Canonical Allele Identifier: CA2580091948
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2109227
ClinVar RCV Id: RCV003031796

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815490_68815503del , CM000678.2:g.68815490_68815503del GRCh38
NC_000016.9:g.68849393_68849406del , CM000678.1:g.68849393_68849406del GRCh37
NC_000016.8:g.67406894_67406907del NCBI36
NG_008021.1:g.83199_83212del , LRG_301:g.83199_83212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1321-25_1321-12del MANE Select ENSP00000261769.4:n.1321-25_1321-12del
ENST00000261769.9:c.1321-25_1321-12del ENSP00000261769.4:n.1321-25_1321-12del
ENST00000422392.6:c.1138-25_1138-12del ENSP00000414946.2:n.1138-25_1138-12del
ENST00000562836.5:n.1392-25_1392-12del
ENST00000566510.5:c.1232-25_1232-12del ENSP00000458139.1:n.1232-25_1232-12del
ENST00000566612.5:c.1321-25_1321-12del ENSP00000454782.1:n.1321-25_1321-12del
ENST00000611625.4:c.1384-25_1384-12del ENSP00000481063.1:n.1384-25_1384-12del
ENST00000612417.4:c.1321-25_1321-12del ENSP00000478360.1:n.1321-25_1321-12del
ENST00000621016.4:c.1321-25_1321-12del ENSP00000480664.1:n.1321-25_1321-12del
NM_004360.3:c.1321-25_1321-12del , LRG_301t1:c.1321-25_1321-12del NP_004351.1:n.1321-25_1321-12del
XM_011523488.1:c.586-25_586-12del XP_011521790.1:n.586-25_586-12del
XM_011523489.1:c.586-25_586-12del XP_011521791.1:n.586-25_586-12del
NM_001317184.1:c.1138-25_1138-12del NP_001304113.1:n.1138-25_1138-12del
NM_001317185.1:c.-228-25_-228-12del NP_001304114.1:n.-228-25_-228-12del
NM_001317186.1:c.-499-25_-499-12del NP_001304115.1:n.-499-25_-499-12del
NM_004360.4:c.1321-25_1321-12del NP_004351.1:n.1321-25_1321-12del
NM_004360.5:c.1321-25_1321-12del MANE Select NP_004351.1:n.1321-25_1321-12del
NM_001317184.2:c.1138-25_1138-12del NP_001304113.1:n.1138-25_1138-12del
NM_001317185.2:c.-228-25_-228-12del NP_001304114.1:n.-228-25_-228-12del
NM_001317186.2:c.-499-25_-499-12del NP_001304115.1:n.-499-25_-499-12del