Canonical Allele Identifier: CA16620255

Gene: CDH1

Linked Data

• ClinVar Variation Id: 419762
• ClinVar RCV Id: RCV000478155 ; RCV001014330
• dbSNP Id: rs1064794090

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823536_68823538delinsACC , CM000678.2:g.68823536_68823538delinsACC	GRCh38
NC_000016.9:g.68857439_68857441delinsACC , CM000678.1:g.68857439_68857441delinsACC	GRCh37
NC_000016.8:g.67414940_67414942delinsACC	NCBI36
NG_008021.1:g.91245_91247delinsACC , LRG_301:g.91245_91247delinsACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2074_2076delinsACC MANE Select	ENSP00000261769.4:p.Ala692Thr
ENST00000261769.9:c.2074_2076delinsACC	ENSP00000261769.4:p.Ala692Thr
ENST00000422392.6:c.1891_1893delinsACC	ENSP00000414946.2:p.Ala631Thr
ENST00000562118.1:n.292_294delinsACC
ENST00000562836.5:n.2145_2147delinsACC
ENST00000566510.5:c.*740_*742delinsACC	ENSP00000458139.1:n.*740_*742delinsACC
ENST00000566612.5:c.*314_*316delinsACC	ENSP00000454782.1:n.*314_*316delinsACC
ENST00000611625.4:c.2137_2139delinsACC	ENSP00000481063.1:p.Ala713Thr
ENST00000612417.4:c.1830+1417_1830+1419delinsACC	ENSP00000478360.1:n.1830+1417_1830+1419de...
ENST00000621016.4:c.1865+1382_1865+1384delinsACC	ENSP00000480664.1:n.1865+1382_1865+1384de...
NM_004360.3:c.2074_2076delinsACC , LRG_301t1:c.2074_2076delinsACC	NP_004351.1:p.Ala692Thr
XM_011523488.1:c.1339_1341delinsACC	XP_011521790.1:p.Ala447Thr
XM_011523489.1:c.1339_1341delinsACC	XP_011521791.1:p.Ala447Thr
NM_001317184.1:c.1891_1893delinsACC	NP_001304113.1:p.Ala631Thr
NM_001317185.1:c.526_528delinsACC	NP_001304114.1:p.Ala176Thr
NM_001317186.1:c.109_111delinsACC	NP_001304115.1:p.Ala37Thr
NM_004360.4:c.2074_2076delinsACC	NP_004351.1:p.Ala692Thr
NM_004360.5:c.2074_2076delinsACC MANE Select	NP_004351.1:p.Ala692Thr
NM_001317184.2:c.1891_1893delinsACC	NP_001304113.1:p.Ala631Thr
NM_001317185.2:c.526_528delinsACC	NP_001304114.1:p.Ala176Thr
NM_001317186.2:c.109_111delinsACC	NP_001304115.1:p.Ala37Thr