Canonical Allele Identifier: CA2580091917

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2035948
• ClinVar RCV Id: RCV002894594

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808459_68808460dup , CM000678.2:g.68808459_68808460dup	GRCh38
NC_000016.9:g.68842362_68842363dup , CM000678.1:g.68842362_68842363dup	GRCh37
NC_000016.8:g.67399863_67399864dup	NCBI36
NG_008021.1:g.76168_76169dup , LRG_301:g.76168_76169dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.423_424dup MANE Select	ENSP00000261769.4:p.Phe142TyrfsTer?
ENST00000261769.9:c.423_424dup	ENSP00000261769.4:p.Phe142TyrfsTer?
ENST00000422392.6:c.423_424dup	ENSP00000414946.2:p.Phe142TyrfsTer?
ENST00000561751.1:c.190_191dup
ENST00000562836.5:n.494_495dup
ENST00000564676.5:n.705_706dup
ENST00000564745.1:n.418_419dup
ENST00000566510.5:c.423_424dup	ENSP00000458139.1:p.Phe142TyrfsTer?
ENST00000566612.5:c.423_424dup	ENSP00000454782.1:p.Phe142TyrfsTer?
ENST00000611625.4:c.423_424dup	ENSP00000481063.1:p.Phe142TyrfsTer?
ENST00000612417.4:c.423_424dup	ENSP00000478360.1:p.Phe142TyrfsTer?
ENST00000621016.4:c.423_424dup	ENSP00000480664.1:p.Phe142TyrfsTer?
NM_004360.3:c.423_424dup , LRG_301t1:c.423_424dup	NP_004351.1:p.Phe142TyrfsTer?
XM_011523488.1:c.-313_-312dup	XP_011521790.1:n.-313_-312dup
XM_011523489.1:c.-313_-312dup	XP_011521791.1:n.-313_-312dup
NM_001317184.1:c.423_424dup	NP_001304113.1:p.Phe142TyrfsTer?
NM_001317185.1:c.-1193_-1192dup	NP_001304114.1:n.-1193_-1192dup
NM_001317186.1:c.-1397_-1396dup	NP_001304115.1:n.-1397_-1396dup
NM_004360.4:c.423_424dup	NP_004351.1:p.Phe142TyrfsTer?
NM_004360.5:c.423_424dup MANE Select	NP_004351.1:p.Phe142TyrfsTer?
NM_001317184.2:c.423_424dup	NP_001304113.1:p.Phe142TyrfsTer?
NM_001317185.2:c.-1193_-1192dup	NP_001304114.1:n.-1193_-1192dup
NM_001317186.2:c.-1397_-1396dup	NP_001304115.1:n.-1397_-1396dup