Canonical Allele Identifier: CA2697555902

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2707479
• ClinVar RCV Id: RCV003512974

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822003dup , CM000678.2:g.68822003dup	GRCh38
NC_000016.9:g.68855906dup , CM000678.1:g.68855906dup	GRCh37
NC_000016.8:g.67413407dup	NCBI36
NG_008021.1:g.89712dup , LRG_301:g.89712dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1714dup MANE Select	ENSP00000261769.4:p.Ser572PhefsTer16
ENST00000261769.9:c.1714dup	ENSP00000261769.4:p.Ser572PhefsTer16
ENST00000422392.6:c.1531dup	ENSP00000414946.2:p.Ser511PhefsTer16
ENST00000562836.5:n.1785dup
ENST00000566510.5:c.*380dup	ENSP00000458139.1:n.*380dup
ENST00000566612.5:c.1568dup	ENSP00000454782.1:p.Ser524LeufsTer12
ENST00000611625.4:c.1777dup	ENSP00000481063.1:p.Ser593PhefsTer16
ENST00000612417.4:c.1714dup	ENSP00000478360.1:p.Ser572PhefsTer16
ENST00000621016.4:c.1714dup	ENSP00000480664.1:p.Ser572PhefsTer16
NM_004360.3:c.1714dup , LRG_301t1:c.1714dup	NP_004351.1:p.Ser572PhefsTer16
XM_011523488.1:c.979dup	XP_011521790.1:p.Ser327PhefsTer16
XM_011523489.1:c.979dup	XP_011521791.1:p.Ser327PhefsTer16
NM_001317184.1:c.1531dup	NP_001304113.1:p.Ser511PhefsTer16
NM_001317185.1:c.166dup	NP_001304114.1:p.Ser56PhefsTer16
NM_001317186.1:c.-252dup	NP_001304115.1:n.-252dup
NM_004360.4:c.1714dup	NP_004351.1:p.Ser572PhefsTer16
NM_004360.5:c.1714dup MANE Select	NP_004351.1:p.Ser572PhefsTer16
NM_001317184.2:c.1531dup	NP_001304113.1:p.Ser511PhefsTer16
NM_001317185.2:c.166dup	NP_001304114.1:p.Ser56PhefsTer16
NM_001317186.2:c.-252dup	NP_001304115.1:n.-252dup