Allele Registry

Canonical Allele Identifier: CA163603

Gene: CDH1 HGNC NCBI

Linked Data

ClinGen Classification:

Classification Pathogenic

Condition CDH1-related diffuse gastric and lobular breast cancer

VCEP CDH1 VCEP

ClinVar RCV:

RCV000128977

RCV000479605

RCV000991078

RCV002273957

RCV003328201

ClinVar Variation:

140803

dbSNP:

587781290

MyVariant.info:

GRCh38 chr16:g.68808557dupA

GRCh37 chr16:g.68842460dupA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808557dup , CM000678.2:g.68808557dup	GRCh38
NC_000016.9:g.68842460dup , CM000678.1:g.68842460dup	GRCh37
NC_000016.8:g.67399961dup	NCBI36
NG_008021.1:g.76266dup , LRG_301:g.76266dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.521dup MANE Select	ENSP00000261769.4:p.Asn174LysfsTer25
ENST00000261769.9:c.521dup	ENSP00000261769.4:p.Asn174LysfsTer25
ENST00000422392.6:c.521dup	ENSP00000414946.2:p.Asn174LysfsTer25
ENST00000561751.1:c.288dup
ENST00000562836.5:n.592dup
ENST00000564676.5:n.803dup
ENST00000564745.1:n.516dup
ENST00000566510.5:c.521dup	ENSP00000458139.1:p.Asn174LysfsTer18
ENST00000566612.5:c.521dup	ENSP00000454782.1:p.Asn174LysfsTer25
ENST00000567320.1:n.31dup
ENST00000611625.4:c.521dup	ENSP00000481063.1:p.Asn174LysfsTer25
ENST00000612417.4:c.521dup	ENSP00000478360.1:p.Asn174LysfsTer25
ENST00000621016.4:c.521dup	ENSP00000480664.1:p.Asn174LysfsTer25
NM_004360.3:c.521dup , LRG_301t1:c.521dup	NP_004351.1:p.Asn174LysfsTer25
XM_011523488.1:c.-215dup	XP_011521790.1:n.-215dup
XM_011523489.1:c.-215dup	XP_011521791.1:n.-215dup
NM_001317184.1:c.521dup	NP_001304113.1:p.Asn174LysfsTer25
NM_001317185.1:c.-1095dup	NP_001304114.1:n.-1095dup
NM_001317186.1:c.-1299dup	NP_001304115.1:n.-1299dup
NM_004360.4:c.521dup	NP_004351.1:p.Asn174LysfsTer25
NM_004360.5:c.521dup MANE Select	NP_004351.1:p.Asn174LysfsTer25
NM_001317184.2:c.521dup	NP_001304113.1:p.Asn174LysfsTer25
NM_001317185.2:c.-1095dup	NP_001304114.1:n.-1095dup
NM_001317186.2:c.-1299dup	NP_001304115.1:n.-1299dup

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