Canonical Allele Identifier: CA8130125
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 532498
ClinVar RCV Id: RCV000639325 RCV001184536
dbSNP Id: rs762825233
ExAC: 16:68853332 A / AGGG
gnomAD v2: 16-68853332-A-AGGG
gnomAD v4: 16-68819429-A-AGGG
MyVariant Identifiers: chr16:g.68853335_68853337dup (hg19) chr16:g.68853332_68853333insGGG (hg19) chr16:g.68819432_68819434dup (hg38) chr16:g.68819429_68819430insGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819432_68819434dup , CM000678.2:g.68819432_68819434dup GRCh38
NC_000016.9:g.68853335_68853337dup , CM000678.1:g.68853335_68853337dup GRCh37
NC_000016.8:g.67410836_67410838dup NCBI36
NG_008021.1:g.87141_87143dup , LRG_301:g.87141_87143dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1711+7_1711+9dup MANE Select ENSP00000261769.4:n.1711+7_1711+9dup
ENST00000261769.9:c.1711+7_1711+9dup ENSP00000261769.4:n.1711+7_1711+9dup
ENST00000422392.6:c.1528+7_1528+9dup ENSP00000414946.2:n.1528+7_1528+9dup
ENST00000562836.5:n.1782+7_1782+9dup
ENST00000566510.5:c.*377+7_*377+9dup ENSP00000458139.1:n.*377+7_*377+9dup
ENST00000566612.5:c.1566-2569_1566-2567dup ENSP00000454782.1:n.1566-2569_1566-2567dup
ENST00000611625.4:c.1774+7_1774+9dup ENSP00000481063.1:n.1774+7_1774+9dup
ENST00000612417.4:c.1711+7_1711+9dup ENSP00000478360.1:n.1711+7_1711+9dup
ENST00000621016.4:c.1711+7_1711+9dup ENSP00000480664.1:n.1711+7_1711+9dup
NM_004360.3:c.1711+7_1711+9dup , LRG_301t1:c.1711+7_1711+9dup NP_004351.1:n.1711+7_1711+9dup
XM_011523488.1:c.976+7_976+9dup XP_011521790.1:n.976+7_976+9dup
XM_011523489.1:c.976+7_976+9dup XP_011521791.1:n.976+7_976+9dup
NM_001317184.1:c.1528+7_1528+9dup NP_001304113.1:n.1528+7_1528+9dup
NM_001317185.1:c.163+7_163+9dup NP_001304114.1:n.163+7_163+9dup
NM_001317186.1:c.-254-2569_-254-2567dup NP_001304115.1:n.-254-2569_-254-2567dup
NM_004360.4:c.1711+7_1711+9dup NP_004351.1:n.1711+7_1711+9dup
NM_004360.5:c.1711+7_1711+9dup MANE Select NP_004351.1:n.1711+7_1711+9dup
NM_001317184.2:c.1528+7_1528+9dup NP_001304113.1:n.1528+7_1528+9dup
NM_001317185.2:c.163+7_163+9dup NP_001304114.1:n.163+7_163+9dup
NM_001317186.2:c.-254-2569_-254-2567dup NP_001304115.1:n.-254-2569_-254-2567dup
Search 100 bp 5'
Search 100 bp 3'