Canonical Allele Identifier: CA298944

Gene: CDH1

Linked Data

• ClinVar Variation Id: 182378
• ClinVar RCV Id: RCV000160370 ; RCV000411912 ; RCV001354450 ; RCV002505193
• dbSNP Id: rs730881655
• gnomAD v2: 16-68771380-CCT-C
• gnomAD v3: 16-68737477-CCT-C
• gnomAD v4: 16-68737477-CCT-C
• MyVariant Identifiers: chr16:g.68771381_68771382del (hg19) ; chr16:g.68737478_68737479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68737478_68737479del , CM000678.2:g.68737478_68737479del	GRCh38
NC_000016.9:g.68771381_68771382del , CM000678.1:g.68771381_68771382del	GRCh37
NC_000016.8:g.67328882_67328883del	NCBI36
NG_008021.1:g.5187_5188del , LRG_301:g.5187_5188del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.48+15_48+16del MANE Select	ENSP00000261769.4:n.48+15_48+16del
ENST00000261769.9:c.48+15_48+16del	ENSP00000261769.4:n.48+15_48+16del
ENST00000422392.6:c.48+15_48+16del	ENSP00000414946.2:n.48+15_48+16del
ENST00000566510.5:c.48+15_48+16del	ENSP00000458139.1:n.48+15_48+16del
ENST00000566612.5:c.48+15_48+16del	ENSP00000454782.1:n.48+15_48+16del
ENST00000611625.4:c.48+15_48+16del	ENSP00000481063.1:n.48+15_48+16del
ENST00000612417.4:c.48+15_48+16del	ENSP00000478360.1:n.48+15_48+16del
ENST00000621016.4:c.48+15_48+16del	ENSP00000480664.1:n.48+15_48+16del
NM_004360.3:c.48+15_48+16del , LRG_301t1:c.48+15_48+16del	NP_004351.1:n.48+15_48+16del
NM_001317184.1:c.48+15_48+16del	NP_001304113.1:n.48+15_48+16del
NM_001317185.1:c.-1568+15_-1568+16del	NP_001304114.1:n.-1568+15_-1568+16del
NM_001317186.1:c.-1772+15_-1772+16del	NP_001304115.1:n.-1772+15_-1772+16del
NM_004360.4:c.48+15_48+16del	NP_004351.1:n.48+15_48+16del
NM_004360.5:c.48+15_48+16del MANE Select	NP_004351.1:n.48+15_48+16del
NM_001317184.2:c.48+15_48+16del	NP_001304113.1:n.48+15_48+16del
NM_001317185.2:c.-1568+15_-1568+16del	NP_001304114.1:n.-1568+15_-1568+16del
NM_001317186.2:c.-1772+15_-1772+16del	NP_001304115.1:n.-1772+15_-1772+16del