Canonical Allele Identifier: CA2695197673

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2674580
• ClinVar RCV Id: RCV003454369

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815534_68815540del , CM000678.2:g.68815534_68815540del	GRCh38
NC_000016.9:g.68849437_68849443del , CM000678.1:g.68849437_68849443del	GRCh37
NC_000016.8:g.67406938_67406944del	NCBI36
NG_008021.1:g.83243_83249del , LRG_301:g.83243_83249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1340_1346del MANE Select	ENSP00000261769.4:p.Lys447SerfsTer6
ENST00000261769.9:c.1340_1346del	ENSP00000261769.4:p.Lys447SerfsTer6
ENST00000422392.6:c.1157_1163del	ENSP00000414946.2:p.Lys386SerfsTer6
ENST00000562836.5:n.1411_1417del
ENST00000566510.5:c.*6_*12del	ENSP00000458139.1:n.*6_*12del
ENST00000566612.5:c.1340_1346del	ENSP00000454782.1:p.Lys447SerfsTer6
ENST00000611625.4:c.1403_1409del	ENSP00000481063.1:p.Lys468SerfsTer6
ENST00000612417.4:c.1340_1346del	ENSP00000478360.1:p.Lys447SerfsTer6
ENST00000621016.4:c.1340_1346del	ENSP00000480664.1:p.Lys447SerfsTer6
NM_004360.3:c.1340_1346del , LRG_301t1:c.1340_1346del	NP_004351.1:p.Lys447SerfsTer6
XM_011523488.1:c.605_611del	XP_011521790.1:p.Lys202SerfsTer6
XM_011523489.1:c.605_611del	XP_011521791.1:p.Lys202SerfsTer6
NM_001317184.1:c.1157_1163del	NP_001304113.1:p.Lys386SerfsTer6
NM_001317185.1:c.-209_-203del	NP_001304114.1:n.-209_-203del
NM_001317186.1:c.-480_-474del	NP_001304115.1:n.-480_-474del
NM_004360.4:c.1340_1346del	NP_004351.1:p.Lys447SerfsTer6
NM_004360.5:c.1340_1346del MANE Select	NP_004351.1:p.Lys447SerfsTer6
NM_001317184.2:c.1157_1163del	NP_001304113.1:p.Lys386SerfsTer6
NM_001317185.2:c.-209_-203del	NP_001304114.1:n.-209_-203del
NM_001317186.2:c.-480_-474del	NP_001304115.1:n.-480_-474del