Canonical Allele Identifier: CA2580092039

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1789681
• ClinVar RCV Id: RCV002448177

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829687_68829699del , CM000678.2:g.68829687_68829699del	GRCh38
NC_000016.9:g.68863590_68863602del , CM000678.1:g.68863590_68863602del	GRCh37
NC_000016.8:g.67421091_67421103del	NCBI36
NG_008021.1:g.97396_97408del , LRG_301:g.97396_97408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2329_2341del MANE Select	ENSP00000261769.4:p.Asp777LysfsTer2
ENST00000261769.9:c.2329_2341del	ENSP00000261769.4:p.Asp777LysfsTer2
ENST00000422392.6:c.2146_2158del	ENSP00000414946.2:p.Asp716LysfsTer2
ENST00000562118.1:n.547_559del
ENST00000562836.5:n.2400_2412del
ENST00000566510.5:c.*995_*1007del	ENSP00000458139.1:n.*995_*1007del
ENST00000566612.5:c.*569_*581del	ENSP00000454782.1:n.*569_*581del
ENST00000611625.4:c.2392_2404del	ENSP00000481063.1:p.Asp798LysfsTer2
ENST00000612417.4:c.1853+3133_1853+3145del	ENSP00000478360.1:n.1853+3133_1853+3145de...
ENST00000621016.4:c.1866-4516_1866-4504del	ENSP00000480664.1:n.1866-4516_1866-4504de...
NM_004360.3:c.2329_2341del , LRG_301t1:c.2329_2341del	NP_004351.1:p.Asp777LysfsTer2
XM_011523488.1:c.1594_1606del	XP_011521790.1:p.Asp532LysfsTer2
XM_011523489.1:c.1594_1606del	XP_011521791.1:p.Asp532LysfsTer2
NM_001317184.1:c.2146_2158del	NP_001304113.1:p.Asp716LysfsTer2
NM_001317185.1:c.781_793del	NP_001304114.1:p.Asp261LysfsTer2
NM_001317186.1:c.364_376del	NP_001304115.1:p.Asp122LysfsTer2
NM_004360.4:c.2329_2341del	NP_004351.1:p.Asp777LysfsTer2
NM_004360.5:c.2329_2341del MANE Select	NP_004351.1:p.Asp777LysfsTer2
NM_001317184.2:c.2146_2158del	NP_001304113.1:p.Asp716LysfsTer2
NM_001317185.2:c.781_793del	NP_001304114.1:p.Asp261LysfsTer2
NM_001317186.2:c.364_376del	NP_001304115.1:p.Asp122LysfsTer2