Canonical Allele Identifier: CA2580612820
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567618
ClinVar RCV Id: RCV003311331

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801688_68801689delinsGTG , CM000678.2:g.68801688_68801689delinsGTG GRCh38
NC_000016.9:g.68835591_68835592delinsGTG , CM000678.1:g.68835591_68835592delinsGTG GRCh37
NC_000016.8:g.67393092_67393093delinsGTG NCBI36
NG_008021.1:g.69397_69398delinsGTG , LRG_301:g.69397_69398delinsGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.182_183delinsGTG MANE Select ENSP00000261769.4:p.Thr61SerfsTer?
ENST00000261769.9:c.182_183delinsGTG ENSP00000261769.4:p.Thr61SerfsTer?
ENST00000422392.6:c.182_183delinsGTG ENSP00000414946.2:p.Thr61SerfsTer?
ENST00000562836.5:n.253_254delinsGTG
ENST00000564676.5:n.464_465delinsGTG
ENST00000564745.1:n.177_178delinsGTG
ENST00000566510.5:c.182_183delinsGTG ENSP00000458139.1:p.Thr61SerfsTer?
ENST00000566612.5:c.182_183delinsGTG ENSP00000454782.1:p.Thr61SerfsTer?
ENST00000611625.4:c.182_183delinsGTG ENSP00000481063.1:p.Thr61SerfsTer?
ENST00000612417.4:c.182_183delinsGTG ENSP00000478360.1:p.Thr61SerfsTer?
ENST00000621016.4:c.182_183delinsGTG ENSP00000480664.1:p.Thr61SerfsTer?
NM_004360.3:c.182_183delinsGTG , LRG_301t1:c.182_183delinsGTG NP_004351.1:p.Thr61SerfsTer?
XM_011523488.1:c.-554_-553delinsGTG XP_011521790.1:n.-554_-553delinsGTG
XM_011523489.1:c.-554_-553delinsGTG XP_011521791.1:n.-554_-553delinsGTG
NM_001317184.1:c.182_183delinsGTG NP_001304113.1:p.Thr61SerfsTer?
NM_001317185.1:c.-1434_-1433delinsGTG NP_001304114.1:n.-1434_-1433delinsGTG
NM_001317186.1:c.-1638_-1637delinsGTG NP_001304115.1:n.-1638_-1637delinsGTG
NM_004360.4:c.182_183delinsGTG NP_004351.1:p.Thr61SerfsTer?
NM_004360.5:c.182_183delinsGTG MANE Select NP_004351.1:p.Thr61SerfsTer?
NM_001317184.2:c.182_183delinsGTG NP_001304113.1:p.Thr61SerfsTer?
NM_001317185.2:c.-1434_-1433delinsGTG NP_001304114.1:n.-1434_-1433delinsGTG
NM_001317186.2:c.-1638_-1637delinsGTG NP_001304115.1:n.-1638_-1637delinsGTG