Canonical Allele Identifier: CA2580091863
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713221
ClinVar RCV Id: RCV003156016
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738375dup , CM000678.2:g.68738375dup GRCh38
NC_000016.9:g.68772278dup , CM000678.1:g.68772278dup GRCh37
NC_000016.8:g.67329779dup NCBI36
NG_008021.1:g.6084dup , LRG_301:g.6084dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.127dup MANE Select ENSP00000261769.4:p.Arg43ProfsTer16
ENST00000261769.9:c.127dup ENSP00000261769.4:p.Arg43ProfsTer16
ENST00000422392.6:c.127dup ENSP00000414946.2:p.Arg43ProfsTer16
ENST00000566510.5:c.127dup ENSP00000458139.1:p.Arg43ProfsTer16
ENST00000566612.5:c.127dup ENSP00000454782.1:p.Arg43ProfsTer16
ENST00000611625.4:c.127dup ENSP00000481063.1:p.Arg43ProfsTer16
ENST00000612417.4:c.127dup ENSP00000478360.1:p.Arg43ProfsTer16
ENST00000621016.4:c.127dup ENSP00000480664.1:p.Arg43ProfsTer16
NM_004360.3:c.127dup , LRG_301t1:c.127dup NP_004351.1:p.Arg43ProfsTer16
NM_001317184.1:c.127dup NP_001304113.1:p.Arg43ProfsTer16
NM_001317185.1:c.-1489dup NP_001304114.1:n.-1489dup
NM_001317186.1:c.-1693dup NP_001304115.1:n.-1693dup
NM_004360.4:c.127dup NP_004351.1:p.Arg43ProfsTer16
NM_004360.5:c.127dup MANE Select NP_004351.1:p.Arg43ProfsTer16
NM_001317184.2:c.127dup NP_001304113.1:p.Arg43ProfsTer16
NM_001317185.2:c.-1489dup NP_001304114.1:n.-1489dup
NM_001317186.2:c.-1693dup NP_001304115.1:n.-1693dup
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