Canonical Allele Identifier: CA349680

Gene: CDH1

Linked Data

• ClinVar Variation Id: 220300
• ClinVar RCV Id: RCV000205531 ; RCV000773194 ; RCV001260225 ; RCV001818500
• ERepo: CA349680/MONDO:0007648/007 ; CA349680/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823538_68823539delinsCA , CM000678.2:g.68823538_68823539delinsCA	GRCh38
NC_000016.9:g.68857441_68857442delinsCA , CM000678.1:g.68857441_68857442delinsCA	GRCh37
NC_000016.8:g.67414942_67414943delinsCA	NCBI36
NG_008021.1:g.91247_91248delinsCA , LRG_301:g.91247_91248delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2076_2077delinsCA MANE Select	ENSP00000261769.4:p.Gly693Ser
ENST00000261769.9:c.2076_2077delinsCA	ENSP00000261769.4:p.Gly693Ser
ENST00000422392.6:c.1893_1894delinsCA	ENSP00000414946.2:p.Gly632Ser
ENST00000562118.1:n.294_295delinsCA
ENST00000562836.5:n.2147_2148delinsCA
ENST00000566510.5:c.*742_*743delinsCA	ENSP00000458139.1:n.*742_*743delinsCA
ENST00000566612.5:c.*316_*317delinsCA	ENSP00000454782.1:n.*316_*317delinsCA
ENST00000611625.4:c.2139_2140delinsCA	ENSP00000481063.1:p.Gly714Ser
ENST00000612417.4:c.1830+1419_1830+1420delinsCA	ENSP00000478360.1:n.1830+1419_1830+1420de...
ENST00000621016.4:c.1865+1384_1865+1385delinsCA	ENSP00000480664.1:n.1865+1384_1865+1385de...
NM_004360.3:c.2076_2077delinsCA , LRG_301t1:c.2076_2077delinsCA	NP_004351.1:p.Gly693Ser
XM_011523488.1:c.1341_1342delinsCA	XP_011521790.1:p.Gly448Ser
XM_011523489.1:c.1341_1342delinsCA	XP_011521791.1:p.Gly448Ser
NM_001317184.1:c.1893_1894delinsCA	NP_001304113.1:p.Gly632Ser
NM_001317185.1:c.528_529delinsCA	NP_001304114.1:p.Gly177Ser
NM_001317186.1:c.111_112delinsCA	NP_001304115.1:p.Gly38Ser
NM_004360.4:c.2076_2077delinsCA	NP_004351.1:p.Gly693Ser
NM_004360.5:c.2076_2077delinsCA MANE Select	NP_004351.1:p.Gly693Ser
NM_001317184.2:c.1893_1894delinsCA	NP_001304113.1:p.Gly632Ser
NM_001317185.2:c.528_529delinsCA	NP_001304114.1:p.Gly177Ser
NM_001317186.2:c.111_112delinsCA	NP_001304115.1:p.Gly38Ser