Canonical Allele Identifier: CA2582342564
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583794
ClinVar RCV Id: RCV003334716

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68808455_68808456del , CM000678.2:g.68808455_68808456del GRCh38
NC_000016.9:g.68842358_68842359del , CM000678.1:g.68842358_68842359del GRCh37
NC_000016.8:g.67399859_67399860del NCBI36
NG_008021.1:g.76164_76165del , LRG_301:g.76164_76165del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.419_420del MANE Select ENSP00000261769.4:p.Leu140HisfsTer27
ENST00000261769.9:c.419_420del ENSP00000261769.4:p.Leu140HisfsTer27
ENST00000422392.6:c.419_420del ENSP00000414946.2:p.Leu140HisfsTer27
ENST00000561751.1:c.186_187del
ENST00000562836.5:n.490_491del
ENST00000564676.5:n.701_702del
ENST00000564745.1:n.414_415del
ENST00000566510.5:c.419_420del ENSP00000458139.1:p.Leu140HisfsTer27
ENST00000566612.5:c.419_420del ENSP00000454782.1:p.Leu140HisfsTer27
ENST00000611625.4:c.419_420del ENSP00000481063.1:p.Leu140HisfsTer27
ENST00000612417.4:c.419_420del ENSP00000478360.1:p.Leu140HisfsTer27
ENST00000621016.4:c.419_420del ENSP00000480664.1:p.Leu140HisfsTer27
NM_004360.3:c.419_420del , LRG_301t1:c.419_420del NP_004351.1:p.Leu140HisfsTer27
XM_011523488.1:c.-317_-316del XP_011521790.1:n.-317_-316del
XM_011523489.1:c.-317_-316del XP_011521791.1:n.-317_-316del
NM_001317184.1:c.419_420del NP_001304113.1:p.Leu140HisfsTer27
NM_001317185.1:c.-1197_-1196del NP_001304114.1:n.-1197_-1196del
NM_001317186.1:c.-1401_-1400del NP_001304115.1:n.-1401_-1400del
NM_004360.4:c.419_420del NP_004351.1:p.Leu140HisfsTer27
NM_004360.5:c.419_420del MANE Select NP_004351.1:p.Leu140HisfsTer27
NM_001317184.2:c.419_420del NP_001304113.1:p.Leu140HisfsTer27
NM_001317185.2:c.-1197_-1196del NP_001304114.1:n.-1197_-1196del
NM_001317186.2:c.-1401_-1400del NP_001304115.1:n.-1401_-1400del