Canonical Allele Identifier: CA2609587676

Gene: CDH23

Linked Data

• gnomAD v4: 10-71798394-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798398del , CM000672.2:g.71798398del	GRCh38
NC_000010.10:g.73558155del , CM000672.1:g.73558155del	GRCh37
NC_000010.9:g.73228161del	NCBI36
NG_008835.1:g.406452del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6874del MANE Select	ENSP00000224721.9:p.Gln2292SerfsTer?
ENST00000642965.1:c.807del	ENSP00000495222.1:n.807del
ENST00000647092.1:c.471del	ENSP00000495176.1:n.471del
ENST00000224721.10:c.6889del	ENSP00000224721.8:p.Gln2297SerfsTer?
ENST00000398788.4:c.154del	ENSP00000381768.3:p.Gln52SerfsTer?
ENST00000475158.1:n.410del
ENST00000619887.4:c.154del	ENSP00000478374.1:p.Gln52SerfsTer?
ENST00000622827.4:c.6874del	ENSP00000483211.1:p.Gln2292SerfsTer?
NM_001171933.1:c.154del	NP_001165404.1:p.Gln52SerfsTer?
NM_001171934.1:c.154del	NP_001165405.1:p.Gln52SerfsTer?
NM_022124.5:c.6874del	NP_071407.4:p.Gln2292SerfsTer?
XM_006717940.2:c.7069del	XP_006718003.1:p.Gln2357SerfsTer?
XM_006717942.2:c.7003del	XP_006718005.1:p.Gln2335SerfsTer?
XM_011540039.1:c.7066del	XP_011538341.1:p.Gln2356SerfsTer?
XM_011540040.1:c.7063del	XP_011538342.1:p.Gln2355SerfsTer?
XM_011540041.1:c.7009del	XP_011538343.1:p.Gln2337SerfsTer?
XM_011540042.1:c.6979del	XP_011538344.1:p.Gln2327SerfsTer?
XM_011540043.1:c.7069del	XP_011538345.1:p.Gln2357SerfsTer?
XM_011540044.1:c.6934del	XP_011538346.1:p.Gln2312SerfsTer?
XM_011540045.1:c.7069del	XP_011538347.1:p.Gln2357SerfsTer?
XM_011540046.1:c.6529del	XP_011538348.1:p.Gln2177SerfsTer?
XM_011540047.1:c.5887del	XP_011538349.1:p.Gln1963SerfsTer?
XM_011540052.1:c.3397del	XP_011538354.1:p.Gln1133SerfsTer?
NM_022124.6:c.6874del MANE Select	NP_071407.4:p.Gln2292SerfsTer?