Canonical Allele Identifier: CA658683948
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 488647
ClinVar RCV Id: RCV000578321 RCV000759015 RCV001002307 RCV003328426
dbSNP Id: rs1555515284
MyVariant Identifiers: chr16:g.68842719del (hg19) chr16:g.68808816del (hg38)
ERepo: CA658683948/MONDO:0007648/007 CA658683948/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68808817del , CM000678.2:g.68808817del GRCh38
NC_000016.9:g.68842720del , CM000678.1:g.68842720del GRCh37
NC_000016.8:g.67400221del NCBI36
NG_008021.1:g.76526del , LRG_301:g.76526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.656del MANE Select ENSP00000261769.4:p.Pro219LeufsTer?
ENST00000261769.9:c.656del ENSP00000261769.4:p.Pro219LeufsTer?
ENST00000422392.6:c.656del ENSP00000414946.2:p.Pro219LeufsTer?
ENST00000561751.1:c.423del
ENST00000562836.5:n.727del
ENST00000564676.5:n.938del
ENST00000566510.5:c.531+250del ENSP00000458139.1:n.531+250del
ENST00000566612.5:c.656del ENSP00000454782.1:p.Pro219LeufsTer?
ENST00000567320.1:n.166del
ENST00000611625.4:c.656del ENSP00000481063.1:p.Pro219LeufsTer?
ENST00000612417.4:c.656del ENSP00000478360.1:p.Pro219LeufsTer?
ENST00000621016.4:c.656del ENSP00000480664.1:p.Pro219LeufsTer?
NM_004360.3:c.656del , LRG_301t1:c.656del NP_004351.1:p.Pro219LeufsTer?
XM_011523488.1:c.-80del XP_011521790.1:n.-80del
XM_011523489.1:c.-80del XP_011521791.1:n.-80del
NM_001317184.1:c.656del NP_001304113.1:p.Pro219LeufsTer?
NM_001317185.1:c.-960del NP_001304114.1:n.-960del
NM_001317186.1:c.-1164del NP_001304115.1:n.-1164del
NM_004360.4:c.656del NP_004351.1:p.Pro219LeufsTer?
NM_004360.5:c.656del MANE Select NP_004351.1:p.Pro219LeufsTer?
NM_001317184.2:c.656del NP_001304113.1:p.Pro219LeufsTer?
NM_001317185.2:c.-960del NP_001304114.1:n.-960del
NM_001317186.2:c.-1164del NP_001304115.1:n.-1164del
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