Canonical Allele Identifier: CA645369679

Gene: CDH1

Linked Data

• ClinVar Variation Id: 428631
• ClinVar RCV Id: RCV000492558 ; RCV000663083 ; RCV001556341 ; RCV003328379
• dbSNP Id: rs1131690819
• MyVariant Identifiers: chr16:g.68844132del (hg19) ; chr16:g.68810229del (hg38)
• ERepo: CA645369679/MONDO:0007648/007 ; CA645369679/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810229del , CM000678.2:g.68810229del	GRCh38
NC_000016.9:g.68844132del , CM000678.1:g.68844132del	GRCh37
NC_000016.8:g.67401633del	NCBI36
NG_008021.1:g.77938del , LRG_301:g.77938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.720del MANE Select	ENSP00000261769.4:p.Asn240LysfsTer10
ENST00000261769.9:c.720del	ENSP00000261769.4:p.Asn240LysfsTer10
ENST00000422392.6:c.720del	ENSP00000414946.2:p.Asn240LysfsTer10
ENST00000561751.1:c.454+1381del
ENST00000562836.5:n.791del
ENST00000566510.5:c.564del	ENSP00000458139.1:p.Asn188LysfsTer10
ENST00000566612.5:c.720del	ENSP00000454782.1:p.Asn240LysfsTer10
ENST00000611625.4:c.720del	ENSP00000481063.1:p.Asn240LysfsTer10
ENST00000612417.4:c.720del	ENSP00000478360.1:p.Asn240LysfsTer10
ENST00000621016.4:c.720del	ENSP00000480664.1:p.Asn240LysfsTer10
NM_004360.3:c.720del , LRG_301t1:c.720del	NP_004351.1:p.Asn240LysfsTer10
XM_011523488.1:c.-16del	XP_011521790.1:n.-16del
XM_011523489.1:c.-16del	XP_011521791.1:n.-16del
NM_001317184.1:c.720del	NP_001304113.1:p.Asn240LysfsTer10
NM_001317185.1:c.-896del	NP_001304114.1:n.-896del
NM_001317186.1:c.-1100del	NP_001304115.1:n.-1100del
NM_004360.4:c.720del	NP_004351.1:p.Asn240LysfsTer10
NM_004360.5:c.720del MANE Select	NP_004351.1:p.Asn240LysfsTer10
NM_001317184.2:c.720del	NP_001304113.1:p.Asn240LysfsTer10
NM_001317185.2:c.-896del	NP_001304114.1:n.-896del
NM_001317186.2:c.-1100del	NP_001304115.1:n.-1100del