Canonical Allele Identifier: CA2573152611

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1360286
• ClinVar RCV Id: RCV001864920
• dbSNP Id: rs2152138443

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822138_68822139delinsAG , CM000678.2:g.68822138_68822139delinsAG	GRCh38
NC_000016.9:g.68856041_68856042delinsAG , CM000678.1:g.68856041_68856042delinsAG	GRCh37
NC_000016.8:g.67413542_67413543delinsAG	NCBI36
NG_008021.1:g.89847_89848delinsAG , LRG_301:g.89847_89848delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1849_1850delinsAG MANE Select	ENSP00000261769.4:p.Ala617Arg
ENST00000261769.9:c.1849_1850delinsAG	ENSP00000261769.4:p.Ala617Arg
ENST00000422392.6:c.1666_1667delinsAG	ENSP00000414946.2:p.Ala556Arg
ENST00000562836.5:n.1920_1921delinsAG
ENST00000566510.5:c.*515_*516delinsAG	ENSP00000458139.1:n.*515_*516delinsAG
ENST00000566612.5:c.*89_*90delinsAG	ENSP00000454782.1:n.*89_*90delinsAG
ENST00000611625.4:c.1912_1913delinsAG	ENSP00000481063.1:p.Ala638Arg
ENST00000612417.4:c.1830+19_1830+20delinsAG	ENSP00000478360.1:n.1830+19_1830+20delins...
ENST00000621016.4:c.1849_1850delinsAG	ENSP00000480664.1:p.Ala617Arg
NM_004360.3:c.1849_1850delinsAG , LRG_301t1:c.1849_1850delinsAG	NP_004351.1:p.Ala617Arg
XM_011523488.1:c.1114_1115delinsAG	XP_011521790.1:p.Ala372Arg
XM_011523489.1:c.1114_1115delinsAG	XP_011521791.1:p.Ala372Arg
NM_001317184.1:c.1666_1667delinsAG	NP_001304113.1:p.Ala556Arg
NM_001317185.1:c.301_302delinsAG	NP_001304114.1:p.Ala101Arg
NM_001317186.1:c.-117_-116delinsAG	NP_001304115.1:n.-117_-116delinsAG
NM_004360.4:c.1849_1850delinsAG	NP_004351.1:p.Ala617Arg
NM_004360.5:c.1849_1850delinsAG MANE Select	NP_004351.1:p.Ala617Arg
NM_001317184.2:c.1666_1667delinsAG	NP_001304113.1:p.Ala556Arg
NM_001317185.2:c.301_302delinsAG	NP_001304114.1:p.Ala101Arg
NM_001317186.2:c.-117_-116delinsAG	NP_001304115.1:n.-117_-116delinsAG