Canonical Allele Identifier: CA658658495
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 483276
ClinVar RCV Id: RCV000561883 RCV003328421 RCV003335512
dbSNP Id: rs1555517074
MyVariant Identifiers: chr16:g.68857313_68857314del (hg19) chr16:g.68823410_68823411del (hg38)
ERepo: CA658658495/MONDO:0007648/007 CA658658495/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823410_68823411del , CM000678.2:g.68823410_68823411del GRCh38
NC_000016.9:g.68857313_68857314del , CM000678.1:g.68857313_68857314del GRCh37
NC_000016.8:g.67414814_67414815del NCBI36
NG_008021.1:g.91119_91120del , LRG_301:g.91119_91120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1948_1949del MANE Select ENSP00000261769.4:p.Ile650HisfsTer12
ENST00000261769.9:c.1948_1949del ENSP00000261769.4:p.Ile650HisfsTer12
ENST00000422392.6:c.1765_1766del ENSP00000414946.2:p.Ile589HisfsTer12
ENST00000562118.1:n.166_167del
ENST00000562836.5:n.2019_2020del
ENST00000566510.5:c.*614_*615del ENSP00000458139.1:n.*614_*615del
ENST00000566612.5:c.*188_*189del ENSP00000454782.1:n.*188_*189del
ENST00000611625.4:c.2011_2012del ENSP00000481063.1:p.Ile671HisfsTer12
ENST00000612417.4:c.1830+1291_1830+1292del ENSP00000478360.1:n.1830+1291_1830+1292del
ENST00000621016.4:c.1865+1256_1865+1257del ENSP00000480664.1:n.1865+1256_1865+1257del
NM_004360.3:c.1948_1949del , LRG_301t1:c.1948_1949del NP_004351.1:p.Ile650HisfsTer12
XM_011523488.1:c.1213_1214del XP_011521790.1:p.Ile405HisfsTer12
XM_011523489.1:c.1213_1214del XP_011521791.1:p.Ile405HisfsTer12
NM_001317184.1:c.1765_1766del NP_001304113.1:p.Ile589HisfsTer12
NM_001317185.1:c.400_401del NP_001304114.1:p.Ile134HisfsTer12
NM_001317186.1:c.-18_-17del NP_001304115.1:n.-18_-17del
NM_004360.4:c.1948_1949del NP_004351.1:p.Ile650HisfsTer12
NM_004360.5:c.1948_1949del MANE Select NP_004351.1:p.Ile650HisfsTer12
NM_001317184.2:c.1765_1766del NP_001304113.1:p.Ile589HisfsTer12
NM_001317185.2:c.400_401del NP_001304114.1:p.Ile134HisfsTer12
NM_001317186.2:c.-18_-17del NP_001304115.1:n.-18_-17del
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