Canonical Allele Identifier: CA157945

Gene: CDH1

Linked Data

• ClinVar Variation Id: 133844
• ClinVar RCV Id: RCV000120496
• dbSNP Id: rs587778169
• MyVariant Identifiers: chr16:g.68771342_68771343delinsGC (hg19) ; chr16:g.68737439_68737440delinsGC (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68737439_68737440delinsGC , CM000678.2:g.68737439_68737440delinsGC	GRCh38
NC_000016.9:g.68771342_68771343delinsGC , CM000678.1:g.68771342_68771343delinsGC	GRCh37
NC_000016.8:g.67328843_67328844delinsGC	NCBI36
NG_008021.1:g.5148_5149delinsGC , LRG_301:g.5148_5149delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.24_25delinsGC MANE Select	ENSP00000261769.4:p.Ser9Pro
ENST00000261769.9:c.24_25delinsGC	ENSP00000261769.4:p.Ser9Pro
ENST00000422392.6:c.24_25delinsGC	ENSP00000414946.2:p.Ser9Pro
ENST00000566510.5:c.24_25delinsGC	ENSP00000458139.1:p.Ser9Pro
ENST00000566612.5:c.24_25delinsGC	ENSP00000454782.1:p.Ser9Pro
ENST00000611625.4:c.24_25delinsGC	ENSP00000481063.1:p.Ser9Pro
ENST00000612417.4:c.24_25delinsGC	ENSP00000478360.1:p.Ser9Pro
ENST00000621016.4:c.24_25delinsGC	ENSP00000480664.1:p.Ser9Pro
NM_004360.3:c.24_25delinsGC , LRG_301t1:c.24_25delinsGC	NP_004351.1:p.Ser9Pro
NM_001317184.1:c.24_25delinsGC	NP_001304113.1:p.Ser9Pro
NM_001317185.1:c.-1592_-1591delinsGC	NP_001304114.1:n.-1592_-1591delinsGC
NM_001317186.1:c.-1796_-1795delinsGC	NP_001304115.1:n.-1796_-1795delinsGC
NM_004360.4:c.24_25delinsGC	NP_004351.1:p.Ser9Pro
NM_004360.5:c.24_25delinsGC MANE Select	NP_004351.1:p.Ser9Pro
NM_001317184.2:c.24_25delinsGC	NP_001304113.1:p.Ser9Pro
NM_001317185.2:c.-1592_-1591delinsGC	NP_001304114.1:n.-1592_-1591delinsGC
NM_001317186.2:c.-1796_-1795delinsGC	NP_001304115.1:n.-1796_-1795delinsGC