Canonical Allele Identifier: CA2580612835
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071833
ClinVar RCV Id: RCV001384376
dbSNP Id: rs2152114474
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738398_68738399dup , CM000678.2:g.68738398_68738399dup GRCh38
NC_000016.9:g.68772301_68772302dup , CM000678.1:g.68772301_68772302dup GRCh37
NC_000016.8:g.67329802_67329803dup NCBI36
NG_008021.1:g.6107_6108dup , LRG_301:g.6107_6108dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.150_151dup MANE Select ENSP00000261769.4:p.Val51AlafsTer6
ENST00000261769.9:c.150_151dup ENSP00000261769.4:p.Val51AlafsTer6
ENST00000422392.6:c.150_151dup ENSP00000414946.2:p.Val51AlafsTer6
ENST00000566510.5:c.150_151dup ENSP00000458139.1:p.Val51AlafsTer6
ENST00000566612.5:c.150_151dup ENSP00000454782.1:p.Val51AlafsTer6
ENST00000611625.4:c.150_151dup ENSP00000481063.1:p.Val51AlafsTer6
ENST00000612417.4:c.150_151dup ENSP00000478360.1:p.Val51AlafsTer6
ENST00000621016.4:c.150_151dup ENSP00000480664.1:p.Val51AlafsTer6
NM_004360.3:c.150_151dup , LRG_301t1:c.150_151dup NP_004351.1:p.Val51AlafsTer6
NM_001317184.1:c.150_151dup NP_001304113.1:p.Val51AlafsTer6
NM_001317185.1:c.-1466_-1465dup NP_001304114.1:n.-1466_-1465dup
NM_001317186.1:c.-1670_-1669dup NP_001304115.1:n.-1670_-1669dup
NM_004360.4:c.150_151dup NP_004351.1:p.Val51AlafsTer6
NM_004360.5:c.150_151dup MANE Select NP_004351.1:p.Val51AlafsTer6
NM_001317184.2:c.150_151dup NP_001304113.1:p.Val51AlafsTer6
NM_001317185.2:c.-1466_-1465dup NP_001304114.1:n.-1466_-1465dup
NM_001317186.2:c.-1670_-1669dup NP_001304115.1:n.-1670_-1669dup
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