Canonical Allele Identifier: CA2695199541

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2680475
• ClinVar RCV Id: RCV003474504

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71802983del , CM000672.2:g.71802983del	GRCh38
NC_000010.10:g.73562740del , CM000672.1:g.73562740del	GRCh37
NC_000010.9:g.73232746del	NCBI36
NG_008835.1:g.411037del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7568del MANE Select	ENSP00000224721.9:p.Pro2523ArgfsTer9
ENST00000642965.1:c.1501del	ENSP00000495222.1:n.1501del
ENST00000647092.1:c.1165del	ENSP00000495176.1:n.1165del
ENST00000224721.10:c.7583del	ENSP00000224721.8:p.Pro2528ArgfsTer9
ENST00000398788.4:c.848del	ENSP00000381768.3:p.Pro283ArgfsTer9
ENST00000475158.1:n.1104del
ENST00000619887.4:c.848del	ENSP00000478374.1:p.Pro283ArgfsTer9
ENST00000622827.4:c.7568del	ENSP00000483211.1:p.Pro2523ArgfsTer9
NM_001171933.1:c.848del	NP_001165404.1:p.Pro283ArgfsTer9
NM_001171934.1:c.848del	NP_001165405.1:p.Pro283ArgfsTer9
NM_022124.5:c.7568del	NP_071407.4:p.Pro2523ArgfsTer9
XM_006717940.2:c.7763del	XP_006718003.1:p.Pro2588ArgfsTer9
XM_006717942.2:c.7697del	XP_006718005.1:p.Pro2566ArgfsTer9
XM_011540039.1:c.7760del	XP_011538341.1:p.Pro2587ArgfsTer9
XM_011540040.1:c.7757del	XP_011538342.1:p.Pro2586ArgfsTer9
XM_011540041.1:c.7703del	XP_011538343.1:p.Pro2568ArgfsTer9
XM_011540042.1:c.7673del	XP_011538344.1:p.Pro2558ArgfsTer9
XM_011540043.1:c.7763del	XP_011538345.1:p.Pro2588ArgfsTer9
XM_011540044.1:c.7628del	XP_011538346.1:p.Pro2543ArgfsTer9
XM_011540045.1:c.7763del	XP_011538347.1:p.Pro2588ArgfsTer9
XM_011540046.1:c.7223del	XP_011538348.1:p.Pro2408ArgfsTer9
XM_011540047.1:c.6581del	XP_011538349.1:p.Pro2194ArgfsTer9
XM_011540052.1:c.4091del	XP_011538354.1:p.Pro1364ArgfsTer9
NM_022124.6:c.7568del MANE Select	NP_071407.4:p.Pro2523ArgfsTer9