Canonical Allele Identifier: CA916081832

Gene: CDH1

Linked Data

• ClinVar Variation Id: 838029
• ClinVar RCV Id: RCV001039492
• dbSNP Id: rs1961079421

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819400_68819401insCG , CM000678.2:g.68819400_68819401insCG	GRCh38
NC_000016.9:g.68853303_68853304insCG , CM000678.1:g.68853303_68853304insCG	GRCh37
NC_000016.8:g.67410804_67410805insCG	NCBI36
NG_008021.1:g.87109_87110insCG , LRG_301:g.87109_87110insCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1686_1687insCG MANE Select	ENSP00000261769.4:p.Ala563ArgfsTer3
ENST00000261769.9:c.1686_1687insCG	ENSP00000261769.4:p.Ala563ArgfsTer3
ENST00000422392.6:c.1503_1504insCG	ENSP00000414946.2:p.Ala502ArgfsTer3
ENST00000562836.5:n.1757_1758insCG
ENST00000566510.5:c.*352_*353insCG	ENSP00000458139.1:n.*352_*353insCG
ENST00000566612.5:c.1566-2601_1566-2600insCG	ENSP00000454782.1:n.1566-2601_1566-2600in...
ENST00000611625.4:c.1749_1750insCG	ENSP00000481063.1:p.Ala584ArgfsTer3
ENST00000612417.4:c.1686_1687insCG	ENSP00000478360.1:p.Ala563ArgfsTer3
ENST00000621016.4:c.1686_1687insCG	ENSP00000480664.1:p.Ala563ArgfsTer3
NM_004360.3:c.1686_1687insCG , LRG_301t1:c.1686_1687insCG	NP_004351.1:p.Ala563ArgfsTer3
XM_011523488.1:c.951_952insCG	XP_011521790.1:p.Ala318ArgfsTer3
XM_011523489.1:c.951_952insCG	XP_011521791.1:p.Ala318ArgfsTer3
NM_001317184.1:c.1503_1504insCG	NP_001304113.1:p.Ala502ArgfsTer3
NM_001317185.1:c.138_139insCG	NP_001304114.1:p.Ala47ArgfsTer3
NM_001317186.1:c.-254-2601_-254-2600insCG	NP_001304115.1:n.-254-2601_-254-2600insCG...
NM_004360.4:c.1686_1687insCG	NP_004351.1:p.Ala563ArgfsTer3
NM_004360.5:c.1686_1687insCG MANE Select	NP_004351.1:p.Ala563ArgfsTer3
NM_001317184.2:c.1503_1504insCG	NP_001304113.1:p.Ala502ArgfsTer3
NM_001317185.2:c.138_139insCG	NP_001304114.1:p.Ala47ArgfsTer3
NM_001317186.2:c.-254-2601_-254-2600insCG	NP_001304115.1:n.-254-2601_-254-2600insCG...