Canonical Allele Identifier: CA496152703

Gene: CDH1

Linked Data

• ClinVar Variation Id: 818202
• ClinVar RCV Id: RCV001009607
• dbSNP Id: rs878854690
• COSMIC: COSM19819 ; COSM1684458
• MyVariant Identifiers: chr16:g.68835769del (hg19) ; chr16:g.68835766del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801866del , CM000678.2:g.68801866del	GRCh38
NC_000016.9:g.68835769del , CM000678.1:g.68835769del	GRCh37
NC_000016.8:g.67393270del	NCBI36
NG_008021.1:g.69575del , LRG_301:g.69575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.360del MANE Select	ENSP00000261769.4:p.His121ThrfsTer?
ENST00000261769.9:c.360del	ENSP00000261769.4:p.His121ThrfsTer?
ENST00000422392.6:c.360del	ENSP00000414946.2:p.His121ThrfsTer?
ENST00000561751.1:c.127del
ENST00000562836.5:n.431del
ENST00000564676.5:n.642del
ENST00000564745.1:n.355del
ENST00000566510.5:c.360del	ENSP00000458139.1:p.His121ThrfsTer?
ENST00000566612.5:c.360del	ENSP00000454782.1:p.His121ThrfsTer?
ENST00000611625.4:c.360del	ENSP00000481063.1:p.His121ThrfsTer?
ENST00000612417.4:c.360del	ENSP00000478360.1:p.His121ThrfsTer?
ENST00000621016.4:c.360del	ENSP00000480664.1:p.His121ThrfsTer?
NM_004360.3:c.360del , LRG_301t1:c.360del	NP_004351.1:p.His121ThrfsTer?
XM_011523488.1:c.-376del	XP_011521790.1:n.-376del
XM_011523489.1:c.-376del	XP_011521791.1:n.-376del
NM_001317184.1:c.360del	NP_001304113.1:p.His121ThrfsTer?
NM_001317185.1:c.-1256del	NP_001304114.1:n.-1256del
NM_001317186.1:c.-1460del	NP_001304115.1:n.-1460del
NM_004360.4:c.360del	NP_004351.1:p.His121ThrfsTer?
NM_004360.5:c.360del MANE Select	NP_004351.1:p.His121ThrfsTer?
NM_001317184.2:c.360del	NP_001304113.1:p.His121ThrfsTer?
NM_001317185.2:c.-1256del	NP_001304114.1:n.-1256del
NM_001317186.2:c.-1460del	NP_001304115.1:n.-1460del