Canonical Allele Identifier: CA645369680
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428634
ClinVar RCV Id: RCV000492088 RCV003328382 RCV001712455
dbSNP Id: rs1131690822
MyVariant Identifiers: chr16:g.68867243dup (hg19) chr16:g.68833340dup (hg38)
ERepo: CA645369680/MONDO:0007648/007 CA645369680/MONDO:0100488/007
PubMed: PMID:20371349
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833340dup , CM000678.2:g.68833340dup GRCh38
NC_000016.9:g.68867243dup , CM000678.1:g.68867243dup GRCh37
NC_000016.8:g.67424744dup NCBI36
NG_008021.1:g.101049dup , LRG_301:g.101049dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2490dup MANE Select ENSP00000261769.4:p.Leu831AlafsTer4
ENST00000261769.9:c.2490dup ENSP00000261769.4:p.Leu831AlafsTer4
ENST00000422392.6:c.2307dup ENSP00000414946.2:p.Leu770AlafsTer4
ENST00000562118.1:n.708dup
ENST00000562836.5:n.2561dup
ENST00000566510.5:c.*1156dup ENSP00000458139.1:n.*1156dup
ENST00000566612.5:c.*730dup ENSP00000454782.1:n.*730dup
ENST00000611625.4:c.2553dup ENSP00000481063.1:p.Leu852AlafsTer4
ENST00000612417.4:c.1854-851dup ENSP00000478360.1:n.1854-851dup
ENST00000621016.4:c.1866-863dup ENSP00000480664.1:n.1866-863dup
NM_004360.3:c.2490dup , LRG_301t1:c.2490dup NP_004351.1:p.Leu831AlafsTer4
XM_011523488.1:c.1755dup XP_011521790.1:p.Leu586AlafsTer4
XM_011523489.1:c.1755dup XP_011521791.1:p.Leu586AlafsTer4
NM_001317184.1:c.2307dup NP_001304113.1:p.Leu770AlafsTer4
NM_001317185.1:c.942dup NP_001304114.1:p.Leu315AlafsTer4
NM_001317186.1:c.525dup NP_001304115.1:p.Leu176AlafsTer4
NM_004360.4:c.2490dup NP_004351.1:p.Leu831AlafsTer4
NM_004360.5:c.2490dup MANE Select NP_004351.1:p.Leu831AlafsTer4
NM_001317184.2:c.2307dup NP_001304113.1:p.Leu770AlafsTer4
NM_001317185.2:c.942dup NP_001304114.1:p.Leu315AlafsTer4
NM_001317186.2:c.525dup NP_001304115.1:p.Leu176AlafsTer4
Search 100 bp 5'
Search 100 bp 3'