Canonical Allele Identifier: CA2839192542

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798527dup , CM000672.2:g.71798527dup	GRCh38
NC_000010.10:g.73558284dup , CM000672.1:g.73558284dup	GRCh37
NC_000010.9:g.73228290dup	NCBI36
NG_008835.1:g.406581dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7003dup MANE Select	ENSP00000224721.9:p.Leu2335ProfsTer?
ENST00000642965.1:c.936dup	ENSP00000495222.1:n.936dup
ENST00000647092.1:c.600dup	ENSP00000495176.1:n.600dup
ENST00000224721.10:c.7018dup	ENSP00000224721.8:p.Leu2340ProfsTer?
ENST00000398788.4:c.283dup	ENSP00000381768.3:p.Leu95ProfsTer?
ENST00000475158.1:n.539dup
ENST00000619887.4:c.283dup	ENSP00000478374.1:p.Leu95ProfsTer?
ENST00000622827.4:c.7003dup	ENSP00000483211.1:p.Leu2335ProfsTer?
NM_001171933.1:c.283dup	NP_001165404.1:p.Leu95ProfsTer?
NM_001171934.1:c.283dup	NP_001165405.1:p.Leu95ProfsTer?
NM_022124.5:c.7003dup	NP_071407.4:p.Leu2335ProfsTer?
XM_006717940.2:c.7198dup	XP_006718003.1:p.Leu2400ProfsTer?
XM_006717942.2:c.7132dup	XP_006718005.1:p.Leu2378ProfsTer?
XM_011540039.1:c.7195dup	XP_011538341.1:p.Leu2399ProfsTer?
XM_011540040.1:c.7192dup	XP_011538342.1:p.Leu2398ProfsTer?
XM_011540041.1:c.7138dup	XP_011538343.1:p.Leu2380ProfsTer?
XM_011540042.1:c.7108dup	XP_011538344.1:p.Leu2370ProfsTer?
XM_011540043.1:c.7198dup	XP_011538345.1:p.Leu2400ProfsTer?
XM_011540044.1:c.7063dup	XP_011538346.1:p.Leu2355ProfsTer?
XM_011540045.1:c.7198dup	XP_011538347.1:p.Leu2400ProfsTer?
XM_011540046.1:c.6658dup	XP_011538348.1:p.Leu2220ProfsTer?
XM_011540047.1:c.6016dup	XP_011538349.1:p.Leu2006ProfsTer?
XM_011540052.1:c.3526dup	XP_011538354.1:p.Leu1176ProfsTer?
NM_022124.6:c.7003dup MANE Select	NP_071407.4:p.Leu2335ProfsTer?