Canonical Allele Identifier: CA645580182

Gene: CDH1

Linked Data

• ClinVar Variation Id: 545756
• ClinVar RCV Id: RCV003328451
• dbSNP Id: rs1555516821
• COSMIC: COSM25267
• MyVariant Identifiers: chr16:g.68855925dup (hg19) ; chr16:g.68822022dup (hg38)
• ERepo: CA645580182/MONDO:0007648/007 ; CA645580182/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822022dup , CM000678.2:g.68822022dup	GRCh38
NC_000016.9:g.68855925dup , CM000678.1:g.68855925dup	GRCh37
NC_000016.8:g.67413426dup	NCBI36
NG_008021.1:g.89731dup , LRG_301:g.89731dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1733dup MANE Select	ENSP00000261769.4:p.Gly579ArgfsTer9
ENST00000261769.9:c.1733dup	ENSP00000261769.4:p.Gly579ArgfsTer9
ENST00000422392.6:c.1550dup	ENSP00000414946.2:p.Gly518ArgfsTer9
ENST00000562836.5:n.1804dup
ENST00000566510.5:c.*399dup	ENSP00000458139.1:n.*399dup
ENST00000566612.5:c.1587dup	ENSP00000454782.1:p.Arg530GlnfsTer6
ENST00000611625.4:c.1796dup	ENSP00000481063.1:p.Gly600ArgfsTer9
ENST00000612417.4:c.1733dup	ENSP00000478360.1:p.Gly579ArgfsTer9
ENST00000621016.4:c.1733dup	ENSP00000480664.1:p.Gly579ArgfsTer9
NM_004360.3:c.1733dup , LRG_301t1:c.1733dup	NP_004351.1:p.Gly579ArgfsTer9
XM_011523488.1:c.998dup	XP_011521790.1:p.Gly334ArgfsTer9
XM_011523489.1:c.998dup	XP_011521791.1:p.Gly334ArgfsTer9
NM_001317184.1:c.1550dup	NP_001304113.1:p.Gly518ArgfsTer9
NM_001317185.1:c.185dup	NP_001304114.1:p.Gly63ArgfsTer9
NM_001317186.1:c.-233dup	NP_001304115.1:n.-233dup
NM_004360.4:c.1733dup	NP_004351.1:p.Gly579ArgfsTer9
NM_004360.5:c.1733dup MANE Select	NP_004351.1:p.Gly579ArgfsTer9
NM_001317184.2:c.1550dup	NP_001304113.1:p.Gly518ArgfsTer9
NM_001317185.2:c.185dup	NP_001304114.1:p.Gly63ArgfsTer9
NM_001317186.2:c.-233dup	NP_001304115.1:n.-233dup