Canonical Allele Identifier: CA658658491

Gene: CDH1

Linked Data

• ClinVar Variation Id: 449339
• ClinVar RCV Id: RCV000520434 ; RCV001260576 ; RCV003328390 ; RCV003464107
• dbSNP Id: rs1555516535
• MyVariant Identifiers: chr16:g.68853207dup (hg19) ; chr16:g.68819304dup (hg38)
• ERepo: CA658658491/MONDO:0007648/007 ; CA658658491/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819304dup , CM000678.2:g.68819304dup	GRCh38
NC_000016.9:g.68853207dup , CM000678.1:g.68853207dup	GRCh37
NC_000016.8:g.67410708dup	NCBI36
NG_008021.1:g.87013dup , LRG_301:g.87013dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1590dup MANE Select	ENSP00000261769.4:p.Asn531GlnfsTer6
ENST00000261769.9:c.1590dup	ENSP00000261769.4:p.Asn531GlnfsTer6
ENST00000422392.6:c.1407dup	ENSP00000414946.2:p.Asn470GlnfsTer6
ENST00000562836.5:n.1661dup
ENST00000566510.5:c.*256dup	ENSP00000458139.1:n.*256dup
ENST00000566612.5:c.1566-2697dup	ENSP00000454782.1:n.1566-2697dup
ENST00000611625.4:c.1653dup	ENSP00000481063.1:p.Asn552GlnfsTer6
ENST00000612417.4:c.1590dup	ENSP00000478360.1:p.Asn531GlnfsTer6
ENST00000621016.4:c.1590dup	ENSP00000480664.1:p.Asn531GlnfsTer6
NM_004360.3:c.1590dup , LRG_301t1:c.1590dup	NP_004351.1:p.Asn531GlnfsTer6
XM_011523488.1:c.855dup	XP_011521790.1:p.Asn286GlnfsTer6
XM_011523489.1:c.855dup	XP_011521791.1:p.Asn286GlnfsTer6
NM_001317184.1:c.1407dup	NP_001304113.1:p.Asn470GlnfsTer6
NM_001317185.1:c.42dup	NP_001304114.1:p.Asn15GlnfsTer6
NM_001317186.1:c.-254-2697dup	NP_001304115.1:n.-254-2697dup
NM_004360.4:c.1590dup	NP_004351.1:p.Asn531GlnfsTer6
NM_004360.5:c.1590dup MANE Select	NP_004351.1:p.Asn531GlnfsTer6
NM_001317184.2:c.1407dup	NP_001304113.1:p.Asn470GlnfsTer6
NM_001317185.2:c.42dup	NP_001304114.1:p.Asn15GlnfsTer6
NM_001317186.2:c.-254-2697dup	NP_001304115.1:n.-254-2697dup