Canonical Allele Identifier: CA623137053

Gene: CDH1

Linked Data

• dbSNP Id: rs1239836338
• gnomAD v2: 16-68852770-A-AAAAG
• gnomAD v3: 16-68818867-A-AAAAG
• gnomAD v4: 16-68818867-A-AAAAG
• MyVariant Identifiers: chr16:g.68852770_68852771insAAAG (hg19) ; chr16:g.68818867_68818868insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68818876_68818879dup , CM000678.2:g.68818876_68818879dup	GRCh38
NC_000016.9:g.68852779_68852782dup , CM000678.1:g.68852779_68852782dup	GRCh37
NC_000016.8:g.67410280_67410283dup	NCBI36
NG_008021.1:g.86585_86588dup , LRG_301:g.86585_86588dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1566-404_1566-401dup MANE Select	ENSP00000261769.4:n.1566-404_1566-401dup
ENST00000261769.9:c.1566-404_1566-401dup	ENSP00000261769.4:n.1566-404_1566-401dup
ENST00000422392.6:c.1383-404_1383-401dup	ENSP00000414946.2:n.1383-404_1383-401dup
ENST00000562836.5:n.1637-404_1637-401dup
ENST00000566510.5:c.*232-404_*232-401dup	ENSP00000458139.1:n.*232-404_*232-401dup
ENST00000566612.5:c.1565+3117_1565+3120dup	ENSP00000454782.1:n.1565+3117_1565+3120dup
ENST00000611625.4:c.1629-404_1629-401dup	ENSP00000481063.1:n.1629-404_1629-401dup
ENST00000612417.4:c.1566-404_1566-401dup	ENSP00000478360.1:n.1566-404_1566-401dup
ENST00000621016.4:c.1566-404_1566-401dup	ENSP00000480664.1:n.1566-404_1566-401dup
NM_004360.3:c.1566-404_1566-401dup , LRG_301t1:c.1566-404_1566-401dup	NP_004351.1:n.1566-404_1566-401dup
XM_011523488.1:c.831-404_831-401dup	XP_011521790.1:n.831-404_831-401dup
XM_011523489.1:c.831-404_831-401dup	XP_011521791.1:n.831-404_831-401dup
NM_001317184.1:c.1383-404_1383-401dup	NP_001304113.1:n.1383-404_1383-401dup
NM_001317185.1:c.18-404_18-401dup	NP_001304114.1:n.18-404_18-401dup
NM_001317186.1:c.-255+3117_-255+3120dup	NP_001304115.1:n.-255+3117_-255+3120dup
NM_004360.4:c.1566-404_1566-401dup	NP_004351.1:n.1566-404_1566-401dup
NM_004360.5:c.1566-404_1566-401dup MANE Select	NP_004351.1:n.1566-404_1566-401dup
NM_001317184.2:c.1383-404_1383-401dup	NP_001304113.1:n.1383-404_1383-401dup
NM_001317185.2:c.18-404_18-401dup	NP_001304114.1:n.18-404_18-401dup
NM_001317186.2:c.-255+3117_-255+3120dup	NP_001304115.1:n.-255+3117_-255+3120dup