Canonical Allele Identifier: CA915949323

Gene: CDH1

Linked Data

• ClinVar Variation Id: 662412
• ClinVar RCV Id: RCV000820046
• dbSNP Id: rs1596965628

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823444del , CM000678.2:g.68823444del	GRCh38
NC_000016.9:g.68857347del , CM000678.1:g.68857347del	GRCh37
NC_000016.8:g.67414848del	NCBI36
NG_008021.1:g.91153del , LRG_301:g.91153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1982del MANE Select	ENSP00000261769.4:p.Gly661ValfsTer18
ENST00000261769.9:c.1982del	ENSP00000261769.4:p.Gly661ValfsTer18
ENST00000422392.6:c.1799del	ENSP00000414946.2:p.Gly600ValfsTer18
ENST00000562118.1:n.200del
ENST00000562836.5:n.2053del
ENST00000566510.5:c.*648del	ENSP00000458139.1:n.*648del
ENST00000566612.5:c.*222del	ENSP00000454782.1:n.*222del
ENST00000611625.4:c.2045del	ENSP00000481063.1:p.Gly682ValfsTer18
ENST00000612417.4:c.1830+1325del	ENSP00000478360.1:n.1830+1325del
ENST00000621016.4:c.1865+1290del	ENSP00000480664.1:n.1865+1290del
NM_004360.3:c.1982del , LRG_301t1:c.1982del	NP_004351.1:p.Gly661ValfsTer18
XM_011523488.1:c.1247del	XP_011521790.1:p.Gly416ValfsTer18
XM_011523489.1:c.1247del	XP_011521791.1:p.Gly416ValfsTer18
NM_001317184.1:c.1799del	NP_001304113.1:p.Gly600ValfsTer18
NM_001317185.1:c.434del	NP_001304114.1:p.Gly145ValfsTer18
NM_001317186.1:c.17del	NP_001304115.1:p.Gly6ValfsTer18
NM_004360.4:c.1982del	NP_004351.1:p.Gly661ValfsTer18
NM_004360.5:c.1982del MANE Select	NP_004351.1:p.Gly661ValfsTer18
NM_001317184.2:c.1799del	NP_001304113.1:p.Gly600ValfsTer18
NM_001317185.2:c.434del	NP_001304114.1:p.Gly145ValfsTer18
NM_001317186.2:c.17del	NP_001304115.1:p.Gly6ValfsTer18