Canonical Allele Identifier: CA2609586065

Gene: CDH23

Linked Data

• gnomAD v4: 10-71807523-CGAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807529_71807533del , CM000672.2:g.71807529_71807533del	GRCh38
NC_000010.10:g.73567286_73567290del , CM000672.1:g.73567286_73567290del	GRCh37
NC_000010.9:g.73237292_73237296del	NCBI36
NG_008835.1:g.415583_415587del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8322_8326del MANE Select	ENSP00000224721.9:p.Lys2775LeufsTer?
ENST00000642965.1:c.2255_2259del	ENSP00000495222.1:n.2255_2259del
ENST00000647092.1:c.1919_1923del	ENSP00000495176.1:n.1919_1923del
ENST00000224721.10:c.8337_8341del	ENSP00000224721.8:p.Lys2780LeufsTer?
ENST00000398788.4:c.1602_1606del	ENSP00000381768.3:p.Lys535LeufsTer?
ENST00000475158.1:n.1858_1862del
ENST00000619887.4:c.1602_1606del	ENSP00000478374.1:p.Lys535LeufsTer?
ENST00000622827.4:c.8322_8326del	ENSP00000483211.1:p.Lys2775LeufsTer?
NM_001171933.1:c.1602_1606del	NP_001165404.1:p.Lys535LeufsTer?
NM_001171934.1:c.1602_1606del	NP_001165405.1:p.Lys535LeufsTer?
NM_022124.5:c.8322_8326del	NP_071407.4:p.Lys2775LeufsTer?
XM_006717940.2:c.8517_8521del	XP_006718003.1:p.Lys2840LeufsTer?
XM_006717942.2:c.8451_8455del	XP_006718005.1:p.Lys2818LeufsTer?
XM_011540039.1:c.8514_8518del	XP_011538341.1:p.Lys2839LeufsTer?
XM_011540040.1:c.8511_8515del	XP_011538342.1:p.Lys2838LeufsTer?
XM_011540041.1:c.8457_8461del	XP_011538343.1:p.Lys2820LeufsTer?
XM_011540042.1:c.8427_8431del	XP_011538344.1:p.Lys2810LeufsTer?
XM_011540043.1:c.8517_8521del	XP_011538345.1:p.Lys2840LeufsTer?
XM_011540044.1:c.8382_8386del	XP_011538346.1:p.Lys2795LeufsTer?
XM_011540045.1:c.8517_8521del	XP_011538347.1:p.Lys2840LeufsTer?
XM_011540046.1:c.7977_7981del	XP_011538348.1:p.Lys2660LeufsTer?
XM_011540047.1:c.7335_7339del	XP_011538349.1:p.Lys2446LeufsTer?
XM_011540052.1:c.4845_4849del	XP_011538354.1:p.Lys1616LeufsTer?
NM_022124.6:c.8322_8326del MANE Select	NP_071407.4:p.Lys2775LeufsTer?