Canonical Allele Identifier: CA2580612824
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573310
ClinVar RCV Id: RCV003316999
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801765dup , CM000678.2:g.68801765dup GRCh38
NC_000016.9:g.68835668dup , CM000678.1:g.68835668dup GRCh37
NC_000016.8:g.67393169dup NCBI36
NG_008021.1:g.69474dup , LRG_301:g.69474dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.259dup MANE Select ENSP00000261769.4:p.Arg87LysfsTer7
ENST00000261769.9:c.259dup ENSP00000261769.4:p.Arg87LysfsTer7
ENST00000422392.6:c.259dup ENSP00000414946.2:p.Arg87LysfsTer7
ENST00000561751.1:c.26dup
ENST00000562836.5:n.330dup
ENST00000564676.5:n.541dup
ENST00000564745.1:n.254dup
ENST00000566510.5:c.259dup ENSP00000458139.1:p.Arg87LysfsTer7
ENST00000566612.5:c.259dup ENSP00000454782.1:p.Arg87LysfsTer7
ENST00000611625.4:c.259dup ENSP00000481063.1:p.Arg87LysfsTer7
ENST00000612417.4:c.259dup ENSP00000478360.1:p.Arg87LysfsTer7
ENST00000621016.4:c.259dup ENSP00000480664.1:p.Arg87LysfsTer7
NM_004360.3:c.259dup , LRG_301t1:c.259dup NP_004351.1:p.Arg87LysfsTer7
XM_011523488.1:c.-477dup XP_011521790.1:n.-477dup
XM_011523489.1:c.-477dup XP_011521791.1:n.-477dup
NM_001317184.1:c.259dup NP_001304113.1:p.Arg87LysfsTer7
NM_001317185.1:c.-1357dup NP_001304114.1:n.-1357dup
NM_001317186.1:c.-1561dup NP_001304115.1:n.-1561dup
NM_004360.4:c.259dup NP_004351.1:p.Arg87LysfsTer7
NM_004360.5:c.259dup MANE Select NP_004351.1:p.Arg87LysfsTer7
NM_001317184.2:c.259dup NP_001304113.1:p.Arg87LysfsTer7
NM_001317185.2:c.-1357dup NP_001304114.1:n.-1357dup
NM_001317186.2:c.-1561dup NP_001304115.1:n.-1561dup
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