Canonical Allele Identifier: CA2582342524

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2583337
• ClinVar RCV Id: RCV003337008

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819314dup , CM000678.2:g.68819314dup	GRCh38
NC_000016.9:g.68853217dup , CM000678.1:g.68853217dup	GRCh37
NC_000016.8:g.67410718dup	NCBI36
NG_008021.1:g.87023dup , LRG_301:g.87023dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1600dup MANE Select	ENSP00000261769.4:p.Glu534GlyfsTer3
ENST00000261769.9:c.1600dup	ENSP00000261769.4:p.Glu534GlyfsTer3
ENST00000422392.6:c.1417dup	ENSP00000414946.2:p.Glu473GlyfsTer3
ENST00000562836.5:n.1671dup
ENST00000566510.5:c.*266dup	ENSP00000458139.1:n.*266dup
ENST00000566612.5:c.1566-2687dup	ENSP00000454782.1:n.1566-2687dup
ENST00000611625.4:c.1663dup	ENSP00000481063.1:p.Glu555GlyfsTer3
ENST00000612417.4:c.1600dup	ENSP00000478360.1:p.Glu534GlyfsTer3
ENST00000621016.4:c.1600dup	ENSP00000480664.1:p.Glu534GlyfsTer3
NM_004360.3:c.1600dup , LRG_301t1:c.1600dup	NP_004351.1:p.Glu534GlyfsTer3
XM_011523488.1:c.865dup	XP_011521790.1:p.Glu289GlyfsTer3
XM_011523489.1:c.865dup	XP_011521791.1:p.Glu289GlyfsTer3
NM_001317184.1:c.1417dup	NP_001304113.1:p.Glu473GlyfsTer3
NM_001317185.1:c.52dup	NP_001304114.1:p.Glu18GlyfsTer3
NM_001317186.1:c.-254-2687dup	NP_001304115.1:n.-254-2687dup
NM_004360.4:c.1600dup	NP_004351.1:p.Glu534GlyfsTer3
NM_004360.5:c.1600dup MANE Select	NP_004351.1:p.Glu534GlyfsTer3
NM_001317184.2:c.1417dup	NP_001304113.1:p.Glu473GlyfsTer3
NM_001317185.2:c.52dup	NP_001304114.1:p.Glu18GlyfsTer3
NM_001317186.2:c.-254-2687dup	NP_001304115.1:n.-254-2687dup