Canonical Allele Identifier: CA2580612819
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2102629
ClinVar RCV Id: RCV003019606

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801653_68801654del , CM000678.2:g.68801653_68801654del GRCh38
NC_000016.9:g.68835556_68835557del , CM000678.1:g.68835556_68835557del GRCh37
NC_000016.8:g.67393057_67393058del NCBI36
NG_008021.1:g.69362_69363del , LRG_301:g.69362_69363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.164-17_164-16del MANE Select ENSP00000261769.4:n.164-17_164-16del
ENST00000261769.9:c.164-17_164-16del ENSP00000261769.4:n.164-17_164-16del
ENST00000422392.6:c.164-17_164-16del ENSP00000414946.2:n.164-17_164-16del
ENST00000562836.5:n.235-17_235-16del
ENST00000564676.5:n.446-17_446-16del
ENST00000564745.1:n.159-17_159-16del
ENST00000566510.5:c.164-17_164-16del ENSP00000458139.1:n.164-17_164-16del
ENST00000566612.5:c.164-17_164-16del ENSP00000454782.1:n.164-17_164-16del
ENST00000611625.4:c.164-17_164-16del ENSP00000481063.1:n.164-17_164-16del
ENST00000612417.4:c.164-17_164-16del ENSP00000478360.1:n.164-17_164-16del
ENST00000621016.4:c.164-17_164-16del ENSP00000480664.1:n.164-17_164-16del
NM_004360.3:c.164-17_164-16del , LRG_301t1:c.164-17_164-16del NP_004351.1:n.164-17_164-16del
XM_011523488.1:c.-572-17_-572-16del XP_011521790.1:n.-572-17_-572-16del
XM_011523489.1:c.-572-17_-572-16del XP_011521791.1:n.-572-17_-572-16del
NM_001317184.1:c.164-17_164-16del NP_001304113.1:n.164-17_164-16del
NM_001317185.1:c.-1452-17_-1452-16del NP_001304114.1:n.-1452-17_-1452-16del
NM_001317186.1:c.-1656-17_-1656-16del NP_001304115.1:n.-1656-17_-1656-16del
NM_004360.4:c.164-17_164-16del NP_004351.1:n.164-17_164-16del
NM_004360.5:c.164-17_164-16del MANE Select NP_004351.1:n.164-17_164-16del
NM_001317184.2:c.164-17_164-16del NP_001304113.1:n.164-17_164-16del
NM_001317185.2:c.-1452-17_-1452-16del NP_001304114.1:n.-1452-17_-1452-16del
NM_001317186.2:c.-1656-17_-1656-16del NP_001304115.1:n.-1656-17_-1656-16del