Canonical Allele Identifier: CA723146227
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3224179
ClinVar RCV Id: RCV004518905
dbSNP Id: rs1408019740
gnomAD v3: 16-68833396-ACTC-A
gnomAD v4: 16-68833396-ACTC-A
MyVariant Identifiers: chr16:g.68867300_68867302del (hg19) chr16:g.68833397_68833399del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833400_68833402del , CM000678.2:g.68833400_68833402del GRCh38
NC_000016.9:g.68867303_68867305del , CM000678.1:g.68867303_68867305del GRCh37
NC_000016.8:g.67424804_67424806del NCBI36
NG_008021.1:g.101109_101111del , LRG_301:g.101109_101111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2550_2552del MANE Select ENSP00000261769.4:p.Ser851del
ENST00000261769.9:c.2550_2552del ENSP00000261769.4:p.Ser851del
ENST00000422392.6:c.2367_2369del ENSP00000414946.2:p.Ser790del
ENST00000562118.1:n.768_770del
ENST00000562836.5:n.2621_2623del
ENST00000566510.5:c.*1216_*1218del ENSP00000458139.1:n.*1216_*1218del
ENST00000566612.5:c.*790_*792del ENSP00000454782.1:n.*790_*792del
ENST00000611625.4:c.2613_2615del ENSP00000481063.1:p.Ser872del
ENST00000612417.4:c.1854-791_1854-789del ENSP00000478360.1:n.1854-791_1854-789del
ENST00000621016.4:c.1866-803_1866-801del ENSP00000480664.1:n.1866-803_1866-801del
NM_004360.3:c.2550_2552del , LRG_301t1:c.2550_2552del NP_004351.1:p.Ser851del
XM_011523488.1:c.1815_1817del XP_011521790.1:p.Ser606del
XM_011523489.1:c.1815_1817del XP_011521791.1:p.Ser606del
NM_001317184.1:c.2367_2369del NP_001304113.1:p.Ser790del
NM_001317185.1:c.1002_1004del NP_001304114.1:p.Ser335del
NM_001317186.1:c.585_587del NP_001304115.1:p.Ser196del
NM_004360.4:c.2550_2552del NP_004351.1:p.Ser851del
NM_004360.5:c.2550_2552del MANE Select NP_004351.1:p.Ser851del
NM_001317184.2:c.2367_2369del NP_001304113.1:p.Ser790del
NM_001317185.2:c.1002_1004del NP_001304114.1:p.Ser335del
NM_001317186.2:c.585_587del NP_001304115.1:p.Ser196del
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