Canonical Allele Identifier: CA2582342562

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2583847
• ClinVar RCV Id: RCV003334769

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808450_68808451dup , CM000678.2:g.68808450_68808451dup	GRCh38
NC_000016.9:g.68842353_68842354dup , CM000678.1:g.68842353_68842354dup	GRCh37
NC_000016.8:g.67399854_67399855dup	NCBI36
NG_008021.1:g.76159_76160dup , LRG_301:g.76159_76160dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.414_415dup MANE Select	ENSP00000261769.4:p.Leu139TyrfsTer?
ENST00000261769.9:c.414_415dup	ENSP00000261769.4:p.Leu139TyrfsTer?
ENST00000422392.6:c.414_415dup	ENSP00000414946.2:p.Leu139TyrfsTer?
ENST00000561751.1:c.181_182dup
ENST00000562836.5:n.485_486dup
ENST00000564676.5:n.696_697dup
ENST00000564745.1:n.409_410dup
ENST00000566510.5:c.414_415dup	ENSP00000458139.1:p.Leu139TyrfsTer?
ENST00000566612.5:c.414_415dup	ENSP00000454782.1:p.Leu139TyrfsTer?
ENST00000611625.4:c.414_415dup	ENSP00000481063.1:p.Leu139TyrfsTer?
ENST00000612417.4:c.414_415dup	ENSP00000478360.1:p.Leu139TyrfsTer?
ENST00000621016.4:c.414_415dup	ENSP00000480664.1:p.Leu139TyrfsTer?
NM_004360.3:c.414_415dup , LRG_301t1:c.414_415dup	NP_004351.1:p.Leu139TyrfsTer?
XM_011523488.1:c.-322_-321dup	XP_011521790.1:n.-322_-321dup
XM_011523489.1:c.-322_-321dup	XP_011521791.1:n.-322_-321dup
NM_001317184.1:c.414_415dup	NP_001304113.1:p.Leu139TyrfsTer?
NM_001317185.1:c.-1202_-1201dup	NP_001304114.1:n.-1202_-1201dup
NM_001317186.1:c.-1406_-1405dup	NP_001304115.1:n.-1406_-1405dup
NM_004360.4:c.414_415dup	NP_004351.1:p.Leu139TyrfsTer?
NM_004360.5:c.414_415dup MANE Select	NP_004351.1:p.Leu139TyrfsTer?
NM_001317184.2:c.414_415dup	NP_001304113.1:p.Leu139TyrfsTer?
NM_001317185.2:c.-1202_-1201dup	NP_001304114.1:n.-1202_-1201dup
NM_001317186.2:c.-1406_-1405dup	NP_001304115.1:n.-1406_-1405dup