Canonical Allele Identifier: CA2229916391

Gene: CDH1

Linked Data

• ClinVar Variation Id: 955870
• ClinVar RCV Id: RCV001228588
• dbSNP Id: rs1962455626

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68738300_68738301dup , CM000678.2:g.68738300_68738301dup	GRCh38
NC_000016.9:g.68772203_68772204dup , CM000678.1:g.68772203_68772204dup	GRCh37
NC_000016.8:g.67329704_67329705dup	NCBI36
NG_008021.1:g.6009_6010dup , LRG_301:g.6009_6010dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.52_53dup MANE Select	ENSP00000261769.4:p.Ser19ProfsTer?
ENST00000261769.9:c.52_53dup	ENSP00000261769.4:p.Ser19ProfsTer?
ENST00000422392.6:c.52_53dup	ENSP00000414946.2:p.Ser19ProfsTer?
ENST00000566510.5:c.52_53dup	ENSP00000458139.1:p.Ser19ProfsTer?
ENST00000566612.5:c.52_53dup	ENSP00000454782.1:p.Ser19ProfsTer?
ENST00000611625.4:c.52_53dup	ENSP00000481063.1:p.Ser19ProfsTer?
ENST00000612417.4:c.52_53dup	ENSP00000478360.1:p.Ser19ProfsTer?
ENST00000621016.4:c.52_53dup	ENSP00000480664.1:p.Ser19ProfsTer?
NM_004360.3:c.52_53dup , LRG_301t1:c.52_53dup	NP_004351.1:p.Ser19ProfsTer?
NM_001317184.1:c.52_53dup	NP_001304113.1:p.Ser19ProfsTer?
NM_001317185.1:c.-1564_-1563dup	NP_001304114.1:n.-1564_-1563dup
NM_001317186.1:c.-1768_-1767dup	NP_001304115.1:n.-1768_-1767dup
NM_004360.4:c.52_53dup	NP_004351.1:p.Ser19ProfsTer?
NM_004360.5:c.52_53dup MANE Select	NP_004351.1:p.Ser19ProfsTer?
NM_001317184.2:c.52_53dup	NP_001304113.1:p.Ser19ProfsTer?
NM_001317185.2:c.-1564_-1563dup	NP_001304114.1:n.-1564_-1563dup
NM_001317186.2:c.-1768_-1767dup	NP_001304115.1:n.-1768_-1767dup