Canonical Allele Identifier: CA8130290

Gene: CDH1

Linked Data

• dbSNP Id: rs757510491
• ExAC: 16:68867172 C / CT
• gnomAD v2: 16-68867172-C-CT
• gnomAD v4: 16-68833269-C-CT
• MyVariant Identifiers: chr16:g.68867172_68867173insT (hg19) ; chr16:g.68833269_68833270insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833273dup , CM000678.2:g.68833273dup	GRCh38
NC_000016.9:g.68867176dup , CM000678.1:g.68867176dup	GRCh37
NC_000016.8:g.67424677dup	NCBI36
NG_008021.1:g.100982dup , LRG_301:g.100982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2440-17dup MANE Select	ENSP00000261769.4:n.2440-17dup
ENST00000261769.9:c.2440-17dup	ENSP00000261769.4:n.2440-17dup
ENST00000422392.6:c.2257-17dup	ENSP00000414946.2:n.2257-17dup
ENST00000562118.1:n.658-17dup
ENST00000562836.5:n.2511-17dup
ENST00000566510.5:c.*1106-17dup	ENSP00000458139.1:n.*1106-17dup
ENST00000566612.5:c.*680-17dup	ENSP00000454782.1:n.*680-17dup
ENST00000611625.4:c.2503-17dup	ENSP00000481063.1:n.2503-17dup
ENST00000612417.4:c.1854-918dup	ENSP00000478360.1:n.1854-918dup
ENST00000621016.4:c.1866-930dup	ENSP00000480664.1:n.1866-930dup
NM_004360.3:c.2440-17dup , LRG_301t1:c.2440-17dup	NP_004351.1:n.2440-17dup
XM_011523488.1:c.1705-17dup	XP_011521790.1:n.1705-17dup
XM_011523489.1:c.1705-17dup	XP_011521791.1:n.1705-17dup
NM_001317184.1:c.2257-17dup	NP_001304113.1:n.2257-17dup
NM_001317185.1:c.892-17dup	NP_001304114.1:n.892-17dup
NM_001317186.1:c.475-17dup	NP_001304115.1:n.475-17dup
NM_004360.4:c.2440-17dup	NP_004351.1:n.2440-17dup
NM_004360.5:c.2440-17dup MANE Select	NP_004351.1:n.2440-17dup
NM_001317184.2:c.2257-17dup	NP_001304113.1:n.2257-17dup
NM_001317185.2:c.892-17dup	NP_001304114.1:n.892-17dup
NM_001317186.2:c.475-17dup	NP_001304115.1:n.475-17dup