Canonical Allele Identifier: CA2695212111
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71798550del , CM000672.2:g.71798550del GRCh38
NC_000010.10:g.73558307del , CM000672.1:g.73558307del GRCh37
NC_000010.9:g.73228313del NCBI36
NG_008835.1:g.406604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7026del MANE Select ENSP00000224721.9:p.Tyr2343MetfsTer?
ENST00000642965.1:c.959del ENSP00000495222.1:n.959del
ENST00000647092.1:c.623del ENSP00000495176.1:n.623del
ENST00000224721.10:c.7041del ENSP00000224721.8:p.Tyr2348MetfsTer?
ENST00000398788.4:c.306del ENSP00000381768.3:p.Tyr103MetfsTer?
ENST00000475158.1:n.562del
ENST00000619887.4:c.306del ENSP00000478374.1:p.Tyr103MetfsTer?
ENST00000622827.4:c.7026del ENSP00000483211.1:p.Tyr2343MetfsTer?
NM_001171933.1:c.306del NP_001165404.1:p.Tyr103MetfsTer?
NM_001171934.1:c.306del NP_001165405.1:p.Tyr103MetfsTer?
NM_022124.5:c.7026del NP_071407.4:p.Tyr2343MetfsTer?
XM_006717940.2:c.7221del XP_006718003.1:p.Tyr2408MetfsTer?
XM_006717942.2:c.7155del XP_006718005.1:p.Tyr2386MetfsTer?
XM_011540039.1:c.7218del XP_011538341.1:p.Tyr2407MetfsTer?
XM_011540040.1:c.7215del XP_011538342.1:p.Tyr2406MetfsTer?
XM_011540041.1:c.7161del XP_011538343.1:p.Tyr2388MetfsTer?
XM_011540042.1:c.7131del XP_011538344.1:p.Tyr2378MetfsTer?
XM_011540043.1:c.7221del XP_011538345.1:p.Tyr2408MetfsTer?
XM_011540044.1:c.7086del XP_011538346.1:p.Tyr2363MetfsTer?
XM_011540045.1:c.7221del XP_011538347.1:p.Tyr2408MetfsTer?
XM_011540046.1:c.6681del XP_011538348.1:p.Tyr2228MetfsTer?
XM_011540047.1:c.6039del XP_011538349.1:p.Tyr2014MetfsTer?
XM_011540052.1:c.3549del XP_011538354.1:p.Tyr1184MetfsTer?
NM_022124.6:c.7026del MANE Select NP_071407.4:p.Tyr2343MetfsTer?