Canonical Allele Identifier: CA2573152664

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1511597
• ClinVar RCV Id: RCV002016835
• dbSNP Id: rs2152144176

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833452_68833462del , CM000678.2:g.68833452_68833462del	GRCh38
NC_000016.9:g.68867355_68867365del , CM000678.1:g.68867355_68867365del	GRCh37
NC_000016.8:g.67424856_67424866del	NCBI36
NG_008021.1:g.101161_101171del , LRG_301:g.101161_101171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2602_2612del MANE Select	ENSP00000261769.4:p.Arg868AlafsTer3
ENST00000261769.9:c.2602_2612del	ENSP00000261769.4:p.Arg868AlafsTer3
ENST00000422392.6:c.2419_2429del	ENSP00000414946.2:p.Arg807AlafsTer3
ENST00000562118.1:n.820_830del
ENST00000562836.5:n.2673_2683del
ENST00000566510.5:c.*1268_*1278del	ENSP00000458139.1:n.*1268_*1278del
ENST00000566612.5:c.*842_*852del	ENSP00000454782.1:n.*842_*852del
ENST00000611625.4:c.2665_2675del	ENSP00000481063.1:p.Arg889AlafsTer3
ENST00000612417.4:c.1854-739_1854-729del	ENSP00000478360.1:n.1854-739_1854-729del
ENST00000621016.4:c.1866-751_1866-741del	ENSP00000480664.1:n.1866-751_1866-741del
NM_004360.3:c.2602_2612del , LRG_301t1:c.2602_2612del	NP_004351.1:p.Arg868AlafsTer3
XM_011523488.1:c.1867_1877del	XP_011521790.1:p.Arg623AlafsTer3
XM_011523489.1:c.1867_1877del	XP_011521791.1:p.Arg623AlafsTer3
NM_001317184.1:c.2419_2429del	NP_001304113.1:p.Arg807AlafsTer3
NM_001317185.1:c.1054_1064del	NP_001304114.1:p.Arg352AlafsTer3
NM_001317186.1:c.637_647del	NP_001304115.1:p.Arg213AlafsTer3
NM_004360.4:c.2602_2612del	NP_004351.1:p.Arg868AlafsTer3
NM_004360.5:c.2602_2612del MANE Select	NP_004351.1:p.Arg868AlafsTer3
NM_001317184.2:c.2419_2429del	NP_001304113.1:p.Arg807AlafsTer3
NM_001317185.2:c.1054_1064del	NP_001304114.1:p.Arg352AlafsTer3
NM_001317186.2:c.637_647del	NP_001304115.1:p.Arg213AlafsTer3