Canonical Allele Identifier: CA16620251

Gene: CDH1

Linked Data

• ClinVar Variation Id: 422539
• ClinVar RCV Id: RCV000478712 ; RCV000492449 ; RCV001260575
• dbSNP Id: rs1555516532
• MyVariant Identifiers: chr16:g.68853204dupT (hg19) ; chr16:g.68819301dupT (hg38)
• ERepo: CA16620251/MONDO:0007648/007 ; CA16620251/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819301dup , CM000678.2:g.68819301dup	GRCh38
NC_000016.9:g.68853204dup , CM000678.1:g.68853204dup	GRCh37
NC_000016.8:g.67410705dup	NCBI36
NG_008021.1:g.87010dup , LRG_301:g.87010dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1587dup MANE Select	ENSP00000261769.4:p.Ala530CysfsTer7
ENST00000261769.9:c.1587dup	ENSP00000261769.4:p.Ala530CysfsTer7
ENST00000422392.6:c.1404dup	ENSP00000414946.2:p.Ala469CysfsTer7
ENST00000562836.5:n.1658dup
ENST00000566510.5:c.*253dup	ENSP00000458139.1:n.*253dup
ENST00000566612.5:c.1566-2700dup	ENSP00000454782.1:n.1566-2700dup
ENST00000611625.4:c.1650dup	ENSP00000481063.1:p.Ala551CysfsTer7
ENST00000612417.4:c.1587dup	ENSP00000478360.1:p.Ala530CysfsTer7
ENST00000621016.4:c.1587dup	ENSP00000480664.1:p.Ala530CysfsTer7
NM_004360.3:c.1587dup , LRG_301t1:c.1587dup	NP_004351.1:p.Ala530CysfsTer7
XM_011523488.1:c.852dup	XP_011521790.1:p.Ala285CysfsTer7
XM_011523489.1:c.852dup	XP_011521791.1:p.Ala285CysfsTer7
NM_001317184.1:c.1404dup	NP_001304113.1:p.Ala469CysfsTer7
NM_001317185.1:c.39dup	NP_001304114.1:p.Ala14CysfsTer7
NM_001317186.1:c.-254-2700dup	NP_001304115.1:n.-254-2700dup
NM_004360.4:c.1587dup	NP_004351.1:p.Ala530CysfsTer7
NM_004360.5:c.1587dup MANE Select	NP_004351.1:p.Ala530CysfsTer7
NM_001317184.2:c.1404dup	NP_001304113.1:p.Ala469CysfsTer7
NM_001317185.2:c.39dup	NP_001304114.1:p.Ala14CysfsTer7
NM_001317186.2:c.-254-2700dup	NP_001304115.1:n.-254-2700dup