Canonical Allele Identifier: CA915949334

Gene: CDH1

Linked Data

• ClinVar Variation Id: 821333
• ClinVar RCV Id: RCV001015647 ; RCV003336241
• dbSNP Id: rs1596976243

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833330dup , CM000678.2:g.68833330dup	GRCh38
NC_000016.9:g.68867233dup , CM000678.1:g.68867233dup	GRCh37
NC_000016.8:g.67424734dup	NCBI36
NG_008021.1:g.101039dup , LRG_301:g.101039dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2480dup MANE Select	ENSP00000261769.4:p.Tyr827Ter
ENST00000261769.9:c.2480dup	ENSP00000261769.4:p.Tyr827Ter
ENST00000422392.6:c.2297dup	ENSP00000414946.2:p.Tyr766Ter
ENST00000562118.1:n.698dup
ENST00000562836.5:n.2551dup
ENST00000566510.5:c.*1146dup	ENSP00000458139.1:n.*1146dup
ENST00000566612.5:c.*720dup	ENSP00000454782.1:n.*720dup
ENST00000611625.4:c.2543dup	ENSP00000481063.1:p.Tyr848Ter
ENST00000612417.4:c.1854-861dup	ENSP00000478360.1:n.1854-861dup
ENST00000621016.4:c.1866-873dup	ENSP00000480664.1:n.1866-873dup
NM_004360.3:c.2480dup , LRG_301t1:c.2480dup	NP_004351.1:p.Tyr827Ter
XM_011523488.1:c.1745dup	XP_011521790.1:p.Tyr582Ter
XM_011523489.1:c.1745dup	XP_011521791.1:p.Tyr582Ter
NM_001317184.1:c.2297dup	NP_001304113.1:p.Tyr766Ter
NM_001317185.1:c.932dup	NP_001304114.1:p.Tyr311Ter
NM_001317186.1:c.515dup	NP_001304115.1:p.Tyr172Ter
NM_004360.4:c.2480dup	NP_004351.1:p.Tyr827Ter
NM_004360.5:c.2480dup MANE Select	NP_004351.1:p.Tyr827Ter
NM_001317184.2:c.2297dup	NP_001304113.1:p.Tyr766Ter
NM_001317185.2:c.932dup	NP_001304114.1:p.Tyr311Ter
NM_001317186.2:c.515dup	NP_001304115.1:p.Tyr172Ter