Canonical Allele Identifier: CA2580081848

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2000931
• ClinVar RCV Id: RCV002810750

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798498dup , CM000672.2:g.71798498dup	GRCh38
NC_000010.10:g.73558255dup , CM000672.1:g.73558255dup	GRCh37
NC_000010.9:g.73228261dup	NCBI36
NG_008835.1:g.406552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6974dup MANE Select	ENSP00000224721.9:p.Leu2327ProfsTer2
ENST00000642965.1:c.907dup	ENSP00000495222.1:n.907dup
ENST00000647092.1:c.571dup	ENSP00000495176.1:n.571dup
ENST00000224721.10:c.6989dup	ENSP00000224721.8:p.Leu2332ProfsTer2
ENST00000398788.4:c.254dup	ENSP00000381768.3:p.Leu87ProfsTer2
ENST00000475158.1:n.510dup
ENST00000619887.4:c.254dup	ENSP00000478374.1:p.Leu87ProfsTer2
ENST00000622827.4:c.6974dup	ENSP00000483211.1:p.Leu2327ProfsTer2
NM_001171933.1:c.254dup	NP_001165404.1:p.Leu87ProfsTer2
NM_001171934.1:c.254dup	NP_001165405.1:p.Leu87ProfsTer2
NM_022124.5:c.6974dup	NP_071407.4:p.Leu2327ProfsTer2
XM_006717940.2:c.7169dup	XP_006718003.1:p.Leu2392ProfsTer2
XM_006717942.2:c.7103dup	XP_006718005.1:p.Leu2370ProfsTer2
XM_011540039.1:c.7166dup	XP_011538341.1:p.Leu2391ProfsTer2
XM_011540040.1:c.7163dup	XP_011538342.1:p.Leu2390ProfsTer2
XM_011540041.1:c.7109dup	XP_011538343.1:p.Leu2372ProfsTer2
XM_011540042.1:c.7079dup	XP_011538344.1:p.Leu2362ProfsTer2
XM_011540043.1:c.7169dup	XP_011538345.1:p.Leu2392ProfsTer2
XM_011540044.1:c.7034dup	XP_011538346.1:p.Leu2347ProfsTer2
XM_011540045.1:c.7169dup	XP_011538347.1:p.Leu2392ProfsTer2
XM_011540046.1:c.6629dup	XP_011538348.1:p.Leu2212ProfsTer2
XM_011540047.1:c.5987dup	XP_011538349.1:p.Leu1998ProfsTer2
XM_011540052.1:c.3497dup	XP_011538354.1:p.Leu1168ProfsTer2
NM_022124.6:c.6974dup MANE Select	NP_071407.4:p.Leu2327ProfsTer2