Canonical Allele Identifier: CA645580194

Gene: CDH1

Linked Data

• ClinVar Variation Id: 998133
• ClinVar RCV Id: RCV001293820
• dbSNP Id: rs1961224452
• COSMIC: COSM5547168

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823417del , CM000678.2:g.68823417del	GRCh38
NC_000016.9:g.68857320del , CM000678.1:g.68857320del	GRCh37
NC_000016.8:g.67414821del	NCBI36
NG_008021.1:g.91126del , LRG_301:g.91126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1955del MANE Select	ENSP00000261769.4:p.Leu652Ter
ENST00000261769.9:c.1955del	ENSP00000261769.4:p.Leu652Ter
ENST00000422392.6:c.1772del	ENSP00000414946.2:p.Leu591Ter
ENST00000562118.1:n.173del
ENST00000562836.5:n.2026del
ENST00000566510.5:c.*621del	ENSP00000458139.1:n.*621del
ENST00000566612.5:c.*195del	ENSP00000454782.1:n.*195del
ENST00000611625.4:c.2018del	ENSP00000481063.1:p.Leu673Ter
ENST00000612417.4:c.1830+1298del	ENSP00000478360.1:n.1830+1298del
ENST00000621016.4:c.1865+1263del	ENSP00000480664.1:n.1865+1263del
NM_004360.3:c.1955del , LRG_301t1:c.1955del	NP_004351.1:p.Leu652Ter
XM_011523488.1:c.1220del	XP_011521790.1:p.Leu407Ter
XM_011523489.1:c.1220del	XP_011521791.1:p.Leu407Ter
NM_001317184.1:c.1772del	NP_001304113.1:p.Leu591Ter
NM_001317185.1:c.407del	NP_001304114.1:p.Leu136Ter
NM_001317186.1:c.-11del	NP_001304115.1:n.-11del
NM_004360.4:c.1955del	NP_004351.1:p.Leu652Ter
NM_004360.5:c.1955del MANE Select	NP_004351.1:p.Leu652Ter
NM_001317184.2:c.1772del	NP_001304113.1:p.Leu591Ter
NM_001317185.2:c.407del	NP_001304114.1:p.Leu136Ter
NM_001317186.2:c.-11del	NP_001304115.1:n.-11del