1566-2704del ENSP00000454782.1:n.1566-2705_1566-2704de...
ENST00000611625.4:c.1645_1646del ENSP00000481063.1:p.Asp549HisfsTer8
ENST00000612417.4:c.1582_1583del ENSP00000478360.1:p.Asp528HisfsTer8
ENST00000621016.4:c.1582_1583del ENSP00000480664.1:p.Asp528HisfsTer8
NM_004360.3:c.1582_1583del , LRG_301t1:c.1582_1583del NP_004351.1:p.Asp528HisfsTer8
XM_011523488.1:c.847_848del XP_011521790.1:p.Asp283HisfsTer8
XM_011523489.1:c.847_848del XP_011521791.1:p.Asp283HisfsTer8
NM_001317184.1:c.1399_1400del NP_001304113.1:p.Asp467HisfsTer8
NM_001317185.1:c.34_35del NP_001304114.1:p.Asp12HisfsTer8
NM_001317186.1:c.-254-2705_-254-2704del NP_001304115.1:n.-254-2705_-254-2704del
NM_004360.4:c.1582_1583del NP_004351.1:p.Asp528HisfsTer8
NM_004360.5:c.1582_1583del MANE Select NP_004351.1:p.Asp528HisfsTer8
NM_001317184.2:c.1399_1400del NP_001304113.1:p.Asp467HisfsTer8
NM_001317185.2:c.34_35del NP_001304114.1:p.Asp12HisfsTer8
NM_001317186.2:c.-254-2705_-254-2704del NP_001304115.1:n.-254-2705_-254-2704del