Canonical Allele Identifier: CA645596587

Gene: CDH1

Linked Data

• ClinVar Variation Id: 463742
• ClinVar RCV Id: RCV003328396
• dbSNP Id: rs1555514406
• COSMIC: COSM4765271
• MyVariant Identifiers: chr16:g.68835617dup (hg19) ; chr16:g.68801714dup (hg38)
• ERepo: CA645596587/MONDO:0007648/007 ; CA645596587/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801714dup , CM000678.2:g.68801714dup	GRCh38
NC_000016.9:g.68835617dup , CM000678.1:g.68835617dup	GRCh37
NC_000016.8:g.67393118dup	NCBI36
NG_008021.1:g.69423dup , LRG_301:g.69423dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.208dup MANE Select	ENSP00000261769.4:p.Ser70PhefsTer24
ENST00000261769.9:c.208dup	ENSP00000261769.4:p.Ser70PhefsTer24
ENST00000422392.6:c.208dup	ENSP00000414946.2:p.Ser70PhefsTer24
ENST00000562836.5:n.279dup
ENST00000564676.5:n.490dup
ENST00000564745.1:n.203dup
ENST00000566510.5:c.208dup	ENSP00000458139.1:p.Ser70PhefsTer24
ENST00000566612.5:c.208dup	ENSP00000454782.1:p.Ser70PhefsTer24
ENST00000611625.4:c.208dup	ENSP00000481063.1:p.Ser70PhefsTer24
ENST00000612417.4:c.208dup	ENSP00000478360.1:p.Ser70PhefsTer24
ENST00000621016.4:c.208dup	ENSP00000480664.1:p.Ser70PhefsTer24
NM_004360.3:c.208dup , LRG_301t1:c.208dup	NP_004351.1:p.Ser70PhefsTer24
XM_011523488.1:c.-528dup	XP_011521790.1:n.-528dup
XM_011523489.1:c.-528dup	XP_011521791.1:n.-528dup
NM_001317184.1:c.208dup	NP_001304113.1:p.Ser70PhefsTer24
NM_001317185.1:c.-1408dup	NP_001304114.1:n.-1408dup
NM_001317186.1:c.-1612dup	NP_001304115.1:n.-1612dup
NM_004360.4:c.208dup	NP_004351.1:p.Ser70PhefsTer24
NM_004360.5:c.208dup MANE Select	NP_004351.1:p.Ser70PhefsTer24
NM_001317184.2:c.208dup	NP_001304113.1:p.Ser70PhefsTer24
NM_001317185.2:c.-1408dup	NP_001304114.1:n.-1408dup
NM_001317186.2:c.-1612dup	NP_001304115.1:n.-1612dup