Canonical Allele Identifier: CA2722286378
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs2132965951

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798533del , CM000672.2:g.71798533del GRCh38
NC_000010.10:g.73558290del , CM000672.1:g.73558290del GRCh37
NC_000010.9:g.73228296del NCBI36
NG_008835.1:g.406587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7009del MANE Select ENSP00000224721.9:p.Asp2337ThrfsTer?
ENST00000642965.1:c.942del ENSP00000495222.1:n.942del
ENST00000647092.1:c.606del ENSP00000495176.1:n.606del
ENST00000224721.10:c.7024del ENSP00000224721.8:p.Asp2342ThrfsTer?
ENST00000398788.4:c.289del ENSP00000381768.3:p.Asp97ThrfsTer?
ENST00000475158.1:n.545del
ENST00000619887.4:c.289del ENSP00000478374.1:p.Asp97ThrfsTer?
ENST00000622827.4:c.7009del ENSP00000483211.1:p.Asp2337ThrfsTer?
NM_001171933.1:c.289del NP_001165404.1:p.Asp97ThrfsTer?
NM_001171934.1:c.289del NP_001165405.1:p.Asp97ThrfsTer?
NM_022124.5:c.7009del NP_071407.4:p.Asp2337ThrfsTer?
XM_006717940.2:c.7204del XP_006718003.1:p.Asp2402ThrfsTer?
XM_006717942.2:c.7138del XP_006718005.1:p.Asp2380ThrfsTer?
XM_011540039.1:c.7201del XP_011538341.1:p.Asp2401ThrfsTer?
XM_011540040.1:c.7198del XP_011538342.1:p.Asp2400ThrfsTer?
XM_011540041.1:c.7144del XP_011538343.1:p.Asp2382ThrfsTer?
XM_011540042.1:c.7114del XP_011538344.1:p.Asp2372ThrfsTer?
XM_011540043.1:c.7204del XP_011538345.1:p.Asp2402ThrfsTer?
XM_011540044.1:c.7069del XP_011538346.1:p.Asp2357ThrfsTer?
XM_011540045.1:c.7204del XP_011538347.1:p.Asp2402ThrfsTer?
XM_011540046.1:c.6664del XP_011538348.1:p.Asp2222ThrfsTer?
XM_011540047.1:c.6022del XP_011538349.1:p.Asp2008ThrfsTer?
XM_011540052.1:c.3532del XP_011538354.1:p.Asp1178ThrfsTer?
NM_022124.6:c.7009del MANE Select NP_071407.4:p.Asp2337ThrfsTer?