Canonical Allele Identifier: CA16614952
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406615
ClinVar RCV Id: RCV000466995
dbSNP Id: rs1060501214
COSMIC: COSM435591

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810205_68810206del , CM000678.2:g.68810205_68810206del GRCh38
NC_000016.9:g.68844108_68844109del , CM000678.1:g.68844108_68844109del GRCh37
NC_000016.8:g.67401609_67401610del NCBI36
NG_008021.1:g.77914_77915del , LRG_301:g.77914_77915del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.696_697del MANE Select ENSP00000261769.4:p.His233ArgfsTer10
ENST00000261769.9:c.696_697del ENSP00000261769.4:p.His233ArgfsTer10
ENST00000422392.6:c.696_697del ENSP00000414946.2:p.His233ArgfsTer10
ENST00000561751.1:n.454+1357_454+1358del
ENST00000562836.5:n.767_768del
ENST00000566510.5:c.540_541del ENSP00000458139.1:p.His181ArgfsTer10
ENST00000566612.5:c.696_697del ENSP00000454782.1:p.His233ArgfsTer10
ENST00000611625.4:c.696_697del ENSP00000481063.1:p.His233ArgfsTer10
ENST00000612417.4:c.696_697del ENSP00000478360.1:p.His233ArgfsTer10
ENST00000621016.4:c.696_697del ENSP00000480664.1:p.His233ArgfsTer10
NM_004360.3:c.696_697del , LRG_301t1:c.696_697del NP_004351.1:p.His233ArgfsTer10
XM_011523488.1:c.-40_-39del XP_011521790.1:p.=
XM_011523489.1:c.-40_-39del XP_011521791.1:p.=
NM_001317184.1:c.696_697del NP_001304113.1:p.His233ArgfsTer10
NM_001317185.1:c.-920_-919del NP_001304114.1:p.=
NM_001317186.1:c.-1124_-1123del NP_001304115.1:p.=
NM_004360.4:c.696_697del NP_004351.1:p.His233ArgfsTer10
NM_004360.5:c.696_697del MANE Select NP_004351.1:p.His233ArgfsTer10
NM_001317184.2:c.696_697del NP_001304113.1:p.His233ArgfsTer10
NM_001317185.2:c.-920_-919del NP_001304114.1:p.=
NM_001317186.2:c.-1124_-1123del NP_001304115.1:p.=