Canonical Allele Identifier: CA2573152615

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1368108
• ClinVar RCV Id: RCV001894558
• dbSNP Id: rs2152138523

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822178_68822181del , CM000678.2:g.68822178_68822181del	GRCh38
NC_000016.9:g.68856081_68856084del , CM000678.1:g.68856081_68856084del	GRCh37
NC_000016.8:g.67413582_67413585del	NCBI36
NG_008021.1:g.89887_89890del , LRG_301:g.89887_89890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1889_1892del MANE Select	ENSP00000261769.4:p.Leu630HisfsTer22
ENST00000261769.9:c.1889_1892del	ENSP00000261769.4:p.Leu630HisfsTer22
ENST00000422392.6:c.1706_1709del	ENSP00000414946.2:p.Leu569HisfsTer22
ENST00000562836.5:n.1960_1963del
ENST00000566510.5:c.*555_*558del	ENSP00000458139.1:n.*555_*558del
ENST00000566612.5:c.*129_*132del	ENSP00000454782.1:n.*129_*132del
ENST00000611625.4:c.1952_1955del	ENSP00000481063.1:p.Leu651HisfsTer22
ENST00000612417.4:c.1830+59_1830+62del	ENSP00000478360.1:n.1830+59_1830+62del
ENST00000621016.4:c.1865+24_1865+27del	ENSP00000480664.1:n.1865+24_1865+27del
NM_004360.3:c.1889_1892del , LRG_301t1:c.1889_1892del	NP_004351.1:p.Leu630HisfsTer22
XM_011523488.1:c.1154_1157del	XP_011521790.1:p.Leu385HisfsTer22
XM_011523489.1:c.1154_1157del	XP_011521791.1:p.Leu385HisfsTer22
NM_001317184.1:c.1706_1709del	NP_001304113.1:p.Leu569HisfsTer22
NM_001317185.1:c.341_344del	NP_001304114.1:p.Leu114HisfsTer22
NM_001317186.1:c.-77_-74del	NP_001304115.1:n.-77_-74del
NM_004360.4:c.1889_1892del	NP_004351.1:p.Leu630HisfsTer22
NM_004360.5:c.1889_1892del MANE Select	NP_004351.1:p.Leu630HisfsTer22
NM_001317184.2:c.1706_1709del	NP_001304113.1:p.Leu569HisfsTer22
NM_001317185.2:c.341_344del	NP_001304114.1:p.Leu114HisfsTer22
NM_001317186.2:c.-77_-74del	NP_001304115.1:n.-77_-74del