Allele Registry

Canonical Allele Identifier: CA658683963

Gene: CDH1 HGNC NCBI

Linked Data

ClinGen Classification:

Classification Pathogenic

Condition CDH1-related diffuse gastric and lobular breast cancer

VCEP CDH1 VCEP

ClinVar RCV:

RCV000584408

RCV003328429

RCV003336072

ClinVar Variation:

491520

dbSNP:

1555517153

MyVariant.info:

GRCh38 chr16:g.68823606del

GRCh37 chr16:g.68857509del

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823606del , CM000678.2:g.68823606del	GRCh38
NC_000016.9:g.68857509del , CM000678.1:g.68857509del	GRCh37
NC_000016.8:g.67415010del	NCBI36
NG_008021.1:g.91315del , LRG_301:g.91315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2144del MANE Select	ENSP00000261769.4:p.Gly715GlufsTer7
ENST00000261769.9:c.2144del	ENSP00000261769.4:p.Gly715GlufsTer7
ENST00000422392.6:c.1961del	ENSP00000414946.2:p.Gly654GlufsTer7
ENST00000562118.1:n.362del
ENST00000562836.5:n.2215del
ENST00000566510.5:c.*810del	ENSP00000458139.1:n.*810del
ENST00000566612.5:c.*384del	ENSP00000454782.1:n.*384del
ENST00000611625.4:c.2207del	ENSP00000481063.1:p.Gly736GlufsTer7
ENST00000612417.4:c.1830+1487del	ENSP00000478360.1:n.1830+1487del
ENST00000621016.4:c.1865+1452del	ENSP00000480664.1:n.1865+1452del
NM_004360.3:c.2144del , LRG_301t1:c.2144del	NP_004351.1:p.Gly715GlufsTer7
XM_011523488.1:c.1409del	XP_011521790.1:p.Gly470GlufsTer7
XM_011523489.1:c.1409del	XP_011521791.1:p.Gly470GlufsTer7
NM_001317184.1:c.1961del	NP_001304113.1:p.Gly654GlufsTer7
NM_001317185.1:c.596del	NP_001304114.1:p.Gly199GlufsTer7
NM_001317186.1:c.179del	NP_001304115.1:p.Gly60GlufsTer7
NM_004360.4:c.2144del	NP_004351.1:p.Gly715GlufsTer7
NM_004360.5:c.2144del MANE Select	NP_004351.1:p.Gly715GlufsTer7
NM_001317184.2:c.1961del	NP_001304113.1:p.Gly654GlufsTer7
NM_001317185.2:c.596del	NP_001304114.1:p.Gly199GlufsTer7
NM_001317186.2:c.179del	NP_001304115.1:p.Gly60GlufsTer7

Search 100 bp 5'

Search 100 bp 3'