Canonical Allele Identifier: CA2695199531

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2680490
• ClinVar RCV Id: RCV003474519

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799525del , CM000672.2:g.71799525del	GRCh38
NC_000010.10:g.73559282del , CM000672.1:g.73559282del	GRCh37
NC_000010.9:g.73229288del	NCBI36
NG_008835.1:g.407579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7258del MANE Select	ENSP00000224721.9:p.Ile2420SerfsTer3
ENST00000642965.1:c.1191del	ENSP00000495222.1:n.1191del
ENST00000647092.1:c.855del	ENSP00000495176.1:n.855del
ENST00000224721.10:c.7273del	ENSP00000224721.8:p.Ile2425SerfsTer3
ENST00000398788.4:c.538del	ENSP00000381768.3:p.Ile180SerfsTer3
ENST00000475158.1:n.794del
ENST00000619887.4:c.538del	ENSP00000478374.1:p.Ile180SerfsTer3
ENST00000622827.4:c.7258del	ENSP00000483211.1:p.Ile2420SerfsTer3
NM_001171933.1:c.538del	NP_001165404.1:p.Ile180SerfsTer3
NM_001171934.1:c.538del	NP_001165405.1:p.Ile180SerfsTer3
NM_022124.5:c.7258del	NP_071407.4:p.Ile2420SerfsTer3
XM_006717940.2:c.7453del	XP_006718003.1:p.Ile2485SerfsTer3
XM_006717942.2:c.7387del	XP_006718005.1:p.Ile2463SerfsTer3
XM_011540039.1:c.7450del	XP_011538341.1:p.Ile2484SerfsTer3
XM_011540040.1:c.7447del	XP_011538342.1:p.Ile2483SerfsTer3
XM_011540041.1:c.7393del	XP_011538343.1:p.Ile2465SerfsTer3
XM_011540042.1:c.7363del	XP_011538344.1:p.Ile2455SerfsTer3
XM_011540043.1:c.7453del	XP_011538345.1:p.Ile2485SerfsTer3
XM_011540044.1:c.7318del	XP_011538346.1:p.Ile2440SerfsTer3
XM_011540045.1:c.7453del	XP_011538347.1:p.Ile2485SerfsTer3
XM_011540046.1:c.6913del	XP_011538348.1:p.Ile2305SerfsTer3
XM_011540047.1:c.6271del	XP_011538349.1:p.Ile2091SerfsTer3
XM_011540052.1:c.3781del	XP_011538354.1:p.Ile1261SerfsTer3
NM_022124.6:c.7258del MANE Select	NP_071407.4:p.Ile2420SerfsTer3