Canonical Allele Identifier: CA2582342536

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2587425
• ClinVar RCV Id: RCV003350698

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823533dup , CM000678.2:g.68823533dup	GRCh38
NC_000016.9:g.68857436dup , CM000678.1:g.68857436dup	GRCh37
NC_000016.8:g.67414937dup	NCBI36
NG_008021.1:g.91242dup , LRG_301:g.91242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2071dup MANE Select	ENSP00000261769.4:p.Ala691GlyfsTer6
ENST00000261769.9:c.2071dup	ENSP00000261769.4:p.Ala691GlyfsTer6
ENST00000422392.6:c.1888dup	ENSP00000414946.2:p.Ala630GlyfsTer6
ENST00000562118.1:n.289dup
ENST00000562836.5:n.2142dup
ENST00000566510.5:c.*737dup	ENSP00000458139.1:n.*737dup
ENST00000566612.5:c.*311dup	ENSP00000454782.1:n.*311dup
ENST00000611625.4:c.2134dup	ENSP00000481063.1:p.Ala712GlyfsTer6
ENST00000612417.4:c.1830+1414dup	ENSP00000478360.1:n.1830+1414dup
ENST00000621016.4:c.1865+1379dup	ENSP00000480664.1:n.1865+1379dup
NM_004360.3:c.2071dup , LRG_301t1:c.2071dup	NP_004351.1:p.Ala691GlyfsTer6
XM_011523488.1:c.1336dup	XP_011521790.1:p.Ala446GlyfsTer6
XM_011523489.1:c.1336dup	XP_011521791.1:p.Ala446GlyfsTer6
NM_001317184.1:c.1888dup	NP_001304113.1:p.Ala630GlyfsTer6
NM_001317185.1:c.523dup	NP_001304114.1:p.Ala175GlyfsTer6
NM_001317186.1:c.106dup	NP_001304115.1:p.Ala36GlyfsTer6
NM_004360.4:c.2071dup	NP_004351.1:p.Ala691GlyfsTer6
NM_004360.5:c.2071dup MANE Select	NP_004351.1:p.Ala691GlyfsTer6
NM_001317184.2:c.1888dup	NP_001304113.1:p.Ala630GlyfsTer6
NM_001317185.2:c.523dup	NP_001304114.1:p.Ala175GlyfsTer6
NM_001317186.2:c.106dup	NP_001304115.1:p.Ala36GlyfsTer6