Canonical Allele Identifier: CA2580091846

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2103063
• ClinVar RCV Id: RCV003028768

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68811783_68811784delinsAT , CM000678.2:g.68811783_68811784delinsAT	GRCh38
NC_000016.9:g.68845686_68845687delinsAT , CM000678.1:g.68845686_68845687delinsAT	GRCh37
NC_000016.8:g.67403187_67403188delinsAT	NCBI36
NG_008021.1:g.79492_79493delinsAT , LRG_301:g.79492_79493delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.932_933delinsAT MANE Select	ENSP00000261769.4:p.Leu311His
ENST00000261769.9:c.932_933delinsAT	ENSP00000261769.4:p.Leu311His
ENST00000422392.6:c.932_933delinsAT	ENSP00000414946.2:p.Leu311His
ENST00000561751.1:c.554_555delinsAT
ENST00000562836.5:n.1003_1004delinsAT
ENST00000566510.5:c.776_777delinsAT	ENSP00000458139.1:p.Leu259His
ENST00000566612.5:c.932_933delinsAT	ENSP00000454782.1:p.Leu311His
ENST00000611625.4:c.932_933delinsAT	ENSP00000481063.1:p.Leu311His
ENST00000612417.4:c.932_933delinsAT	ENSP00000478360.1:p.Leu311His
ENST00000621016.4:c.932_933delinsAT	ENSP00000480664.1:p.Leu311His
NM_004360.3:c.932_933delinsAT , LRG_301t1:c.932_933delinsAT	NP_004351.1:p.Leu311His
XM_011523488.1:c.197_198delinsAT	XP_011521790.1:p.Leu66His
XM_011523489.1:c.197_198delinsAT	XP_011521791.1:p.Leu66His
NM_001317184.1:c.932_933delinsAT	NP_001304113.1:p.Leu311His
NM_001317185.1:c.-684_-683delinsAT	NP_001304114.1:n.-684_-683delinsAT
NM_001317186.1:c.-888_-887delinsAT	NP_001304115.1:n.-888_-887delinsAT
NM_004360.4:c.932_933delinsAT	NP_004351.1:p.Leu311His
NM_004360.5:c.932_933delinsAT MANE Select	NP_004351.1:p.Leu311His
NM_001317184.2:c.932_933delinsAT	NP_001304113.1:p.Leu311His
NM_001317185.2:c.-684_-683delinsAT	NP_001304114.1:n.-684_-683delinsAT
NM_001317186.2:c.-888_-887delinsAT	NP_001304115.1:n.-888_-887delinsAT