Canonical Allele Identifier: CA2582342527
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583720
ClinVar RCV Id: RCV003334642

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829655_68829665delinsTTGA , CM000678.2:g.68829655_68829665delinsTTGA GRCh38
NC_000016.9:g.68863558_68863568delinsTTGA , CM000678.1:g.68863558_68863568delinsTTGA GRCh37
NC_000016.8:g.67421059_67421069delinsTTGA NCBI36
NG_008021.1:g.97364_97374delinsTTGA , LRG_301:g.97364_97374delinsTTGA

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.2297_2307delinsTTGA MANE Select ENSP00000261769.4:p.Asp766ValfsTer15
ENST00000261769.9:c.2297_2307delinsTTGA ENSP00000261769.4:p.Asp766ValfsTer15
ENST00000422392.6:c.2114_2124delinsTTGA ENSP00000414946.2:p.Asp705ValfsTer15
ENST00000562118.1:n.515_525delinsTTGA
ENST00000562836.5:n.2368_2378delinsTTGA
ENST00000566510.5:c.*963_*973delinsTTGA ENSP00000458139.1:n.*963_*973delinsTTGA
ENST00000566612.5:c.*537_*547delinsTTGA ENSP00000454782.1:n.*537_*547delinsTTGA
ENST00000611625.4:c.2360_2370delinsTTGA ENSP00000481063.1:p.Asp787ValfsTer15
ENST00000612417.4:c.1853+3101_1853+3111delinsTTGA ENSP00000478360.1:n.1853+3101_1853+3111de...
ENST00000621016.4:c.1866-4548_1866-4538delinsTTGA ENSP00000480664.1:n.1866-4548_1866-4538de...
NM_004360.3:c.2297_2307delinsTTGA , LRG_301t1:c.2297_2307delinsTTGA NP_004351.1:p.Asp766ValfsTer15
XM_011523488.1:c.1562_1572delinsTTGA XP_011521790.1:p.Asp521ValfsTer15
XM_011523489.1:c.1562_1572delinsTTGA XP_011521791.1:p.Asp521ValfsTer15
NM_001317184.1:c.2114_2124delinsTTGA NP_001304113.1:p.Asp705ValfsTer15
NM_001317185.1:c.749_759delinsTTGA NP_001304114.1:p.Asp250ValfsTer15
NM_001317186.1:c.332_342delinsTTGA NP_001304115.1:p.Asp111ValfsTer15
NM_004360.4:c.2297_2307delinsTTGA NP_004351.1:p.Asp766ValfsTer15
NM_004360.5:c.2297_2307delinsTTGA MANE Select NP_004351.1:p.Asp766ValfsTer15
NM_001317184.2:c.2114_2124delinsTTGA NP_001304113.1:p.Asp705ValfsTer15
NM_001317185.2:c.749_759delinsTTGA NP_001304114.1:p.Asp250ValfsTer15
NM_001317186.2:c.332_342delinsTTGA NP_001304115.1:p.Asp111ValfsTer15