Canonical Allele Identifier: CA658658479

Gene: CDH1

Linked Data

• ClinVar Variation Id: 479524
• ClinVar RCV Id: RCV000563868 ; RCV003335486 ; RCV003328408
• dbSNP Id: rs1555515217
• ERepo: CA658658479/MONDO:0007648/007 ; CA658658479/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808516_68808522delinsAGAATA , CM000678.2:g.68808516_68808522delinsAGAATA	GRCh38
NC_000016.9:g.68842419_68842425delinsAGAATA , CM000678.1:g.68842419_68842425delinsAGAATA	GRCh37
NC_000016.8:g.67399920_67399926delinsAGAATA	NCBI36
NG_008021.1:g.76225_76231delinsAGAATA , LRG_301:g.76225_76231delinsAGAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.480_486delinsAGAATA MANE Select	ENSP00000261769.4:p.Ile161GlufsTer?
ENST00000261769.9:c.480_486delinsAGAATA	ENSP00000261769.4:p.Ile161GlufsTer?
ENST00000422392.6:c.480_486delinsAGAATA	ENSP00000414946.2:p.Ile161GlufsTer?
ENST00000561751.1:c.247_253delinsAGAATA
ENST00000562836.5:n.551_557delinsAGAATA
ENST00000564676.5:n.762_768delinsAGAATA
ENST00000564745.1:n.475_481delinsAGAATA
ENST00000566510.5:c.480_486delinsAGAATA	ENSP00000458139.1:p.Ile161GlufsTer?
ENST00000566612.5:c.480_486delinsAGAATA	ENSP00000454782.1:p.Ile161GlufsTer?
ENST00000611625.4:c.480_486delinsAGAATA	ENSP00000481063.1:p.Ile161GlufsTer?
ENST00000612417.4:c.480_486delinsAGAATA	ENSP00000478360.1:p.Ile161GlufsTer?
ENST00000621016.4:c.480_486delinsAGAATA	ENSP00000480664.1:p.Ile161GlufsTer?
NM_004360.3:c.480_486delinsAGAATA , LRG_301t1:c.480_486delinsAGAATA	NP_004351.1:p.Ile161GlufsTer?
XM_011523488.1:c.-256_-250delinsAGAATA	XP_011521790.1:n.-256_-250delinsAGAATA
XM_011523489.1:c.-256_-250delinsAGAATA	XP_011521791.1:n.-256_-250delinsAGAATA
NM_001317184.1:c.480_486delinsAGAATA	NP_001304113.1:p.Ile161GlufsTer?
NM_001317185.1:c.-1136_-1130delinsAGAATA	NP_001304114.1:n.-1136_-1130delinsAGAATA
NM_001317186.1:c.-1340_-1334delinsAGAATA	NP_001304115.1:n.-1340_-1334delinsAGAATA
NM_004360.4:c.480_486delinsAGAATA	NP_004351.1:p.Ile161GlufsTer?
NM_004360.5:c.480_486delinsAGAATA MANE Select	NP_004351.1:p.Ile161GlufsTer?
NM_001317184.2:c.480_486delinsAGAATA	NP_001304113.1:p.Ile161GlufsTer?
NM_001317185.2:c.-1136_-1130delinsAGAATA	NP_001304114.1:n.-1136_-1130delinsAGAATA
NM_001317186.2:c.-1340_-1334delinsAGAATA	NP_001304115.1:n.-1340_-1334delinsAGAATA