Canonical Allele Identifier: CA623137540
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 920245
ClinVar RCV Id: RCV001178908 RCV002068229
dbSNP Id: rs1567516239
gnomAD v2: 16-68863714-GTGGAAAGCCAAAGCA-G
gnomAD v3: 16-68829811-GTGGAAAGCCAAAGCA-G
gnomAD v4: 16-68829811-GTGGAAAGCCAAAGCA-G
MyVariant Identifiers: chr16:g.68863715_68863729del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829815_68829829del , CM000678.2:g.68829815_68829829del GRCh38
NC_000016.9:g.68863718_68863732del , CM000678.1:g.68863718_68863732del GRCh37
NC_000016.8:g.67421219_67421233del NCBI36
NG_008021.1:g.97524_97538del , LRG_301:g.97524_97538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2439+18_2439+32del MANE Select ENSP00000261769.4:n.2439+18_2439+32del
ENST00000261769.9:c.2439+18_2439+32del ENSP00000261769.4:n.2439+18_2439+32del
ENST00000422392.6:c.2256+18_2256+32del ENSP00000414946.2:n.2256+18_2256+32del
ENST00000562118.1:n.657+18_657+32del
ENST00000562836.5:n.2510+18_2510+32del
ENST00000566510.5:c.*1105+18_*1105+32del ENSP00000458139.1:n.*1105+18_*1105+32del
ENST00000566612.5:c.*679+18_*679+32del ENSP00000454782.1:n.*679+18_*679+32del
ENST00000611625.4:c.2502+18_2502+32del ENSP00000481063.1:n.2502+18_2502+32del
ENST00000612417.4:c.1853+3261_1853+3275del ENSP00000478360.1:n.1853+3261_1853+3275del
ENST00000621016.4:c.1866-4388_1866-4374del ENSP00000480664.1:n.1866-4388_1866-4374del
NM_004360.3:c.2439+18_2439+32del , LRG_301t1:c.2439+18_2439+32del NP_004351.1:n.2439+18_2439+32del
XM_011523488.1:c.1704+18_1704+32del XP_011521790.1:n.1704+18_1704+32del
XM_011523489.1:c.1704+18_1704+32del XP_011521791.1:n.1704+18_1704+32del
NM_001317184.1:c.2256+18_2256+32del NP_001304113.1:n.2256+18_2256+32del
NM_001317185.1:c.891+18_891+32del NP_001304114.1:n.891+18_891+32del
NM_001317186.1:c.474+18_474+32del NP_001304115.1:n.474+18_474+32del
NM_004360.4:c.2439+18_2439+32del NP_004351.1:n.2439+18_2439+32del
NM_004360.5:c.2439+18_2439+32del MANE Select NP_004351.1:n.2439+18_2439+32del
NM_001317184.2:c.2256+18_2256+32del NP_001304113.1:n.2256+18_2256+32del
NM_001317185.2:c.891+18_891+32del NP_001304114.1:n.891+18_891+32del
NM_001317186.2:c.474+18_474+32del NP_001304115.1:n.474+18_474+32del
Search 100 bp 5'
Search 100 bp 3'