Canonical Allele Identifier: CA2499223667

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1074240
• ClinVar RCV Id: RCV001387465
• dbSNP Id: rs2152137001

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819409_68819410insTT , CM000678.2:g.68819409_68819410insTT	GRCh38
NC_000016.9:g.68853312_68853313insTT , CM000678.1:g.68853312_68853313insTT	GRCh37
NC_000016.8:g.67410813_67410814insTT	NCBI36
NG_008021.1:g.87118_87119insTT , LRG_301:g.87118_87119insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1695_1696insTT MANE Select	ENSP00000261769.4:p.Ile566LeufsTer2
ENST00000261769.9:c.1695_1696insTT	ENSP00000261769.4:p.Ile566LeufsTer2
ENST00000422392.6:c.1512_1513insTT	ENSP00000414946.2:p.Ile505LeufsTer2
ENST00000562836.5:n.1766_1767insTT
ENST00000566510.5:c.*361_*362insTT	ENSP00000458139.1:n.*361_*362insTT
ENST00000566612.5:c.1566-2592_1566-2591insTT	ENSP00000454782.1:n.1566-2592_1566-2591in...
ENST00000611625.4:c.1758_1759insTT	ENSP00000481063.1:p.Ile587LeufsTer2
ENST00000612417.4:c.1695_1696insTT	ENSP00000478360.1:p.Ile566LeufsTer2
ENST00000621016.4:c.1695_1696insTT	ENSP00000480664.1:p.Ile566LeufsTer2
NM_004360.3:c.1695_1696insTT , LRG_301t1:c.1695_1696insTT	NP_004351.1:p.Ile566LeufsTer2
XM_011523488.1:c.960_961insTT	XP_011521790.1:p.Ile321LeufsTer2
XM_011523489.1:c.960_961insTT	XP_011521791.1:p.Ile321LeufsTer2
NM_001317184.1:c.1512_1513insTT	NP_001304113.1:p.Ile505LeufsTer2
NM_001317185.1:c.147_148insTT	NP_001304114.1:p.Ile50LeufsTer2
NM_001317186.1:c.-254-2592_-254-2591insTT	NP_001304115.1:n.-254-2592_-254-2591insTT...
NM_004360.4:c.1695_1696insTT	NP_004351.1:p.Ile566LeufsTer2
NM_004360.5:c.1695_1696insTT MANE Select	NP_004351.1:p.Ile566LeufsTer2
NM_001317184.2:c.1512_1513insTT	NP_001304113.1:p.Ile505LeufsTer2
NM_001317185.2:c.147_148insTT	NP_001304114.1:p.Ile50LeufsTer2
NM_001317186.2:c.-254-2592_-254-2591insTT	NP_001304115.1:n.-254-2592_-254-2591insTT...