Canonical Allele Identifier: CA16620235
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422315
ClinVar RCV Id: RCV000486371 RCV002323838 RCV003328364 RCV003335370
dbSNP Id: rs1064795703
MyVariant Identifiers: chr16:g.68835724del (hg19) chr16:g.68801821del (hg38)
ERepo: CA16620235/MONDO:0007648/007 CA16620235/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801821del , CM000678.2:g.68801821del GRCh38
NC_000016.9:g.68835724del , CM000678.1:g.68835724del GRCh37
NC_000016.8:g.67393225del NCBI36
NG_008021.1:g.69530del , LRG_301:g.69530del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.315del MANE Select ENSP00000261769.4:p.Thr106ProfsTer11
ENST00000261769.9:c.315del ENSP00000261769.4:p.Thr106ProfsTer11
ENST00000422392.6:c.315del ENSP00000414946.2:p.Thr106ProfsTer11
ENST00000561751.1:c.82del
ENST00000562836.5:n.386del
ENST00000564676.5:n.597del
ENST00000564745.1:n.310del
ENST00000566510.5:c.315del ENSP00000458139.1:p.Thr106ProfsTer11
ENST00000566612.5:c.315del ENSP00000454782.1:p.Thr106ProfsTer11
ENST00000611625.4:c.315del ENSP00000481063.1:p.Thr106ProfsTer11
ENST00000612417.4:c.315del ENSP00000478360.1:p.Thr106ProfsTer11
ENST00000621016.4:c.315del ENSP00000480664.1:p.Thr106ProfsTer11
NM_004360.3:c.315del , LRG_301t1:c.315del NP_004351.1:p.Thr106ProfsTer11
XM_011523488.1:c.-421del XP_011521790.1:n.-421del
XM_011523489.1:c.-421del XP_011521791.1:n.-421del
NM_001317184.1:c.315del NP_001304113.1:p.Thr106ProfsTer11
NM_001317185.1:c.-1301del NP_001304114.1:n.-1301del
NM_001317186.1:c.-1505del NP_001304115.1:n.-1505del
NM_004360.4:c.315del NP_004351.1:p.Thr106ProfsTer11
NM_004360.5:c.315del MANE Select NP_004351.1:p.Thr106ProfsTer11
NM_001317184.2:c.315del NP_001304113.1:p.Thr106ProfsTer11
NM_001317185.2:c.-1301del NP_001304114.1:n.-1301del
NM_001317186.2:c.-1505del NP_001304115.1:n.-1505del
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