Canonical Allele Identifier: CA2580612866
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2502927
ClinVar RCV Id: RCV003229661

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810320_68810321delinsTTAAGGGATATA , CM000678.2:g.68810320_68810321delinsTTAAGGGATATA GRCh38
NC_000016.9:g.68844223_68844224delinsTTAAGGGATATA , CM000678.1:g.68844223_68844224delinsTTAAGGGATATA GRCh37
NC_000016.8:g.67401724_67401725delinsTTAAGGGATATA NCBI36
NG_008021.1:g.78029_78030delinsTTAAGGGATATA , LRG_301:g.78029_78030delinsTTAAGGGATATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.811_812delinsTTAAGGGATATA MANE Select ENSP00000261769.4:p.Val271LeufsTer25
ENST00000261769.9:c.811_812delinsTTAAGGGATATA ENSP00000261769.4:p.Val271LeufsTer25
ENST00000422392.6:c.811_812delinsTTAAGGGATATA ENSP00000414946.2:p.Val271LeufsTer25
ENST00000561751.1:c.455-1364_455-1363delinsTTAAGGGATATA
ENST00000562836.5:n.882_883delinsTTAAGGGATATA
ENST00000566510.5:c.655_656delinsTTAAGGGATATA ENSP00000458139.1:p.Val219LeufsTer25
ENST00000566612.5:c.811_812delinsTTAAGGGATATA ENSP00000454782.1:p.Val271LeufsTer25
ENST00000611625.4:c.811_812delinsTTAAGGGATATA ENSP00000481063.1:p.Val271LeufsTer25
ENST00000612417.4:c.811_812delinsTTAAGGGATATA ENSP00000478360.1:p.Val271LeufsTer25
ENST00000621016.4:c.811_812delinsTTAAGGGATATA ENSP00000480664.1:p.Val271LeufsTer25
NM_004360.3:c.811_812delinsTTAAGGGATATA , LRG_301t1:c.811_812delinsTTAAGGGATATA NP_004351.1:p.Val271LeufsTer25
XM_011523488.1:c.76_77delinsTTAAGGGATATA XP_011521790.1:p.Val26LeufsTer25
XM_011523489.1:c.76_77delinsTTAAGGGATATA XP_011521791.1:p.Val26LeufsTer25
NM_001317184.1:c.811_812delinsTTAAGGGATATA NP_001304113.1:p.Val271LeufsTer25
NM_001317185.1:c.-805_-804delinsTTAAGGGATATA NP_001304114.1:n.-805_-804delinsTTAAGGGATATA
NM_001317186.1:c.-1009_-1008delinsTTAAGGGATATA NP_001304115.1:n.-1009_-1008delinsTTAAGGGATATA
NM_004360.4:c.811_812delinsTTAAGGGATATA NP_004351.1:p.Val271LeufsTer25
NM_004360.5:c.811_812delinsTTAAGGGATATA MANE Select NP_004351.1:p.Val271LeufsTer25
NM_001317184.2:c.811_812delinsTTAAGGGATATA NP_001304113.1:p.Val271LeufsTer25
NM_001317185.2:c.-805_-804delinsTTAAGGGATATA NP_001304114.1:n.-805_-804delinsTTAAGGGATATA
NM_001317186.2:c.-1009_-1008delinsTTAAGGGATATA NP_001304115.1:n.-1009_-1008delinsTTAAGGGATATA