Canonical Allele Identifier: CA195350
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186618
ClinVar RCV Id: RCV000166240 RCV000991100 RCV003328260
dbSNP Id: rs786203089
MyVariant Identifiers: chr16:g.68853330_68853335del (hg19) chr16:g.68819427_68819432del (hg38)
ERepo: CA195350/MONDO:0007648/007 CA195350/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819427_68819432del , CM000678.2:g.68819427_68819432del GRCh38
NC_000016.9:g.68853330_68853335del , CM000678.1:g.68853330_68853335del GRCh37
NC_000016.8:g.67410831_67410836del NCBI36
NG_008021.1:g.87136_87141del , LRG_301:g.87136_87141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1711+2_1711+7del
ENST00000261769.9:c.1711+2_1711+7del
ENST00000422392.6:c.1528+2_1528+7del
ENST00000562836.5:n.1782+2_1782+7del
ENST00000566510.5:c.*377+2_*377+7del
ENST00000566612.5:c.1566-2574_1566-2569del ENSP00000454782.1:n.1566-2574_1566-2569del
ENST00000611625.4:c.1774+2_1774+7del
ENST00000612417.4:c.1711+2_1711+7del
ENST00000621016.4:c.1711+2_1711+7del
NM_004360.3:c.1711+2_1711+7del , LRG_301t1:c.1711+2_1711+7del
XM_011523488.1:c.976+2_976+7del
XM_011523489.1:c.976+2_976+7del
NM_001317184.1:c.1528+2_1528+7del
NM_001317185.1:c.163+2_163+7del
NM_001317186.1:c.-254-2574_-254-2569del NP_001304115.1:n.-254-2574_-254-2569del
NM_004360.4:c.1711+2_1711+7del
NM_004360.5:c.1711+2_1711+7del
NM_001317184.2:c.1528+2_1528+7del
NM_001317185.2:c.163+2_163+7del
NM_001317186.2:c.-254-2574_-254-2569del NP_001304115.1:n.-254-2574_-254-2569del
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