Canonical Allele Identifier: CA978522465
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1961083916
gnomAD v3: 16-68819490-CCCTT-C
gnomAD v4: 16-68819490-CCCTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819492_68819495del , CM000678.2:g.68819492_68819495del GRCh38
NC_000016.9:g.68853395_68853398del , CM000678.1:g.68853395_68853398del GRCh37
NC_000016.8:g.67410896_67410899del NCBI36
NG_008021.1:g.87201_87204del , LRG_301:g.87201_87204del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1711+67_1711+70del MANE Select ENSP00000261769.4:n.1711+67_1711+70del
ENST00000261769.9:c.1711+67_1711+70del ENSP00000261769.4:n.1711+67_1711+70del
ENST00000422392.6:c.1528+67_1528+70del ENSP00000414946.2:n.1528+67_1528+70del
ENST00000562836.5:n.1782+67_1782+70del
ENST00000566510.5:c.*377+67_*377+70del ENSP00000458139.1:n.*377+67_*377+70del
ENST00000566612.5:c.1566-2509_1566-2506del ENSP00000454782.1:n.1566-2509_1566-2506del
ENST00000611625.4:c.1774+67_1774+70del ENSP00000481063.1:n.1774+67_1774+70del
ENST00000612417.4:c.1711+67_1711+70del ENSP00000478360.1:n.1711+67_1711+70del
ENST00000621016.4:c.1711+67_1711+70del ENSP00000480664.1:n.1711+67_1711+70del
NM_004360.3:c.1711+67_1711+70del , LRG_301t1:c.1711+67_1711+70del NP_004351.1:n.1711+67_1711+70del
XM_011523488.1:c.976+67_976+70del XP_011521790.1:n.976+67_976+70del
XM_011523489.1:c.976+67_976+70del XP_011521791.1:n.976+67_976+70del
NM_001317184.1:c.1528+67_1528+70del NP_001304113.1:n.1528+67_1528+70del
NM_001317185.1:c.163+67_163+70del NP_001304114.1:n.163+67_163+70del
NM_001317186.1:c.-254-2509_-254-2506del NP_001304115.1:n.-254-2509_-254-2506del
NM_004360.4:c.1711+67_1711+70del NP_004351.1:n.1711+67_1711+70del
NM_004360.5:c.1711+67_1711+70del MANE Select NP_004351.1:n.1711+67_1711+70del
NM_001317184.2:c.1528+67_1528+70del NP_001304113.1:n.1528+67_1528+70del
NM_001317185.2:c.163+67_163+70del NP_001304114.1:n.163+67_163+70del
NM_001317186.2:c.-254-2509_-254-2506del NP_001304115.1:n.-254-2509_-254-2506del
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