Canonical Allele Identifier: CA2580612838
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332032
ClinVar RCV Id: RCV001804548
dbSNP Id: rs2152114500
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738422_68738423dup , CM000678.2:g.68738422_68738423dup GRCh38
NC_000016.9:g.68772325_68772326dup , CM000678.1:g.68772325_68772326dup GRCh37
NC_000016.8:g.67329826_67329827dup NCBI36
NG_008021.1:g.6131_6132dup , LRG_301:g.6131_6132dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.163+11_163+12dup MANE Select ENSP00000261769.4:n.163+11_163+12dup
ENST00000261769.9:c.163+11_163+12dup ENSP00000261769.4:n.163+11_163+12dup
ENST00000422392.6:c.163+11_163+12dup ENSP00000414946.2:n.163+11_163+12dup
ENST00000566510.5:c.163+11_163+12dup ENSP00000458139.1:n.163+11_163+12dup
ENST00000566612.5:c.163+11_163+12dup ENSP00000454782.1:n.163+11_163+12dup
ENST00000611625.4:c.163+11_163+12dup ENSP00000481063.1:n.163+11_163+12dup
ENST00000612417.4:c.163+11_163+12dup ENSP00000478360.1:n.163+11_163+12dup
ENST00000621016.4:c.163+11_163+12dup ENSP00000480664.1:n.163+11_163+12dup
NM_004360.3:c.163+11_163+12dup , LRG_301t1:c.163+11_163+12dup NP_004351.1:n.163+11_163+12dup
NM_001317184.1:c.163+11_163+12dup NP_001304113.1:n.163+11_163+12dup
NM_001317185.1:c.-1453+11_-1453+12dup NP_001304114.1:n.-1453+11_-1453+12dup
NM_001317186.1:c.-1657+11_-1657+12dup NP_001304115.1:n.-1657+11_-1657+12dup
NM_004360.4:c.163+11_163+12dup NP_004351.1:n.163+11_163+12dup
NM_004360.5:c.163+11_163+12dup MANE Select NP_004351.1:n.163+11_163+12dup
NM_001317184.2:c.163+11_163+12dup NP_001304113.1:n.163+11_163+12dup
NM_001317185.2:c.-1453+11_-1453+12dup NP_001304114.1:n.-1453+11_-1453+12dup
NM_001317186.2:c.-1657+11_-1657+12dup NP_001304115.1:n.-1657+11_-1657+12dup
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