Canonical Allele Identifier: CA2580612859

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2502960
• ClinVar RCV Id: RCV003229694

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815660dup , CM000678.2:g.68815660dup	GRCh38
NC_000016.9:g.68849563dup , CM000678.1:g.68849563dup	GRCh37
NC_000016.8:g.67407064dup	NCBI36
NG_008021.1:g.83369dup , LRG_301:g.83369dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1466dup MANE Select	ENSP00000261769.4:p.Glu490Ter
ENST00000261769.9:c.1466dup	ENSP00000261769.4:p.Glu490Ter
ENST00000422392.6:c.1283dup	ENSP00000414946.2:p.Glu429Ter
ENST00000562836.5:n.1537dup
ENST00000566510.5:c.*132dup	ENSP00000458139.1:n.*132dup
ENST00000566612.5:c.1466dup	ENSP00000454782.1:p.Glu490Ter
ENST00000611625.4:c.1529dup	ENSP00000481063.1:p.Glu511Ter
ENST00000612417.4:c.1466dup	ENSP00000478360.1:p.Glu490Ter
ENST00000621016.4:c.1466dup	ENSP00000480664.1:p.Glu490Ter
NM_004360.3:c.1466dup , LRG_301t1:c.1466dup	NP_004351.1:p.Glu490Ter
XM_011523488.1:c.731dup	XP_011521790.1:p.Glu245Ter
XM_011523489.1:c.731dup	XP_011521791.1:p.Glu245Ter
NM_001317184.1:c.1283dup	NP_001304113.1:p.Glu429Ter
NM_001317185.1:c.-83dup	NP_001304114.1:n.-83dup
NM_001317186.1:c.-354dup	NP_001304115.1:n.-354dup
NM_004360.4:c.1466dup	NP_004351.1:p.Glu490Ter
NM_004360.5:c.1466dup MANE Select	NP_004351.1:p.Glu490Ter
NM_001317184.2:c.1283dup	NP_001304113.1:p.Glu429Ter
NM_001317185.2:c.-83dup	NP_001304114.1:n.-83dup
NM_001317186.2:c.-354dup	NP_001304115.1:n.-354dup