Canonical Allele Identifier: CA2582342551

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2583721
• ClinVar RCV Id: RCV003334643

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801753delinsGTGTGG , CM000678.2:g.68801753delinsGTGTGG	GRCh38
NC_000016.9:g.68835656delinsGTGTGG , CM000678.1:g.68835656delinsGTGTGG	GRCh37
NC_000016.8:g.67393157delinsGTGTGG	NCBI36
NG_008021.1:g.69462delinsGTGTGG , LRG_301:g.69462delinsGTGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.247delinsGTGTGG MANE Select	ENSP00000261769.4:p.Ile83ValfsTer?
ENST00000261769.9:c.247delinsGTGTGG	ENSP00000261769.4:p.Ile83ValfsTer?
ENST00000422392.6:c.247delinsGTGTGG	ENSP00000414946.2:p.Ile83ValfsTer?
ENST00000561751.1:c.14delinsGTGTGG
ENST00000562836.5:n.318delinsGTGTGG
ENST00000564676.5:n.529delinsGTGTGG
ENST00000564745.1:n.242delinsGTGTGG
ENST00000566510.5:c.247delinsGTGTGG	ENSP00000458139.1:p.Ile83ValfsTer?
ENST00000566612.5:c.247delinsGTGTGG	ENSP00000454782.1:p.Ile83ValfsTer?
ENST00000611625.4:c.247delinsGTGTGG	ENSP00000481063.1:p.Ile83ValfsTer?
ENST00000612417.4:c.247delinsGTGTGG	ENSP00000478360.1:p.Ile83ValfsTer?
ENST00000621016.4:c.247delinsGTGTGG	ENSP00000480664.1:p.Ile83ValfsTer?
NM_004360.3:c.247delinsGTGTGG , LRG_301t1:c.247delinsGTGTGG	NP_004351.1:p.Ile83ValfsTer?
XM_011523488.1:c.-489delinsGTGTGG	XP_011521790.1:n.-489delinsGTGTGG
XM_011523489.1:c.-489delinsGTGTGG	XP_011521791.1:n.-489delinsGTGTGG
NM_001317184.1:c.247delinsGTGTGG	NP_001304113.1:p.Ile83ValfsTer?
NM_001317185.1:c.-1369delinsGTGTGG	NP_001304114.1:n.-1369delinsGTGTGG
NM_001317186.1:c.-1573delinsGTGTGG	NP_001304115.1:n.-1573delinsGTGTGG
NM_004360.4:c.247delinsGTGTGG	NP_004351.1:p.Ile83ValfsTer?
NM_004360.5:c.247delinsGTGTGG MANE Select	NP_004351.1:p.Ile83ValfsTer?
NM_001317184.2:c.247delinsGTGTGG	NP_001304113.1:p.Ile83ValfsTer?
NM_001317185.2:c.-1369delinsGTGTGG	NP_001304114.1:n.-1369delinsGTGTGG
NM_001317186.2:c.-1573delinsGTGTGG	NP_001304115.1:n.-1573delinsGTGTGG