Canonical Allele Identifier: CA2573152660

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1692796
• ClinVar RCV Id: RCV002259259
• dbSNP Id: rs786203752

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829788dup , CM000678.2:g.68829788dup	GRCh38
NC_000016.9:g.68863691dup , CM000678.1:g.68863691dup	GRCh37
NC_000016.8:g.67421192dup	NCBI36
NG_008021.1:g.97497dup , LRG_301:g.97497dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2430dup MANE Select	ENSP00000261769.4:p.Ile811TyrfsTer2
ENST00000261769.9:c.2430dup	ENSP00000261769.4:p.Ile811TyrfsTer2
ENST00000422392.6:c.2247dup	ENSP00000414946.2:p.Ile750TyrfsTer2
ENST00000562118.1:n.648dup
ENST00000562836.5:n.2501dup
ENST00000566510.5:c.*1096dup	ENSP00000458139.1:n.*1096dup
ENST00000566612.5:c.*670dup	ENSP00000454782.1:n.*670dup
ENST00000611625.4:c.2493dup	ENSP00000481063.1:p.Ile832TyrfsTer2
ENST00000612417.4:c.1853+3234dup	ENSP00000478360.1:n.1853+3234dup
ENST00000621016.4:c.1866-4415dup	ENSP00000480664.1:n.1866-4415dup
NM_004360.3:c.2430dup , LRG_301t1:c.2430dup	NP_004351.1:p.Ile811TyrfsTer2
XM_011523488.1:c.1695dup	XP_011521790.1:p.Ile566TyrfsTer2
XM_011523489.1:c.1695dup	XP_011521791.1:p.Ile566TyrfsTer2
NM_001317184.1:c.2247dup	NP_001304113.1:p.Ile750TyrfsTer2
NM_001317185.1:c.882dup	NP_001304114.1:p.Ile295TyrfsTer2
NM_001317186.1:c.465dup	NP_001304115.1:p.Ile156TyrfsTer2
NM_004360.4:c.2430dup	NP_004351.1:p.Ile811TyrfsTer2
NM_004360.5:c.2430dup MANE Select	NP_004351.1:p.Ile811TyrfsTer2
NM_001317184.2:c.2247dup	NP_001304113.1:p.Ile750TyrfsTer2
NM_001317185.2:c.882dup	NP_001304114.1:p.Ile295TyrfsTer2
NM_001317186.2:c.465dup	NP_001304115.1:p.Ile156TyrfsTer2