Canonical Allele Identifier: CA658683944

Gene: CDH1

Linked Data

• ClinVar Variation Id: 491536
• ClinVar RCV Id: RCV000583014 ; RCV001195168 ; RCV003328430
• dbSNP Id: rs1555515197
• gnomAD v4: 16-68808470-CCT-C
• MyVariant Identifiers: chr16:g.68842377_68842378del (hg19) ; chr16:g.68808474_68808475del (hg38)
• ERepo: CA658683944/MONDO:0007648/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808474_68808475del , CM000678.2:g.68808474_68808475del	GRCh38
NC_000016.9:g.68842377_68842378del , CM000678.1:g.68842377_68842378del	GRCh37
NC_000016.8:g.67399878_67399879del	NCBI36
NG_008021.1:g.76183_76184del , LRG_301:g.76183_76184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.438_439del MANE Select	ENSP00000261769.4:p.Pro147TrpfsTer20
ENST00000261769.9:c.438_439del	ENSP00000261769.4:p.Pro147TrpfsTer20
ENST00000422392.6:c.438_439del	ENSP00000414946.2:p.Pro147TrpfsTer20
ENST00000561751.1:c.205_206del
ENST00000562836.5:n.509_510del
ENST00000564676.5:n.720_721del
ENST00000564745.1:n.433_434del
ENST00000566510.5:c.438_439del	ENSP00000458139.1:p.Pro147TrpfsTer20
ENST00000566612.5:c.438_439del	ENSP00000454782.1:p.Pro147TrpfsTer20
ENST00000611625.4:c.438_439del	ENSP00000481063.1:p.Pro147TrpfsTer20
ENST00000612417.4:c.438_439del	ENSP00000478360.1:p.Pro147TrpfsTer20
ENST00000621016.4:c.438_439del	ENSP00000480664.1:p.Pro147TrpfsTer20
NM_004360.3:c.438_439del , LRG_301t1:c.438_439del	NP_004351.1:p.Pro147TrpfsTer20
XM_011523488.1:c.-298_-297del	XP_011521790.1:n.-298_-297del
XM_011523489.1:c.-298_-297del	XP_011521791.1:n.-298_-297del
NM_001317184.1:c.438_439del	NP_001304113.1:p.Pro147TrpfsTer20
NM_001317185.1:c.-1178_-1177del	NP_001304114.1:n.-1178_-1177del
NM_001317186.1:c.-1382_-1381del	NP_001304115.1:n.-1382_-1381del
NM_004360.4:c.438_439del	NP_004351.1:p.Pro147TrpfsTer20
NM_004360.5:c.438_439del MANE Select	NP_004351.1:p.Pro147TrpfsTer20
NM_001317184.2:c.438_439del	NP_001304113.1:p.Pro147TrpfsTer20
NM_001317185.2:c.-1178_-1177del	NP_001304114.1:n.-1178_-1177del
NM_001317186.2:c.-1382_-1381del	NP_001304115.1:n.-1382_-1381del