Canonical Allele Identifier: CA2580612830
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503007
ClinVar RCV Id: RCV003229741

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68832894_68833722del , CM000678.2:g.68832894_68833722del GRCh38
NC_000016.9:g.68866797_68867625del , CM000678.1:g.68866797_68867625del GRCh37
NC_000016.8:g.67424298_67425126del NCBI36
NG_008021.1:g.100603_101431del , LRG_301:g.100603_101431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2440-396_*223del
ENST00000261769.9:c.2440-396_*223del
ENST00000566612.5:c.*680-396_*1112del
ENST00000611625.4:c.2503-396_*223del
ENST00000612417.4:c.1854-1297_1854-469del ENSP00000478360.1:n.1854-1297_1854-469del
ENST00000621016.4:c.1866-1309_1866-481del ENSP00000480664.1:n.1866-1309_1866-481del
NM_004360.3:c.2440-396_*223del , LRG_301t1:c.2440-396_*223del
XM_011523488.1:c.1705-396_*223del
XM_011523489.1:c.1705-396_*223del
NM_001317184.1:c.2257-396_*223del
NM_001317185.1:c.892-396_*223del
NM_001317186.1:c.475-396_*223del
NM_004360.4:c.2440-396_*223del
NM_004360.5:c.2440-396_*223del
NM_001317184.2:c.2257-396_*223del
NM_001317185.2:c.892-396_*223del
NM_001317186.2:c.475-396_*223del