Canonical Allele Identifier: CA658658488

Gene: CDH1

Linked Data

• ClinVar Variation Id: 483271
• ClinVar RCV Id: RCV003328420
• dbSNP Id: rs1555516111
• MyVariant Identifiers: chr16:g.68849487del (hg19) ; chr16:g.68815584del (hg38)
• ERepo: CA658658488/MONDO:0007648/007 ; CA658658488/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815584del , CM000678.2:g.68815584del	GRCh38
NC_000016.9:g.68849487del , CM000678.1:g.68849487del	GRCh37
NC_000016.8:g.67406988del	NCBI36
NG_008021.1:g.83293del , LRG_301:g.83293del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1390del MANE Select	ENSP00000261769.4:p.Val464SerfsTer17
ENST00000261769.9:c.1390del	ENSP00000261769.4:p.Val464SerfsTer17
ENST00000422392.6:c.1207del	ENSP00000414946.2:p.Val403SerfsTer17
ENST00000562836.5:n.1461del
ENST00000566510.5:c.*56del	ENSP00000458139.1:n.*56del
ENST00000566612.5:c.1390del	ENSP00000454782.1:p.Val464SerfsTer17
ENST00000611625.4:c.1453del	ENSP00000481063.1:p.Val485SerfsTer17
ENST00000612417.4:c.1390del	ENSP00000478360.1:p.Val464SerfsTer17
ENST00000621016.4:c.1390del	ENSP00000480664.1:p.Val464SerfsTer17
NM_004360.3:c.1390del , LRG_301t1:c.1390del	NP_004351.1:p.Val464SerfsTer17
XM_011523488.1:c.655del	XP_011521790.1:p.Val219SerfsTer17
XM_011523489.1:c.655del	XP_011521791.1:p.Val219SerfsTer17
NM_001317184.1:c.1207del	NP_001304113.1:p.Val403SerfsTer17
NM_001317185.1:c.-159del	NP_001304114.1:n.-159del
NM_001317186.1:c.-430del	NP_001304115.1:n.-430del
NM_004360.4:c.1390del	NP_004351.1:p.Val464SerfsTer17
NM_004360.5:c.1390del MANE Select	NP_004351.1:p.Val464SerfsTer17
NM_001317184.2:c.1207del	NP_001304113.1:p.Val403SerfsTer17
NM_001317185.2:c.-159del	NP_001304114.1:n.-159del
NM_001317186.2:c.-430del	NP_001304115.1:n.-430del