Canonical Allele Identifier: CA658683954
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 491497
ClinVar RCV Id: RCV000584079 RCV003328428
dbSNP Id: rs1555516137
MyVariant Identifiers: chr16:g.68849540del (hg19) chr16:g.68815637del (hg38)
ERepo: CA658683954/MONDO:0007648/007 CA658683954/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815637del , CM000678.2:g.68815637del GRCh38
NC_000016.9:g.68849540del , CM000678.1:g.68849540del GRCh37
NC_000016.8:g.67407041del NCBI36
NG_008021.1:g.83346del , LRG_301:g.83346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1443del MANE Select ENSP00000261769.4:p.Asn481LysfsTer?
ENST00000261769.9:c.1443del ENSP00000261769.4:p.Asn481LysfsTer?
ENST00000422392.6:c.1260del ENSP00000414946.2:p.Asn420LysfsTer?
ENST00000562836.5:n.1514del
ENST00000566510.5:c.*109del ENSP00000458139.1:n.*109del
ENST00000566612.5:c.1443del ENSP00000454782.1:p.Asn481LysfsTer?
ENST00000611625.4:c.1506del ENSP00000481063.1:p.Asn502LysfsTer?
ENST00000612417.4:c.1443del ENSP00000478360.1:p.Asn481LysfsTer?
ENST00000621016.4:c.1443del ENSP00000480664.1:p.Asn481LysfsTer?
NM_004360.3:c.1443del , LRG_301t1:c.1443del NP_004351.1:p.Asn481LysfsTer?
XM_011523488.1:c.708del XP_011521790.1:p.Asn236LysfsTer?
XM_011523489.1:c.708del XP_011521791.1:p.Asn236LysfsTer?
NM_001317184.1:c.1260del NP_001304113.1:p.Asn420LysfsTer?
NM_001317185.1:c.-106del NP_001304114.1:n.-106del
NM_001317186.1:c.-377del NP_001304115.1:n.-377del
NM_004360.4:c.1443del NP_004351.1:p.Asn481LysfsTer?
NM_004360.5:c.1443del MANE Select NP_004351.1:p.Asn481LysfsTer?
NM_001317184.2:c.1260del NP_001304113.1:p.Asn420LysfsTer?
NM_001317185.2:c.-106del NP_001304114.1:n.-106del
NM_001317186.2:c.-377del NP_001304115.1:n.-377del
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