Canonical Allele Identifier: CA2580092018

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2013203
• ClinVar RCV Id: RCV002834493

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819419_68819422del , CM000678.2:g.68819419_68819422del	GRCh38
NC_000016.9:g.68853322_68853325del , CM000678.1:g.68853322_68853325del	GRCh37
NC_000016.8:g.67410823_67410826del	NCBI36
NG_008021.1:g.87128_87131del , LRG_301:g.87128_87131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1705_1708del MANE Select	ENSP00000261769.4:p.Asp569MetfsTer14
ENST00000261769.9:c.1705_1708del	ENSP00000261769.4:p.Asp569MetfsTer14
ENST00000422392.6:c.1522_1525del	ENSP00000414946.2:p.Asp508MetfsTer14
ENST00000562836.5:n.1776_1779del
ENST00000566510.5:c.*371_*374del	ENSP00000458139.1:n.*371_*374del
ENST00000566612.5:c.1566-2582_1566-2579del	ENSP00000454782.1:n.1566-2582_1566-2579del
ENST00000611625.4:c.1768_1771del	ENSP00000481063.1:p.Asp590MetfsTer14
ENST00000612417.4:c.1705_1708del	ENSP00000478360.1:p.Asp569MetfsTer14
ENST00000621016.4:c.1705_1708del	ENSP00000480664.1:p.Asp569MetfsTer14
NM_004360.3:c.1705_1708del , LRG_301t1:c.1705_1708del	NP_004351.1:p.Asp569MetfsTer14
XM_011523488.1:c.970_973del	XP_011521790.1:p.Asp324MetfsTer14
XM_011523489.1:c.970_973del	XP_011521791.1:p.Asp324MetfsTer14
NM_001317184.1:c.1522_1525del	NP_001304113.1:p.Asp508MetfsTer14
NM_001317185.1:c.157_160del	NP_001304114.1:p.Asp53MetfsTer14
NM_001317186.1:c.-254-2582_-254-2579del	NP_001304115.1:n.-254-2582_-254-2579del
NM_004360.4:c.1705_1708del	NP_004351.1:p.Asp569MetfsTer14
NM_004360.5:c.1705_1708del MANE Select	NP_004351.1:p.Asp569MetfsTer14
NM_001317184.2:c.1522_1525del	NP_001304113.1:p.Asp508MetfsTer14
NM_001317185.2:c.157_160del	NP_001304114.1:p.Asp53MetfsTer14
NM_001317186.2:c.-254-2582_-254-2579del	NP_001304115.1:n.-254-2582_-254-2579del