Canonical Allele Identifier: CA891843864

Gene: CDH1

Linked Data

• ClinVar Variation Id: 567085
• ClinVar RCV Id: RCV000687067 ; RCV001556232 ; RCV002388201 ; RCV003328455
• dbSNP Id: rs1567508939
• MyVariant Identifiers: chr16:g.68849557_68849558del (hg19) ; chr16:g.68815654_68815655del (hg38)
• ERepo: CA891843864/MONDO:0007648/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815654_68815655del , CM000678.2:g.68815654_68815655del	GRCh38
NC_000016.9:g.68849557_68849558del , CM000678.1:g.68849557_68849558del	GRCh37
NC_000016.8:g.67407058_67407059del	NCBI36
NG_008021.1:g.83363_83364del , LRG_301:g.83363_83364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1460_1461del MANE Select	ENSP00000261769.4:p.Val487AlafsTer3
ENST00000261769.9:c.1460_1461del	ENSP00000261769.4:p.Val487AlafsTer3
ENST00000422392.6:c.1277_1278del	ENSP00000414946.2:p.Val426AlafsTer3
ENST00000562836.5:n.1531_1532del
ENST00000566510.5:c.*126_*127del	ENSP00000458139.1:n.*126_*127del
ENST00000566612.5:c.1460_1461del	ENSP00000454782.1:p.Val487AlafsTer3
ENST00000611625.4:c.1523_1524del	ENSP00000481063.1:p.Val508AlafsTer3
ENST00000612417.4:c.1460_1461del	ENSP00000478360.1:p.Val487AlafsTer3
ENST00000621016.4:c.1460_1461del	ENSP00000480664.1:p.Val487AlafsTer3
NM_004360.3:c.1460_1461del , LRG_301t1:c.1460_1461del	NP_004351.1:p.Val487AlafsTer3
XM_011523488.1:c.725_726del	XP_011521790.1:p.Val242AlafsTer3
XM_011523489.1:c.725_726del	XP_011521791.1:p.Val242AlafsTer3
NM_001317184.1:c.1277_1278del	NP_001304113.1:p.Val426AlafsTer3
NM_001317185.1:c.-89_-88del	NP_001304114.1:n.-89_-88del
NM_001317186.1:c.-360_-359del	NP_001304115.1:n.-360_-359del
NM_004360.4:c.1460_1461del	NP_004351.1:p.Val487AlafsTer3
NM_004360.5:c.1460_1461del MANE Select	NP_004351.1:p.Val487AlafsTer3
NM_001317184.2:c.1277_1278del	NP_001304113.1:p.Val426AlafsTer3
NM_001317185.2:c.-89_-88del	NP_001304114.1:n.-89_-88del
NM_001317186.2:c.-360_-359del	NP_001304115.1:n.-360_-359del