Canonical Allele Identifier: CA2580612822

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2502937
• ClinVar RCV Id: RCV003229671

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68737460_68737461insT , CM000678.2:g.68737460_68737461insT	GRCh38
NC_000016.9:g.68771363_68771364insT , CM000678.1:g.68771363_68771364insT	GRCh37
NC_000016.8:g.67328864_67328865insT	NCBI36
NG_008021.1:g.5169_5170insT , LRG_301:g.5169_5170insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.45_46insT MANE Select	ENSP00000261769.4:p.Gln16SerfsTer18
ENST00000261769.9:c.45_46insT	ENSP00000261769.4:p.Gln16SerfsTer18
ENST00000422392.6:c.45_46insT	ENSP00000414946.2:p.Gln16SerfsTer18
ENST00000566510.5:c.45_46insT	ENSP00000458139.1:p.Gln16SerfsTer18
ENST00000566612.5:c.45_46insT	ENSP00000454782.1:p.Gln16SerfsTer18
ENST00000611625.4:c.45_46insT	ENSP00000481063.1:p.Gln16SerfsTer18
ENST00000612417.4:c.45_46insT	ENSP00000478360.1:p.Gln16SerfsTer18
ENST00000621016.4:c.45_46insT	ENSP00000480664.1:p.Gln16SerfsTer18
NM_004360.3:c.45_46insT , LRG_301t1:c.45_46insT	NP_004351.1:p.Gln16SerfsTer18
NM_001317184.1:c.45_46insT	NP_001304113.1:p.Gln16SerfsTer18
NM_001317185.1:c.-1571_-1570insT	NP_001304114.1:n.-1571_-1570insT
NM_001317186.1:c.-1775_-1774insT	NP_001304115.1:n.-1775_-1774insT
NM_004360.4:c.45_46insT	NP_004351.1:p.Gln16SerfsTer18
NM_004360.5:c.45_46insT MANE Select	NP_004351.1:p.Gln16SerfsTer18
NM_001317184.2:c.45_46insT	NP_001304113.1:p.Gln16SerfsTer18
NM_001317185.2:c.-1571_-1570insT	NP_001304114.1:n.-1571_-1570insT
NM_001317186.2:c.-1775_-1774insT	NP_001304115.1:n.-1775_-1774insT