Canonical Allele Identifier: CA658658493

Gene: CDH1

Linked Data

• ClinVar Variation Id: 479514
• ClinVar RCV Id: RCV003328406 ; RCV003451214
• dbSNP Id: rs1555516567
• MyVariant Identifiers: chr16:g.68853296dup (hg19) ; chr16:g.68819393dup (hg38)
• ERepo: CA658658493/MONDO:0007648/007 ; CA658658493/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819393dup , CM000678.2:g.68819393dup	GRCh38
NC_000016.9:g.68853296dup , CM000678.1:g.68853296dup	GRCh37
NC_000016.8:g.67410797dup	NCBI36
NG_008021.1:g.87102dup , LRG_301:g.87102dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1679dup MANE Select	ENSP00000261769.4:p.Tyr561ValfsTer27
ENST00000261769.9:c.1679dup	ENSP00000261769.4:p.Tyr561ValfsTer27
ENST00000422392.6:c.1496dup	ENSP00000414946.2:p.Tyr500ValfsTer27
ENST00000562836.5:n.1750dup
ENST00000566510.5:c.*345dup	ENSP00000458139.1:n.*345dup
ENST00000566612.5:c.1566-2608dup	ENSP00000454782.1:n.1566-2608dup
ENST00000611625.4:c.1742dup	ENSP00000481063.1:p.Tyr582ValfsTer27
ENST00000612417.4:c.1679dup	ENSP00000478360.1:p.Tyr561ValfsTer27
ENST00000621016.4:c.1679dup	ENSP00000480664.1:p.Tyr561ValfsTer27
NM_004360.3:c.1679dup , LRG_301t1:c.1679dup	NP_004351.1:p.Tyr561ValfsTer27
XM_011523488.1:c.944dup	XP_011521790.1:p.Tyr316ValfsTer27
XM_011523489.1:c.944dup	XP_011521791.1:p.Tyr316ValfsTer27
NM_001317184.1:c.1496dup	NP_001304113.1:p.Tyr500ValfsTer27
NM_001317185.1:c.131dup	NP_001304114.1:p.Tyr45ValfsTer27
NM_001317186.1:c.-254-2608dup	NP_001304115.1:n.-254-2608dup
NM_004360.4:c.1679dup	NP_004351.1:p.Tyr561ValfsTer27
NM_004360.5:c.1679dup MANE Select	NP_004351.1:p.Tyr561ValfsTer27
NM_001317184.2:c.1496dup	NP_001304113.1:p.Tyr500ValfsTer27
NM_001317185.2:c.131dup	NP_001304114.1:p.Tyr45ValfsTer27
NM_001317186.2:c.-254-2608dup	NP_001304115.1:n.-254-2608dup