Canonical Allele Identifier: CA645509535
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439040
ClinVar RCV Id: RCV000505868 RCV003328387 RCV002383978
dbSNP Id: rs1555516089
MyVariant Identifiers: chr16:g.68849438del (hg19) chr16:g.68815535del (hg38)
ERepo: CA645509535/MONDO:0007648/007 CA645509535/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815535del , CM000678.2:g.68815535del GRCh38
NC_000016.9:g.68849438del , CM000678.1:g.68849438del GRCh37
NC_000016.8:g.67406939del NCBI36
NG_008021.1:g.83244del , LRG_301:g.83244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1341del MANE Select ENSP00000261769.4:p.Lys447AsnfsTer8
ENST00000261769.9:c.1341del ENSP00000261769.4:p.Lys447AsnfsTer8
ENST00000422392.6:c.1158del ENSP00000414946.2:p.Lys386AsnfsTer8
ENST00000562836.5:n.1412del
ENST00000566510.5:c.*7del ENSP00000458139.1:n.*7del
ENST00000566612.5:c.1341del ENSP00000454782.1:p.Lys447AsnfsTer8
ENST00000611625.4:c.1404del ENSP00000481063.1:p.Lys468AsnfsTer8
ENST00000612417.4:c.1341del ENSP00000478360.1:p.Lys447AsnfsTer8
ENST00000621016.4:c.1341del ENSP00000480664.1:p.Lys447AsnfsTer8
NM_004360.3:c.1341del , LRG_301t1:c.1341del NP_004351.1:p.Lys447AsnfsTer8
XM_011523488.1:c.606del XP_011521790.1:p.Lys202AsnfsTer8
XM_011523489.1:c.606del XP_011521791.1:p.Lys202AsnfsTer8
NM_001317184.1:c.1158del NP_001304113.1:p.Lys386AsnfsTer8
NM_001317185.1:c.-208del NP_001304114.1:n.-208del
NM_001317186.1:c.-479del NP_001304115.1:n.-479del
NM_004360.4:c.1341del NP_004351.1:p.Lys447AsnfsTer8
NM_004360.5:c.1341del MANE Select NP_004351.1:p.Lys447AsnfsTer8
NM_001317184.2:c.1158del NP_001304113.1:p.Lys386AsnfsTer8
NM_001317185.2:c.-208del NP_001304114.1:n.-208del
NM_001317186.2:c.-479del NP_001304115.1:n.-479del
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