Canonical Allele Identifier: CA2580612831

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2503029
• ClinVar RCV Id: RCV003229763

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801787_68801789delinsGT , CM000678.2:g.68801787_68801789delinsGT	GRCh38
NC_000016.9:g.68835690_68835692delinsGT , CM000678.1:g.68835690_68835692delinsGT	GRCh37
NC_000016.8:g.67393191_67393193delinsGT	NCBI36
NG_008021.1:g.69496_69498delinsGT , LRG_301:g.69496_69498delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.281_283delinsGT MANE Select	ENSP00000261769.4:p.Pro94ArgfsTer23
ENST00000261769.9:c.281_283delinsGT	ENSP00000261769.4:p.Pro94ArgfsTer23
ENST00000422392.6:c.281_283delinsGT	ENSP00000414946.2:p.Pro94ArgfsTer23
ENST00000561751.1:c.48_50delinsGT
ENST00000562836.5:n.352_354delinsGT
ENST00000564676.5:n.563_565delinsGT
ENST00000564745.1:n.276_278delinsGT
ENST00000566510.5:c.281_283delinsGT	ENSP00000458139.1:p.Pro94ArgfsTer23
ENST00000566612.5:c.281_283delinsGT	ENSP00000454782.1:p.Pro94ArgfsTer23
ENST00000611625.4:c.281_283delinsGT	ENSP00000481063.1:p.Pro94ArgfsTer23
ENST00000612417.4:c.281_283delinsGT	ENSP00000478360.1:p.Pro94ArgfsTer23
ENST00000621016.4:c.281_283delinsGT	ENSP00000480664.1:p.Pro94ArgfsTer23
NM_004360.3:c.281_283delinsGT , LRG_301t1:c.281_283delinsGT	NP_004351.1:p.Pro94ArgfsTer23
XM_011523488.1:c.-455_-453delinsGT	XP_011521790.1:n.-455_-453delinsGT
XM_011523489.1:c.-455_-453delinsGT	XP_011521791.1:n.-455_-453delinsGT
NM_001317184.1:c.281_283delinsGT	NP_001304113.1:p.Pro94ArgfsTer23
NM_001317185.1:c.-1335_-1333delinsGT	NP_001304114.1:n.-1335_-1333delinsGT
NM_001317186.1:c.-1539_-1537delinsGT	NP_001304115.1:n.-1539_-1537delinsGT
NM_004360.4:c.281_283delinsGT	NP_004351.1:p.Pro94ArgfsTer23
NM_004360.5:c.281_283delinsGT MANE Select	NP_004351.1:p.Pro94ArgfsTer23
NM_001317184.2:c.281_283delinsGT	NP_001304113.1:p.Pro94ArgfsTer23
NM_001317185.2:c.-1335_-1333delinsGT	NP_001304114.1:n.-1335_-1333delinsGT
NM_001317186.2:c.-1539_-1537delinsGT	NP_001304115.1:n.-1539_-1537delinsGT