Canonical Allele Identifier: CA658798634

Gene: CDH1

Linked Data

• ClinVar Variation Id: 532446
• ClinVar RCV Id: RCV000639217 ; RCV003328443
• dbSNP Id: rs1555517889
• MyVariant Identifiers: chr16:g.68863648_68863667del (hg19) ; chr16:g.68829745_68829764del (hg38)
• ERepo: CA658798634/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829745_68829764del , CM000678.2:g.68829745_68829764del	GRCh38
NC_000016.9:g.68863648_68863667del , CM000678.1:g.68863648_68863667del	GRCh37
NC_000016.8:g.67421149_67421168del	NCBI36
NG_008021.1:g.97454_97473del , LRG_301:g.97454_97473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2387_2406del MANE Select	ENSP00000261769.4:p.Arg796GlnfsTer4
ENST00000261769.9:c.2387_2406del	ENSP00000261769.4:p.Arg796GlnfsTer4
ENST00000422392.6:c.2204_2223del	ENSP00000414946.2:p.Arg735GlnfsTer4
ENST00000562118.1:n.605_624del
ENST00000562836.5:n.2458_2477del
ENST00000566510.5:c.*1053_*1072del	ENSP00000458139.1:n.*1053_*1072del
ENST00000566612.5:c.*627_*646del	ENSP00000454782.1:n.*627_*646del
ENST00000611625.4:c.2450_2469del	ENSP00000481063.1:p.Arg817GlnfsTer4
ENST00000612417.4:c.1853+3191_1853+3210del	ENSP00000478360.1:n.1853+3191_1853+3210del
ENST00000621016.4:c.1866-4458_1866-4439del	ENSP00000480664.1:n.1866-4458_1866-4439del
NM_004360.3:c.2387_2406del , LRG_301t1:c.2387_2406del	NP_004351.1:p.Arg796GlnfsTer4
XM_011523488.1:c.1652_1671del	XP_011521790.1:p.Arg551GlnfsTer4
XM_011523489.1:c.1652_1671del	XP_011521791.1:p.Arg551GlnfsTer4
NM_001317184.1:c.2204_2223del	NP_001304113.1:p.Arg735GlnfsTer4
NM_001317185.1:c.839_858del	NP_001304114.1:p.Arg280GlnfsTer4
NM_001317186.1:c.422_441del	NP_001304115.1:p.Arg141GlnfsTer4
NM_004360.4:c.2387_2406del	NP_004351.1:p.Arg796GlnfsTer4
NM_004360.5:c.2387_2406del MANE Select	NP_004351.1:p.Arg796GlnfsTer4
NM_001317184.2:c.2204_2223del	NP_001304113.1:p.Arg735GlnfsTer4
NM_001317185.2:c.839_858del	NP_001304114.1:p.Arg280GlnfsTer4
NM_001317186.2:c.422_441del	NP_001304115.1:p.Arg141GlnfsTer4