Canonical Allele Identifier: CA2788480153
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71799678_71799680del , CM000672.2:g.71799678_71799680del GRCh38
NC_000010.10:g.73559435_73559437del , CM000672.1:g.73559435_73559437del GRCh37
NC_000010.9:g.73229441_73229443del NCBI36
NG_008835.1:g.407732_407734del

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.7362+49_7362+51del MANE Select ENSP00000224721.9:n.7362+49_7362+51del
ENST00000642965.1:c.1295+49_1295+51del ENSP00000495222.1:n.1295+49_1295+51del
ENST00000647092.1:c.959+49_959+51del ENSP00000495176.1:n.959+49_959+51del
ENST00000224721.10:c.7377+49_7377+51del ENSP00000224721.8:n.7377+49_7377+51del
ENST00000398788.4:c.642+49_642+51del ENSP00000381768.3:n.642+49_642+51del
ENST00000475158.1:n.898+49_898+51del
ENST00000619887.4:c.642+49_642+51del ENSP00000478374.1:n.642+49_642+51del
ENST00000622827.4:c.7362+49_7362+51del ENSP00000483211.1:n.7362+49_7362+51del
NM_001171933.1:c.642+49_642+51del NP_001165404.1:n.642+49_642+51del
NM_001171934.1:c.642+49_642+51del NP_001165405.1:n.642+49_642+51del
NM_022124.5:c.7362+49_7362+51del NP_071407.4:n.7362+49_7362+51del
XM_006717940.2:c.7557+49_7557+51del XP_006718003.1:n.7557+49_7557+51del
XM_006717942.2:c.7491+49_7491+51del XP_006718005.1:n.7491+49_7491+51del
XM_011540039.1:c.7554+49_7554+51del XP_011538341.1:n.7554+49_7554+51del
XM_011540040.1:c.7551+49_7551+51del XP_011538342.1:n.7551+49_7551+51del
XM_011540041.1:c.7497+49_7497+51del XP_011538343.1:n.7497+49_7497+51del
XM_011540042.1:c.7467+49_7467+51del XP_011538344.1:n.7467+49_7467+51del
XM_011540043.1:c.7557+49_7557+51del XP_011538345.1:n.7557+49_7557+51del
XM_011540044.1:c.7422+49_7422+51del XP_011538346.1:n.7422+49_7422+51del
XM_011540045.1:c.7557+49_7557+51del XP_011538347.1:n.7557+49_7557+51del
XM_011540046.1:c.7017+49_7017+51del XP_011538348.1:n.7017+49_7017+51del
XM_011540047.1:c.6375+49_6375+51del XP_011538349.1:n.6375+49_6375+51del
XM_011540052.1:c.3885+49_3885+51del XP_011538354.1:n.3885+49_3885+51del
NM_022124.6:c.7362+49_7362+51del MANE Select NP_071407.4:n.7362+49_7362+51del