Canonical Allele Identifier: CA915949311

Gene: CDH1

Linked Data

• ClinVar Variation Id: 655990
• ClinVar RCV Id: RCV000812284
• dbSNP Id: rs1597897917

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815591_68815603delinsAAA , CM000678.2:g.68815591_68815603delinsAAA	GRCh38
NC_000016.9:g.68849494_68849506delinsAAA , CM000678.1:g.68849494_68849506delinsAAA	GRCh37
NC_000016.8:g.67406995_67407007delinsAAA	NCBI36
NG_008021.1:g.83300_83312delinsAAA , LRG_301:g.83300_83312delinsAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1397_1409delinsAAA MANE Select	ENSP00000261769.4:p.Leu466GlnfsTer12
ENST00000261769.9:c.1397_1409delinsAAA	ENSP00000261769.4:p.Leu466GlnfsTer12
ENST00000422392.6:c.1214_1226delinsAAA	ENSP00000414946.2:p.Leu405GlnfsTer12
ENST00000562836.5:n.1468_1480delinsAAA
ENST00000566510.5:c.*63_*75delinsAAA	ENSP00000458139.1:n.*63_*75delinsAAA
ENST00000566612.5:c.1397_1409delinsAAA	ENSP00000454782.1:p.Leu466GlnfsTer12
ENST00000611625.4:c.1460_1472delinsAAA	ENSP00000481063.1:p.Leu487GlnfsTer12
ENST00000612417.4:c.1397_1409delinsAAA	ENSP00000478360.1:p.Leu466GlnfsTer12
ENST00000621016.4:c.1397_1409delinsAAA	ENSP00000480664.1:p.Leu466GlnfsTer12
NM_004360.3:c.1397_1409delinsAAA , LRG_301t1:c.1397_1409delinsAAA	NP_004351.1:p.Leu466GlnfsTer12
XM_011523488.1:c.662_674delinsAAA	XP_011521790.1:p.Leu221GlnfsTer12
XM_011523489.1:c.662_674delinsAAA	XP_011521791.1:p.Leu221GlnfsTer12
NM_001317184.1:c.1214_1226delinsAAA	NP_001304113.1:p.Leu405GlnfsTer12
NM_001317185.1:c.-152_-140delinsAAA	NP_001304114.1:n.-152_-140delinsAAA
NM_001317186.1:c.-423_-411delinsAAA	NP_001304115.1:n.-423_-411delinsAAA
NM_004360.4:c.1397_1409delinsAAA	NP_004351.1:p.Leu466GlnfsTer12
NM_004360.5:c.1397_1409delinsAAA MANE Select	NP_004351.1:p.Leu466GlnfsTer12
NM_001317184.2:c.1214_1226delinsAAA	NP_001304113.1:p.Leu405GlnfsTer12
NM_001317185.2:c.-152_-140delinsAAA	NP_001304114.1:n.-152_-140delinsAAA
NM_001317186.2:c.-423_-411delinsAAA	NP_001304115.1:n.-423_-411delinsAAA