Canonical Allele Identifier: CA1139532475

Gene: CDH1

Linked Data

• ClinVar Variation Id: 981224
• ClinVar RCV Id: RCV003328479
• dbSNP Id: rs1961538047
• ERepo: CA1139532475/MONDO:0007648/007 ; CA1139532475/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833376del , CM000678.2:g.68833376del	GRCh38
NC_000016.9:g.68867279del , CM000678.1:g.68867279del	GRCh37
NC_000016.8:g.67424780del	NCBI36
NG_008021.1:g.101085del , LRG_301:g.101085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2526del MANE Select	ENSP00000261769.4:p.Ala843LeufsTer3
ENST00000261769.9:c.2526del	ENSP00000261769.4:p.Ala843LeufsTer3
ENST00000422392.6:c.2343del	ENSP00000414946.2:p.Ala782LeufsTer3
ENST00000562118.1:n.744del
ENST00000562836.5:n.2597del
ENST00000566510.5:c.*1192del	ENSP00000458139.1:n.*1192del
ENST00000566612.5:c.*766del	ENSP00000454782.1:n.*766del
ENST00000611625.4:c.2589del	ENSP00000481063.1:p.Ala864LeufsTer3
ENST00000612417.4:c.1854-815del	ENSP00000478360.1:n.1854-815del
ENST00000621016.4:c.1866-827del	ENSP00000480664.1:n.1866-827del
NM_004360.3:c.2526del , LRG_301t1:c.2526del	NP_004351.1:p.Ala843LeufsTer3
XM_011523488.1:c.1791del	XP_011521790.1:p.Ala598LeufsTer3
XM_011523489.1:c.1791del	XP_011521791.1:p.Ala598LeufsTer3
NM_001317184.1:c.2343del	NP_001304113.1:p.Ala782LeufsTer3
NM_001317185.1:c.978del	NP_001304114.1:p.Ala327LeufsTer3
NM_001317186.1:c.561del	NP_001304115.1:p.Ala188LeufsTer3
NM_004360.4:c.2526del	NP_004351.1:p.Ala843LeufsTer3
NM_004360.5:c.2526del MANE Select	NP_004351.1:p.Ala843LeufsTer3
NM_001317184.2:c.2343del	NP_001304113.1:p.Ala782LeufsTer3
NM_001317185.2:c.978del	NP_001304114.1:p.Ala327LeufsTer3
NM_001317186.2:c.561del	NP_001304115.1:p.Ala188LeufsTer3