Canonical Allele Identifier: CA929793068

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1406663
• ClinVar RCV Id: RCV001906967
• dbSNP Id: rs1841497902
• gnomAD v3: 10-71799540-ACT-A
• gnomAD v4: 10-71799540-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799541_71799542del , CM000672.2:g.71799541_71799542del	GRCh38
NC_000010.10:g.73559298_73559299del , CM000672.1:g.73559298_73559299del	GRCh37
NC_000010.9:g.73229304_73229305del	NCBI36
NG_008835.1:g.407595_407596del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7274_7275del MANE Select	ENSP00000224721.9:p.Thr2425SerfsTer3
ENST00000642965.1:c.1207_1208del	ENSP00000495222.1:n.1207_1208del
ENST00000647092.1:c.871_872del	ENSP00000495176.1:n.871_872del
ENST00000224721.10:c.7289_7290del	ENSP00000224721.8:p.Thr2430SerfsTer3
ENST00000398788.4:c.554_555del	ENSP00000381768.3:p.Thr185SerfsTer3
ENST00000475158.1:n.810_811del
ENST00000619887.4:c.554_555del	ENSP00000478374.1:p.Thr185SerfsTer3
ENST00000622827.4:c.7274_7275del	ENSP00000483211.1:p.Thr2425SerfsTer3
NM_001171933.1:c.554_555del	NP_001165404.1:p.Thr185SerfsTer3
NM_001171934.1:c.554_555del	NP_001165405.1:p.Thr185SerfsTer3
NM_022124.5:c.7274_7275del	NP_071407.4:p.Thr2425SerfsTer3
XM_006717940.2:c.7469_7470del	XP_006718003.1:p.Thr2490SerfsTer3
XM_006717942.2:c.7403_7404del	XP_006718005.1:p.Thr2468SerfsTer3
XM_011540039.1:c.7466_7467del	XP_011538341.1:p.Thr2489SerfsTer3
XM_011540040.1:c.7463_7464del	XP_011538342.1:p.Thr2488SerfsTer3
XM_011540041.1:c.7409_7410del	XP_011538343.1:p.Thr2470SerfsTer3
XM_011540042.1:c.7379_7380del	XP_011538344.1:p.Thr2460SerfsTer3
XM_011540043.1:c.7469_7470del	XP_011538345.1:p.Thr2490SerfsTer3
XM_011540044.1:c.7334_7335del	XP_011538346.1:p.Thr2445SerfsTer3
XM_011540045.1:c.7469_7470del	XP_011538347.1:p.Thr2490SerfsTer3
XM_011540046.1:c.6929_6930del	XP_011538348.1:p.Thr2310SerfsTer3
XM_011540047.1:c.6287_6288del	XP_011538349.1:p.Thr2096SerfsTer3
XM_011540052.1:c.3797_3798del	XP_011538354.1:p.Thr1266SerfsTer3
NM_022124.6:c.7274_7275del MANE Select	NP_071407.4:p.Thr2425SerfsTer3