Canonical Allele Identifier: CA16614980

Gene: CDH1

Linked Data

• ClinVar Variation Id: 406624
• ClinVar RCV Id: RCV000473576 ; RCV000575719 ; RCV001810948 ; RCV003476029 ; RCV003328342
• dbSNP Id: rs1555516200
• gnomAD v4: 16-68815760-G-GT
• MyVariant Identifiers: chr16:g.68849664dupT (hg19) ; chr16:g.68815761dupT (hg38)
• PubMed: PMID:18391748 ; PMID:22020549 ; PMID:24389957 ; PMID:25315765
• ERepo: CA16614980/MONDO:0007648/007 ; CA16614980/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815761dup , CM000678.2:g.68815761dup	GRCh38
NC_000016.9:g.68849664dup , CM000678.1:g.68849664dup	GRCh37
NC_000016.8:g.67407165dup	NCBI36
NG_008021.1:g.83470dup , LRG_301:g.83470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1565+2dup MANE Select	ENSP00000261769.4:n.1565+2dup
ENST00000261769.9:c.1565+2dup	ENSP00000261769.4:n.1565+2dup
ENST00000422392.6:c.1382+2dup	ENSP00000414946.2:n.1382+2dup
ENST00000562836.5:n.1636+2dup
ENST00000566510.5:c.*231+2dup	ENSP00000458139.1:n.*231+2dup
ENST00000566612.5:c.1565+2dup	ENSP00000454782.1:n.1565+2dup
ENST00000611625.4:c.1628+2dup	ENSP00000481063.1:n.1628+2dup
ENST00000612417.4:c.1565+2dup	ENSP00000478360.1:n.1565+2dup
ENST00000621016.4:c.1565+2dup	ENSP00000480664.1:n.1565+2dup
NM_004360.3:c.1565+2dup , LRG_301t1:c.1565+2dup	NP_004351.1:n.1565+2dup
XM_011523488.1:c.830+2dup	XP_011521790.1:n.830+2dup
XM_011523489.1:c.830+2dup	XP_011521791.1:n.830+2dup
NM_001317184.1:c.1382+2dup	NP_001304113.1:n.1382+2dup
NM_001317185.1:c.17+2dup	NP_001304114.1:n.17+2dup
NM_001317186.1:c.-255+2dup	NP_001304115.1:n.-255+2dup
NM_004360.4:c.1565+2dup	NP_004351.1:n.1565+2dup
NM_004360.5:c.1565+2dup MANE Select	NP_004351.1:n.1565+2dup
NM_001317184.2:c.1382+2dup	NP_001304113.1:n.1382+2dup
NM_001317185.2:c.17+2dup	NP_001304114.1:n.17+2dup
NM_001317186.2:c.-255+2dup	NP_001304115.1:n.-255+2dup