Canonical Allele Identifier: CA916081840
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 834985
ClinVar RCV Id: RCV001035780
dbSNP Id: rs1961224909

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823424_68823433del , CM000678.2:g.68823424_68823433del GRCh38
NC_000016.9:g.68857327_68857336del , CM000678.1:g.68857327_68857336del GRCh37
NC_000016.8:g.67414828_67414837del NCBI36
NG_008021.1:g.91133_91142del , LRG_301:g.91133_91142del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1962_1971del MANE Select ENSP00000261769.4:p.Lys655Ter
ENST00000261769.9:c.1962_1971del ENSP00000261769.4:p.Lys655Ter
ENST00000422392.6:c.1779_1788del ENSP00000414946.2:p.Lys594Ter
ENST00000562118.1:n.180_189del
ENST00000562836.5:n.2033_2042del
ENST00000566510.5:c.*628_*637del ENSP00000458139.1:n.*628_*637del
ENST00000566612.5:c.*202_*211del ENSP00000454782.1:n.*202_*211del
ENST00000611625.4:c.2025_2034del ENSP00000481063.1:p.Lys676Ter
ENST00000612417.4:c.1830+1305_1830+1314del ENSP00000478360.1:n.1830+1305_1830+1314del
ENST00000621016.4:c.1865+1270_1865+1279del ENSP00000480664.1:n.1865+1270_1865+1279del
NM_004360.3:c.1962_1971del , LRG_301t1:c.1962_1971del NP_004351.1:p.Lys655Ter
XM_011523488.1:c.1227_1236del XP_011521790.1:p.Lys410Ter
XM_011523489.1:c.1227_1236del XP_011521791.1:p.Lys410Ter
NM_001317184.1:c.1779_1788del NP_001304113.1:p.Lys594Ter
NM_001317185.1:c.414_423del NP_001304114.1:p.Lys139Ter
NM_001317186.1:c.-4_6del
NM_004360.4:c.1962_1971del NP_004351.1:p.Lys655Ter
NM_004360.5:c.1962_1971del MANE Select NP_004351.1:p.Lys655Ter
NM_001317184.2:c.1779_1788del NP_001304113.1:p.Lys594Ter
NM_001317185.2:c.414_423del NP_001304114.1:p.Lys139Ter
NM_001317186.2:c.-4_6del