Canonical Allele Identifier: CA2573145279

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1480209
• ClinVar RCV Id: RCV002022006
• dbSNP Id: rs2132984902

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806193_71806198dup , CM000672.2:g.71806193_71806198dup	GRCh38
NC_000010.10:g.73565950_73565955dup , CM000672.1:g.73565950_73565955dup	GRCh37
NC_000010.9:g.73235956_73235961dup	NCBI36
NG_008835.1:g.414247_414252dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8090_8095dup MANE Select	ENSP00000224721.9:p.Gln2698_Pro2699insArg...
ENST00000642965.1:c.2023_2028dup	ENSP00000495222.1:n.2023_2028dup
ENST00000647092.1:c.1687_1692dup	ENSP00000495176.1:n.1687_1692dup
ENST00000224721.10:c.8105_8110dup	ENSP00000224721.8:p.Gln2703_Pro2704insArg...
ENST00000398788.4:c.1370_1375dup	ENSP00000381768.3:p.Gln458_Pro459insArgGl...
ENST00000475158.1:n.1626_1631dup
ENST00000619887.4:c.1370_1375dup	ENSP00000478374.1:p.Gln458_Pro459insArgGl...
ENST00000622827.4:c.8090_8095dup	ENSP00000483211.1:p.Gln2698_Pro2699insArg...
NM_001171933.1:c.1370_1375dup	NP_001165404.1:p.Gln458_Pro459insArgGln
NM_001171934.1:c.1370_1375dup	NP_001165405.1:p.Gln458_Pro459insArgGln
NM_022124.5:c.8090_8095dup	NP_071407.4:p.Gln2698_Pro2699insArgGln
XM_006717940.2:c.8285_8290dup	XP_006718003.1:p.Gln2763_Pro2764insArgGln...
XM_006717942.2:c.8219_8224dup	XP_006718005.1:p.Gln2741_Pro2742insArgGln...
XM_011540039.1:c.8282_8287dup	XP_011538341.1:p.Gln2762_Pro2763insArgGln...
XM_011540040.1:c.8279_8284dup	XP_011538342.1:p.Gln2761_Pro2762insArgGln...
XM_011540041.1:c.8225_8230dup	XP_011538343.1:p.Gln2743_Pro2744insArgGln...
XM_011540042.1:c.8195_8200dup	XP_011538344.1:p.Gln2733_Pro2734insArgGln...
XM_011540043.1:c.8285_8290dup	XP_011538345.1:p.Gln2763_Pro2764insArgGln...
XM_011540044.1:c.8150_8155dup	XP_011538346.1:p.Gln2718_Pro2719insArgGln...
XM_011540045.1:c.8285_8290dup	XP_011538347.1:p.Gln2763_Pro2764insArgGln...
XM_011540046.1:c.7745_7750dup	XP_011538348.1:p.Gln2583_Pro2584insArgGln...
XM_011540047.1:c.7103_7108dup	XP_011538349.1:p.Gln2369_Pro2370insArgGln...
XM_011540052.1:c.4613_4618dup	XP_011538354.1:p.Gln1539_Pro1540insArgGln...
NM_022124.6:c.8090_8095dup MANE Select	NP_071407.4:p.Gln2698_Pro2699insArgGln