Canonical Allele Identifier: CA2582342544
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583363
ClinVar RCV Id: RCV003337034

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68738384del , CM000678.2:g.68738384del GRCh38
NC_000016.9:g.68772287del , CM000678.1:g.68772287del GRCh37
NC_000016.8:g.67329788del NCBI36
NG_008021.1:g.6093del , LRG_301:g.6093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.136del MANE Select ENSP00000261769.4:p.Leu46TrpfsTer10
ENST00000261769.9:c.136del ENSP00000261769.4:p.Leu46TrpfsTer10
ENST00000422392.6:c.136del ENSP00000414946.2:p.Leu46TrpfsTer10
ENST00000566510.5:c.136del ENSP00000458139.1:p.Leu46TrpfsTer10
ENST00000566612.5:c.136del ENSP00000454782.1:p.Leu46TrpfsTer10
ENST00000611625.4:c.136del ENSP00000481063.1:p.Leu46TrpfsTer10
ENST00000612417.4:c.136del ENSP00000478360.1:p.Leu46TrpfsTer10
ENST00000621016.4:c.136del ENSP00000480664.1:p.Leu46TrpfsTer10
NM_004360.3:c.136del , LRG_301t1:c.136del NP_004351.1:p.Leu46TrpfsTer10
NM_001317184.1:c.136del NP_001304113.1:p.Leu46TrpfsTer10
NM_001317185.1:c.-1480del NP_001304114.1:n.-1480del
NM_001317186.1:c.-1684del NP_001304115.1:n.-1684del
NM_004360.4:c.136del NP_004351.1:p.Leu46TrpfsTer10
NM_004360.5:c.136del MANE Select NP_004351.1:p.Leu46TrpfsTer10
NM_001317184.2:c.136del NP_001304113.1:p.Leu46TrpfsTer10
NM_001317185.2:c.-1480del NP_001304114.1:n.-1480del
NM_001317186.2:c.-1684del NP_001304115.1:n.-1684del