Canonical Allele Identifier: CA2573054266

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1332011
• ClinVar RCV Id: RCV001804527
• dbSNP Id: rs2152139518

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823538_68823540delinsCGA , CM000678.2:g.68823538_68823540delinsCGA	GRCh38
NC_000016.9:g.68857441_68857443delinsCGA , CM000678.1:g.68857441_68857443delinsCGA	GRCh37
NC_000016.8:g.67414942_67414944delinsCGA	NCBI36
NG_008021.1:g.91247_91249delinsCGA , LRG_301:g.91247_91249delinsCGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2076_2078delinsCGA MANE Select	ENSP00000261769.4:p.Gly693Asp
ENST00000261769.9:c.2076_2078delinsCGA	ENSP00000261769.4:p.Gly693Asp
ENST00000422392.6:c.1893_1895delinsCGA	ENSP00000414946.2:p.Gly632Asp
ENST00000562118.1:n.294_296delinsCGA
ENST00000562836.5:n.2147_2149delinsCGA
ENST00000566510.5:c.*742_*744delinsCGA	ENSP00000458139.1:n.*742_*744delinsCGA
ENST00000566612.5:c.*316_*318delinsCGA	ENSP00000454782.1:n.*316_*318delinsCGA
ENST00000611625.4:c.2139_2141delinsCGA	ENSP00000481063.1:p.Gly714Asp
ENST00000612417.4:c.1830+1419_1830+1421delinsCGA	ENSP00000478360.1:n.1830+1419_1830+1421de...
ENST00000621016.4:c.1865+1384_1865+1386delinsCGA	ENSP00000480664.1:n.1865+1384_1865+1386de...
NM_004360.3:c.2076_2078delinsCGA , LRG_301t1:c.2076_2078delinsCGA	NP_004351.1:p.Gly693Asp
XM_011523488.1:c.1341_1343delinsCGA	XP_011521790.1:p.Gly448Asp
XM_011523489.1:c.1341_1343delinsCGA	XP_011521791.1:p.Gly448Asp
NM_001317184.1:c.1893_1895delinsCGA	NP_001304113.1:p.Gly632Asp
NM_001317185.1:c.528_530delinsCGA	NP_001304114.1:p.Gly177Asp
NM_001317186.1:c.111_113delinsCGA	NP_001304115.1:p.Gly38Asp
NM_004360.4:c.2076_2078delinsCGA	NP_004351.1:p.Gly693Asp
NM_004360.5:c.2076_2078delinsCGA MANE Select	NP_004351.1:p.Gly693Asp
NM_001317184.2:c.1893_1895delinsCGA	NP_001304113.1:p.Gly632Asp
NM_001317185.2:c.528_530delinsCGA	NP_001304114.1:p.Gly177Asp
NM_001317186.2:c.111_113delinsCGA	NP_001304115.1:p.Gly38Asp