Canonical Allele Identifier: CA2697555909
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2708667
ClinVar RCV Id: RCV003513005

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815576_68815583del , CM000678.2:g.68815576_68815583del GRCh38
NC_000016.9:g.68849479_68849486del , CM000678.1:g.68849479_68849486del GRCh37
NC_000016.8:g.67406980_67406987del NCBI36
NG_008021.1:g.83285_83292del , LRG_301:g.83285_83292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1382_1389del MANE Select ENSP00000261769.4:p.Pro461ArgfsTer19
ENST00000261769.9:c.1382_1389del ENSP00000261769.4:p.Pro461ArgfsTer19
ENST00000422392.6:c.1199_1206del ENSP00000414946.2:p.Pro400ArgfsTer19
ENST00000562836.5:n.1453_1460del
ENST00000566510.5:c.*48_*55del ENSP00000458139.1:n.*48_*55del
ENST00000566612.5:c.1382_1389del ENSP00000454782.1:p.Pro461ArgfsTer19
ENST00000611625.4:c.1445_1452del ENSP00000481063.1:p.Pro482ArgfsTer19
ENST00000612417.4:c.1382_1389del ENSP00000478360.1:p.Pro461ArgfsTer19
ENST00000621016.4:c.1382_1389del ENSP00000480664.1:p.Pro461ArgfsTer19
NM_004360.3:c.1382_1389del , LRG_301t1:c.1382_1389del NP_004351.1:p.Pro461ArgfsTer19
XM_011523488.1:c.647_654del XP_011521790.1:p.Pro216ArgfsTer19
XM_011523489.1:c.647_654del XP_011521791.1:p.Pro216ArgfsTer19
NM_001317184.1:c.1199_1206del NP_001304113.1:p.Pro400ArgfsTer19
NM_001317185.1:c.-167_-160del NP_001304114.1:n.-167_-160del
NM_001317186.1:c.-438_-431del NP_001304115.1:n.-438_-431del
NM_004360.4:c.1382_1389del NP_004351.1:p.Pro461ArgfsTer19
NM_004360.5:c.1382_1389del MANE Select NP_004351.1:p.Pro461ArgfsTer19
NM_001317184.2:c.1199_1206del NP_001304113.1:p.Pro400ArgfsTer19
NM_001317185.2:c.-167_-160del NP_001304114.1:n.-167_-160del
NM_001317186.2:c.-438_-431del NP_001304115.1:n.-438_-431del