Canonical Allele Identifier: CA658658485

Gene: CDH1

Linked Data

• ClinVar Variation Id: 449922
• ClinVar RCV Id: RCV000523842 ; RCV003328392
• dbSNP Id: rs1555515721
• MyVariant Identifiers: chr16:g.68846060_68846061dup (hg19) ; chr16:g.68812157_68812158dup (hg38)
• ERepo: CA658658485/MONDO:0007648/007 ; CA658658485/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68812157_68812158dup , CM000678.2:g.68812157_68812158dup	GRCh38
NC_000016.9:g.68846060_68846061dup , CM000678.1:g.68846060_68846061dup	GRCh37
NC_000016.8:g.67403561_67403562dup	NCBI36
NG_008021.1:g.79866_79867dup , LRG_301:g.79866_79867dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1031_1032dup MANE Select	ENSP00000261769.4:p.Val345TrpfsTer12
ENST00000261769.9:c.1031_1032dup	ENSP00000261769.4:p.Val345TrpfsTer12
ENST00000422392.6:c.1031_1032dup	ENSP00000414946.2:p.Val345TrpfsTer12
ENST00000561751.1:c.653_654dup
ENST00000562836.5:n.1102_1103dup
ENST00000565810.1:n.75_76dup
ENST00000566510.5:c.875_876dup	ENSP00000458139.1:p.Val293TrpfsTer12
ENST00000566612.5:c.1031_1032dup	ENSP00000454782.1:p.Val345TrpfsTer12
ENST00000611625.4:c.1031_1032dup	ENSP00000481063.1:p.Val345TrpfsTer12
ENST00000612417.4:c.1031_1032dup	ENSP00000478360.1:p.Val345TrpfsTer12
ENST00000621016.4:c.1031_1032dup	ENSP00000480664.1:p.Val345TrpfsTer12
NM_004360.3:c.1031_1032dup , LRG_301t1:c.1031_1032dup	NP_004351.1:p.Val345TrpfsTer12
XM_011523488.1:c.296_297dup	XP_011521790.1:p.Val100TrpfsTer12
XM_011523489.1:c.296_297dup	XP_011521791.1:p.Val100TrpfsTer12
NM_001317184.1:c.1031_1032dup	NP_001304113.1:p.Val345TrpfsTer12
NM_001317185.1:c.-585_-584dup	NP_001304114.1:n.-585_-584dup
NM_001317186.1:c.-789_-788dup	NP_001304115.1:n.-789_-788dup
NM_004360.4:c.1031_1032dup	NP_004351.1:p.Val345TrpfsTer12
NM_004360.5:c.1031_1032dup MANE Select	NP_004351.1:p.Val345TrpfsTer12
NM_001317184.2:c.1031_1032dup	NP_001304113.1:p.Val345TrpfsTer12
NM_001317185.2:c.-585_-584dup	NP_001304114.1:n.-585_-584dup
NM_001317186.2:c.-789_-788dup	NP_001304115.1:n.-789_-788dup