Canonical Allele Identifier: CA16615415

Gene: CDH1

Linked Data

• ClinVar Variation Id: 406669
• ClinVar RCV Id: RCV000464624 ; RCV002451095 ; RCV003328351
• dbSNP Id: rs1060501248
• COSMIC: COSM1180831
• MyVariant Identifiers: chr16:g.68863585del (hg19) ; chr16:g.68863582del (hg19) ; chr16:g.68829682del (hg38)
• ERepo: CA16615415/MONDO:0007648/007 ; CA16615415/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829682del , CM000678.2:g.68829682del	GRCh38
NC_000016.9:g.68863585del , CM000678.1:g.68863585del	GRCh37
NC_000016.8:g.67421086del	NCBI36
NG_008021.1:g.97391del , LRG_301:g.97391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2324del MANE Select	ENSP00000261769.4:p.Gly775AlafsTer8
ENST00000261769.9:c.2324del	ENSP00000261769.4:p.Gly775AlafsTer8
ENST00000422392.6:c.2141del	ENSP00000414946.2:p.Gly714AlafsTer8
ENST00000562118.1:n.542del
ENST00000562836.5:n.2395del
ENST00000566510.5:c.*990del	ENSP00000458139.1:n.*990del
ENST00000566612.5:c.*564del	ENSP00000454782.1:n.*564del
ENST00000611625.4:c.2387del	ENSP00000481063.1:p.Gly796AlafsTer8
ENST00000612417.4:c.1853+3128del	ENSP00000478360.1:n.1853+3128del
ENST00000621016.4:c.1866-4521del	ENSP00000480664.1:n.1866-4521del
NM_004360.3:c.2324del , LRG_301t1:c.2324del	NP_004351.1:p.Gly775AlafsTer8
XM_011523488.1:c.1589del	XP_011521790.1:p.Gly530AlafsTer8
XM_011523489.1:c.1589del	XP_011521791.1:p.Gly530AlafsTer8
NM_001317184.1:c.2141del	NP_001304113.1:p.Gly714AlafsTer8
NM_001317185.1:c.776del	NP_001304114.1:p.Gly259AlafsTer8
NM_001317186.1:c.359del	NP_001304115.1:p.Gly120AlafsTer8
NM_004360.4:c.2324del	NP_004351.1:p.Gly775AlafsTer8
NM_004360.5:c.2324del MANE Select	NP_004351.1:p.Gly775AlafsTer8
NM_001317184.2:c.2141del	NP_001304113.1:p.Gly714AlafsTer8
NM_001317185.2:c.776del	NP_001304114.1:p.Gly259AlafsTer8
NM_001317186.2:c.359del	NP_001304115.1:p.Gly120AlafsTer8