Canonical Allele Identifier: CA191858
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185408
ClinVar RCV Id: RCV000164820 RCV000479654 RCV000685278 RCV003328253
dbSNP Id: rs786202151
MyVariant Identifiers: chr16:g.68835611del (hg19) chr16:g.68801708del (hg38)
ERepo: CA191858/MONDO:0007648/007 CA191858/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801708del , CM000678.2:g.68801708del GRCh38
NC_000016.9:g.68835611del , CM000678.1:g.68835611del GRCh37
NC_000016.8:g.67393112del NCBI36
NG_008021.1:g.69417del , LRG_301:g.69417del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.202del MANE Select ENSP00000261769.4:p.Tyr68IlefsTer15
ENST00000261769.9:c.202del ENSP00000261769.4:p.Tyr68IlefsTer15
ENST00000422392.6:c.202del ENSP00000414946.2:p.Tyr68IlefsTer15
ENST00000562836.5:n.273del
ENST00000564676.5:n.484del
ENST00000564745.1:n.197del
ENST00000566510.5:c.202del ENSP00000458139.1:p.Tyr68IlefsTer15
ENST00000566612.5:c.202del ENSP00000454782.1:p.Tyr68IlefsTer15
ENST00000611625.4:c.202del ENSP00000481063.1:p.Tyr68IlefsTer15
ENST00000612417.4:c.202del ENSP00000478360.1:p.Tyr68IlefsTer15
ENST00000621016.4:c.202del ENSP00000480664.1:p.Tyr68IlefsTer15
NM_004360.3:c.202del , LRG_301t1:c.202del NP_004351.1:p.Tyr68IlefsTer15
XM_011523488.1:c.-534del XP_011521790.1:n.-534del
XM_011523489.1:c.-534del XP_011521791.1:n.-534del
NM_001317184.1:c.202del NP_001304113.1:p.Tyr68IlefsTer15
NM_001317185.1:c.-1414del NP_001304114.1:n.-1414del
NM_001317186.1:c.-1618del NP_001304115.1:n.-1618del
NM_004360.4:c.202del NP_004351.1:p.Tyr68IlefsTer15
NM_004360.5:c.202del MANE Select NP_004351.1:p.Tyr68IlefsTer15
NM_001317184.2:c.202del NP_001304113.1:p.Tyr68IlefsTer15
NM_001317185.2:c.-1414del NP_001304114.1:n.-1414del
NM_001317186.2:c.-1618del NP_001304115.1:n.-1618del
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