Canonical Allele Identifier: CA2580612877

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2502980
• ClinVar RCV Id: RCV003229714

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822084del , CM000678.2:g.68822084del	GRCh38
NC_000016.9:g.68855987del , CM000678.1:g.68855987del	GRCh37
NC_000016.8:g.67413488del	NCBI36
NG_008021.1:g.89793del , LRG_301:g.89793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1795del MANE Select	ENSP00000261769.4:p.Thr599LeufsTer14
ENST00000261769.9:c.1795del	ENSP00000261769.4:p.Thr599LeufsTer14
ENST00000422392.6:c.1612del	ENSP00000414946.2:p.Thr538LeufsTer14
ENST00000562836.5:n.1866del
ENST00000566510.5:c.*461del	ENSP00000458139.1:n.*461del
ENST00000566612.5:c.*35del	ENSP00000454782.1:n.*35del
ENST00000611625.4:c.1858del	ENSP00000481063.1:p.Thr620LeufsTer14
ENST00000612417.4:c.1795del	ENSP00000478360.1:p.Thr599LeufsTer?
ENST00000621016.4:c.1795del	ENSP00000480664.1:p.Thr599LeufsTer14
NM_004360.3:c.1795del , LRG_301t1:c.1795del	NP_004351.1:p.Thr599LeufsTer14
XM_011523488.1:c.1060del	XP_011521790.1:p.Thr354LeufsTer14
XM_011523489.1:c.1060del	XP_011521791.1:p.Thr354LeufsTer14
NM_001317184.1:c.1612del	NP_001304113.1:p.Thr538LeufsTer14
NM_001317185.1:c.247del	NP_001304114.1:p.Thr83LeufsTer14
NM_001317186.1:c.-171del	NP_001304115.1:n.-171del
NM_004360.4:c.1795del	NP_004351.1:p.Thr599LeufsTer14
NM_004360.5:c.1795del MANE Select	NP_004351.1:p.Thr599LeufsTer14
NM_001317184.2:c.1612del	NP_001304113.1:p.Thr538LeufsTer14
NM_001317185.2:c.247del	NP_001304114.1:p.Thr83LeufsTer14
NM_001317186.2:c.-171del	NP_001304115.1:n.-171del