Canonical Allele Identifier: CA2229978207

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1585322
• ClinVar RCV Id: RCV002112483
• dbSNP Id: rs1961082342
• gnomAD v4: 16-68819434-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819436dup , CM000678.2:g.68819436dup	GRCh38
NC_000016.9:g.68853339dup , CM000678.1:g.68853339dup	GRCh37
NC_000016.8:g.67410840dup	NCBI36
NG_008021.1:g.87145dup , LRG_301:g.87145dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1711+11dup MANE Select	ENSP00000261769.4:n.1711+11dup
ENST00000261769.9:c.1711+11dup	ENSP00000261769.4:n.1711+11dup
ENST00000422392.6:c.1528+11dup	ENSP00000414946.2:n.1528+11dup
ENST00000562836.5:n.1782+11dup
ENST00000566510.5:c.*377+11dup	ENSP00000458139.1:n.*377+11dup
ENST00000566612.5:c.1566-2565dup	ENSP00000454782.1:n.1566-2565dup
ENST00000611625.4:c.1774+11dup	ENSP00000481063.1:n.1774+11dup
ENST00000612417.4:c.1711+11dup	ENSP00000478360.1:n.1711+11dup
ENST00000621016.4:c.1711+11dup	ENSP00000480664.1:n.1711+11dup
NM_004360.3:c.1711+11dup , LRG_301t1:c.1711+11dup	NP_004351.1:n.1711+11dup
XM_011523488.1:c.976+11dup	XP_011521790.1:n.976+11dup
XM_011523489.1:c.976+11dup	XP_011521791.1:n.976+11dup
NM_001317184.1:c.1528+11dup	NP_001304113.1:n.1528+11dup
NM_001317185.1:c.163+11dup	NP_001304114.1:n.163+11dup
NM_001317186.1:c.-254-2565dup	NP_001304115.1:n.-254-2565dup
NM_004360.4:c.1711+11dup	NP_004351.1:n.1711+11dup
NM_004360.5:c.1711+11dup MANE Select	NP_004351.1:n.1711+11dup
NM_001317184.2:c.1528+11dup	NP_001304113.1:n.1528+11dup
NM_001317185.2:c.163+11dup	NP_001304114.1:n.163+11dup
NM_001317186.2:c.-254-2565dup	NP_001304115.1:n.-254-2565dup