Canonical Allele Identifier: CA2609590840

Gene: CDH23

Linked Data

• gnomAD v4: 10-71800661-T-TGGACC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800664_71800668dup , CM000672.2:g.71800664_71800668dup	GRCh38
NC_000010.10:g.73560421_73560425dup , CM000672.1:g.73560421_73560425dup	GRCh37
NC_000010.9:g.73230427_73230431dup	NCBI36
NG_008835.1:g.408718_408722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7391_7395dup MANE Select	ENSP00000224721.9:p.Glu2466ThrfsTer10
ENST00000642965.1:c.1324_1328dup	ENSP00000495222.1:n.1324_1328dup
ENST00000647092.1:c.988_992dup	ENSP00000495176.1:n.988_992dup
ENST00000224721.10:c.7406_7410dup	ENSP00000224721.8:p.Glu2471ThrfsTer10
ENST00000398788.4:c.671_675dup	ENSP00000381768.3:p.Glu226ThrfsTer10
ENST00000475158.1:n.927_931dup
ENST00000619887.4:c.671_675dup	ENSP00000478374.1:p.Glu226ThrfsTer10
ENST00000622827.4:c.7391_7395dup	ENSP00000483211.1:p.Glu2466ThrfsTer10
NM_001171933.1:c.671_675dup	NP_001165404.1:p.Glu226ThrfsTer10
NM_001171934.1:c.671_675dup	NP_001165405.1:p.Glu226ThrfsTer10
NM_022124.5:c.7391_7395dup	NP_071407.4:p.Glu2466ThrfsTer10
XM_006717940.2:c.7586_7590dup	XP_006718003.1:p.Glu2531ThrfsTer10
XM_006717942.2:c.7520_7524dup	XP_006718005.1:p.Glu2509ThrfsTer10
XM_011540039.1:c.7583_7587dup	XP_011538341.1:p.Glu2530ThrfsTer10
XM_011540040.1:c.7580_7584dup	XP_011538342.1:p.Glu2529ThrfsTer10
XM_011540041.1:c.7526_7530dup	XP_011538343.1:p.Glu2511ThrfsTer10
XM_011540042.1:c.7496_7500dup	XP_011538344.1:p.Glu2501ThrfsTer10
XM_011540043.1:c.7586_7590dup	XP_011538345.1:p.Glu2531ThrfsTer10
XM_011540044.1:c.7451_7455dup	XP_011538346.1:p.Glu2486ThrfsTer10
XM_011540045.1:c.7586_7590dup	XP_011538347.1:p.Glu2531ThrfsTer10
XM_011540046.1:c.7046_7050dup	XP_011538348.1:p.Glu2351ThrfsTer10
XM_011540047.1:c.6404_6408dup	XP_011538349.1:p.Glu2137ThrfsTer10
XM_011540052.1:c.3914_3918dup	XP_011538354.1:p.Glu1307ThrfsTer10
NM_022124.6:c.7391_7395dup MANE Select	NP_071407.4:p.Glu2466ThrfsTer10