Canonical Allele Identifier: CA127318

Gene: CDH3

Linked Data

• ClinVar Variation Id: 17641
• ClinVar RCV Id: RCV000019208 ; RCV000505148 ; RCV001851938 ; RCV002243655
• dbSNP Id: rs724159985
• gnomAD v4: 16-68679935-AG-A
• MyVariant Identifiers: chr16:g.68713840del (hg19) ; chr16:g.68713839del (hg19) ; chr16:g.68679937del (hg38) ; chr16:g.68679936del (hg38)
• PubMed: PMID:10420194 ; PMID:14708629 ; PMID:15805154 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68679937del , CM000678.2:g.68679937del	GRCh38
NC_000016.9:g.68713840del , CM000678.1:g.68713840del	GRCh37
NC_000016.8:g.67271341del	NCBI36
NG_009096.1:g.40690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264012.9:c.830del MANE Select	ENSP00000264012.4:p.Gly277AlafsTer20
ENST00000264012.8:c.830del	ENSP00000264012.4:p.Gly277AlafsTer20
ENST00000429102.6:c.830del	ENSP00000398485.2:p.Gly277AlafsTer20
ENST00000542274.5:c.*568del	ENSP00000464021.1:n.*568del
ENST00000569036.2:c.306del
NM_001793.4:c.830del	NP_001784.2:p.Gly277AlafsTer20
XM_011522800.1:c.830del	XP_011521102.1:p.Gly277AlafsTer20
NM_001317195.1:c.830del	NP_001304124.1:p.Gly277AlafsTer20
NM_001317196.1:c.665del	NP_001304125.1:p.Gly222AlafsTer20
NM_001793.5:c.830del	NP_001784.2:p.Gly277AlafsTer20
XM_011522800.3:c.830del	XP_011521102.1:p.Gly277AlafsTer20
NM_001793.6:c.830del MANE Select	NP_001784.2:p.Gly277AlafsTer20
NM_001317195.2:c.830del	NP_001304124.1:p.Gly277AlafsTer20
NM_001317196.2:c.665del	NP_001304125.1:p.Gly222AlafsTer20
NM_001317195.3:c.830del	NP_001304124.1:p.Gly277AlafsTer20