Canonical Allele Identifier: CA168579

Gene: CDH1

Linked Data

• ClinVar Variation Id: 142518
• ClinVar RCV Id: RCV000131671
• dbSNP Id: rs587782517
• MyVariant Identifiers: chr16:g.68855993_68855995del (hg19) ; chr16:g.68822090_68822092del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822094_68822096del , CM000678.2:g.68822094_68822096del	GRCh38
NC_000016.9:g.68855997_68855999del , CM000678.1:g.68855997_68855999del	GRCh37
NC_000016.8:g.67413498_67413500del	NCBI36
NG_008021.1:g.89803_89805del , LRG_301:g.89803_89805del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1805_1807del MANE Select	ENSP00000261769.4:p.Phe602del
ENST00000261769.9:c.1805_1807del	ENSP00000261769.4:p.Phe602del
ENST00000422392.6:c.1622_1624del	ENSP00000414946.2:p.Phe541del
ENST00000562836.5:n.1876_1878del
ENST00000566510.5:c.*471_*473del	ENSP00000458139.1:n.*471_*473del
ENST00000566612.5:c.*45_*47del	ENSP00000454782.1:n.*45_*47del
ENST00000611625.4:c.1868_1870del	ENSP00000481063.1:p.Phe623del
ENST00000612417.4:c.1805_1807del	ENSP00000478360.1:p.Phe602del
ENST00000621016.4:c.1805_1807del	ENSP00000480664.1:p.Phe602del
NM_004360.3:c.1805_1807del , LRG_301t1:c.1805_1807del	NP_004351.1:p.Phe602del
XM_011523488.1:c.1070_1072del	XP_011521790.1:p.Phe357del
XM_011523489.1:c.1070_1072del	XP_011521791.1:p.Phe357del
NM_001317184.1:c.1622_1624del	NP_001304113.1:p.Phe541del
NM_001317185.1:c.257_259del	NP_001304114.1:p.Phe86del
NM_001317186.1:c.-161_-159del	NP_001304115.1:n.-161_-159del
NM_004360.4:c.1805_1807del	NP_004351.1:p.Phe602del
NM_004360.5:c.1805_1807del MANE Select	NP_004351.1:p.Phe602del
NM_001317184.2:c.1622_1624del	NP_001304113.1:p.Phe541del
NM_001317185.2:c.257_259del	NP_001304114.1:p.Phe86del
NM_001317186.2:c.-161_-159del	NP_001304115.1:n.-161_-159del