Canonical Allele Identifier: CA915949332

Gene: CDH1

Linked Data

• ClinVar Variation Id: 639333
• ClinVar RCV Id: RCV000792103
• dbSNP Id: rs1596976114

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833294del , CM000678.2:g.68833294del	GRCh38
NC_000016.9:g.68867197del , CM000678.1:g.68867197del	GRCh37
NC_000016.8:g.67424698del	NCBI36
NG_008021.1:g.101003del , LRG_301:g.101003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2444del MANE Select	ENSP00000261769.4:p.Leu815ArgfsTer?
ENST00000261769.9:c.2444del	ENSP00000261769.4:p.Leu815ArgfsTer?
ENST00000422392.6:c.2261del	ENSP00000414946.2:p.Leu754ArgfsTer?
ENST00000562118.1:n.662del
ENST00000562836.5:n.2515del
ENST00000566510.5:c.*1110del	ENSP00000458139.1:n.*1110del
ENST00000566612.5:c.*684del	ENSP00000454782.1:n.*684del
ENST00000611625.4:c.2507del	ENSP00000481063.1:p.Leu836ArgfsTer?
ENST00000612417.4:c.1854-897del	ENSP00000478360.1:n.1854-897del
ENST00000621016.4:c.1866-909del	ENSP00000480664.1:n.1866-909del
NM_004360.3:c.2444del , LRG_301t1:c.2444del	NP_004351.1:p.Leu815ArgfsTer?
XM_011523488.1:c.1709del	XP_011521790.1:p.Leu570ArgfsTer?
XM_011523489.1:c.1709del	XP_011521791.1:p.Leu570ArgfsTer?
NM_001317184.1:c.2261del	NP_001304113.1:p.Leu754ArgfsTer?
NM_001317185.1:c.896del	NP_001304114.1:p.Leu299ArgfsTer?
NM_001317186.1:c.479del	NP_001304115.1:p.Leu160ArgfsTer?
NM_004360.4:c.2444del	NP_004351.1:p.Leu815ArgfsTer?
NM_004360.5:c.2444del MANE Select	NP_004351.1:p.Leu815ArgfsTer?
NM_001317184.2:c.2261del	NP_001304113.1:p.Leu754ArgfsTer?
NM_001317185.2:c.896del	NP_001304114.1:p.Leu299ArgfsTer?
NM_001317186.2:c.479del	NP_001304115.1:p.Leu160ArgfsTer?