Canonical Allele Identifier: CA283312702

Gene: CDH1

Linked Data

• dbSNP Id: rs967059144
• gnomAD v3: 16-68823096-C-CG
• gnomAD v4: 16-68823096-C-CG
• MyVariant Identifiers: chr16:g.68856999_68857000insG (hg19) ; chr16:g.68823096_68823097insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823099dup , CM000678.2:g.68823099dup	GRCh38
NC_000016.9:g.68857002dup , CM000678.1:g.68857002dup	GRCh37
NC_000016.8:g.67414503dup	NCBI36
NG_008021.1:g.90808dup , LRG_301:g.90808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1937-300dup MANE Select	ENSP00000261769.4:n.1937-300dup
ENST00000261769.9:c.1937-300dup	ENSP00000261769.4:n.1937-300dup
ENST00000422392.6:c.1754-300dup	ENSP00000414946.2:n.1754-300dup
ENST00000562836.5:n.2008-300dup
ENST00000566510.5:c.*603-300dup	ENSP00000458139.1:n.*603-300dup
ENST00000566612.5:c.*177-300dup	ENSP00000454782.1:n.*177-300dup
ENST00000611625.4:c.2000-300dup	ENSP00000481063.1:n.2000-300dup
ENST00000612417.4:c.1830+980dup	ENSP00000478360.1:n.1830+980dup
ENST00000621016.4:c.1865+945dup	ENSP00000480664.1:n.1865+945dup
NM_004360.3:c.1937-300dup , LRG_301t1:c.1937-300dup	NP_004351.1:n.1937-300dup
XM_011523488.1:c.1202-300dup	XP_011521790.1:n.1202-300dup
XM_011523489.1:c.1202-300dup	XP_011521791.1:n.1202-300dup
NM_001317184.1:c.1754-300dup	NP_001304113.1:n.1754-300dup
NM_001317185.1:c.389-300dup	NP_001304114.1:n.389-300dup
NM_001317186.1:c.-29-300dup	NP_001304115.1:n.-29-300dup
NM_004360.4:c.1937-300dup	NP_004351.1:n.1937-300dup
NM_004360.5:c.1937-300dup MANE Select	NP_004351.1:n.1937-300dup
NM_001317184.2:c.1754-300dup	NP_001304113.1:n.1754-300dup
NM_001317185.2:c.389-300dup	NP_001304114.1:n.389-300dup
NM_001317186.2:c.-29-300dup	NP_001304115.1:n.-29-300dup