Canonical Allele Identifier: CA658824990

Gene: CDH1

Linked Data

• ClinVar Variation Id: 548722
• ClinVar RCV Id: RCV000662427
• dbSNP Id: rs1555516065
• gnomAD v4: 16-68815493-CTTCA-C
• MyVariant Identifiers: chr16:g.68849399_68849402del (hg19) ; chr16:g.68815496_68815499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815496_68815499del , CM000678.2:g.68815496_68815499del	GRCh38
NC_000016.9:g.68849399_68849402del , CM000678.1:g.68849399_68849402del	GRCh37
NC_000016.8:g.67406900_67406903del	NCBI36
NG_008021.1:g.83205_83208del , LRG_301:g.83205_83208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1321-19_1321-16del MANE Select	ENSP00000261769.4:n.1321-19_1321-16del
ENST00000261769.9:c.1321-19_1321-16del	ENSP00000261769.4:n.1321-19_1321-16del
ENST00000422392.6:c.1138-19_1138-16del	ENSP00000414946.2:n.1138-19_1138-16del
ENST00000562836.5:n.1392-19_1392-16del
ENST00000566510.5:c.1232-19_1232-16del	ENSP00000458139.1:n.1232-19_1232-16del
ENST00000566612.5:c.1321-19_1321-16del	ENSP00000454782.1:n.1321-19_1321-16del
ENST00000611625.4:c.1384-19_1384-16del	ENSP00000481063.1:n.1384-19_1384-16del
ENST00000612417.4:c.1321-19_1321-16del	ENSP00000478360.1:n.1321-19_1321-16del
ENST00000621016.4:c.1321-19_1321-16del	ENSP00000480664.1:n.1321-19_1321-16del
NM_004360.3:c.1321-19_1321-16del , LRG_301t1:c.1321-19_1321-16del	NP_004351.1:n.1321-19_1321-16del
XM_011523488.1:c.586-19_586-16del	XP_011521790.1:n.586-19_586-16del
XM_011523489.1:c.586-19_586-16del	XP_011521791.1:n.586-19_586-16del
NM_001317184.1:c.1138-19_1138-16del	NP_001304113.1:n.1138-19_1138-16del
NM_001317185.1:c.-228-19_-228-16del	NP_001304114.1:n.-228-19_-228-16del
NM_001317186.1:c.-499-19_-499-16del	NP_001304115.1:n.-499-19_-499-16del
NM_004360.4:c.1321-19_1321-16del	NP_004351.1:n.1321-19_1321-16del
NM_004360.5:c.1321-19_1321-16del MANE Select	NP_004351.1:n.1321-19_1321-16del
NM_001317184.2:c.1138-19_1138-16del	NP_001304113.1:n.1138-19_1138-16del
NM_001317185.2:c.-228-19_-228-16del	NP_001304114.1:n.-228-19_-228-16del
NM_001317186.2:c.-499-19_-499-16del	NP_001304115.1:n.-499-19_-499-16del