Canonical Allele Identifier: CA2582342584
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583799
ClinVar RCV Id: RCV003334721

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810205_68810259del , CM000678.2:g.68810205_68810259del GRCh38
NC_000016.9:g.68844108_68844162del , CM000678.1:g.68844108_68844162del GRCh37
NC_000016.8:g.67401609_67401663del NCBI36
NG_008021.1:g.77914_77968del , LRG_301:g.77914_77968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.696_750del MANE Select ENSP00000261769.4:p.His233ArgfsTer2
ENST00000261769.9:c.696_750del ENSP00000261769.4:p.His233ArgfsTer2
ENST00000422392.6:c.696_750del ENSP00000414946.2:p.His233ArgfsTer2
ENST00000561751.1:c.454+1357_454+1411del
ENST00000562836.5:n.767_821del
ENST00000566510.5:c.540_594del ENSP00000458139.1:p.His181ArgfsTer2
ENST00000566612.5:c.696_750del ENSP00000454782.1:p.His233ArgfsTer2
ENST00000611625.4:c.696_750del ENSP00000481063.1:p.His233ArgfsTer2
ENST00000612417.4:c.696_750del ENSP00000478360.1:p.His233ArgfsTer2
ENST00000621016.4:c.696_750del ENSP00000480664.1:p.His233ArgfsTer2
NM_004360.3:c.696_750del , LRG_301t1:c.696_750del NP_004351.1:p.His233ArgfsTer2
XM_011523488.1:c.-40_15del
XM_011523489.1:c.-40_15del
NM_001317184.1:c.696_750del NP_001304113.1:p.His233ArgfsTer2
NM_001317185.1:c.-920_-866del NP_001304114.1:n.-920_-866del
NM_001317186.1:c.-1124_-1070del NP_001304115.1:n.-1124_-1070del
NM_004360.4:c.696_750del NP_004351.1:p.His233ArgfsTer2
NM_004360.5:c.696_750del MANE Select NP_004351.1:p.His233ArgfsTer2
NM_001317184.2:c.696_750del NP_001304113.1:p.His233ArgfsTer2
NM_001317185.2:c.-920_-866del NP_001304114.1:n.-920_-866del
NM_001317186.2:c.-1124_-1070del NP_001304115.1:n.-1124_-1070del