Canonical Allele Identifier: CA2788480632

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800741_71800742del , CM000672.2:g.71800741_71800742del	GRCh38
NC_000010.10:g.73560498_73560499del , CM000672.1:g.73560498_73560499del	GRCh37
NC_000010.9:g.73230504_73230505del	NCBI36
NG_008835.1:g.408795_408796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7468_7469del MANE Select	ENSP00000224721.9:p.Glu2490LysfsTer14
ENST00000642965.1:c.1401_1402del	ENSP00000495222.1:n.1401_1402del
ENST00000647092.1:c.1065_1066del	ENSP00000495176.1:n.1065_1066del
ENST00000224721.10:c.7483_7484del	ENSP00000224721.8:p.Glu2495LysfsTer14
ENST00000398788.4:c.748_749del	ENSP00000381768.3:p.Glu250LysfsTer14
ENST00000475158.1:n.1004_1005del
ENST00000619887.4:c.748_749del	ENSP00000478374.1:p.Glu250LysfsTer14
ENST00000622827.4:c.7468_7469del	ENSP00000483211.1:p.Glu2490LysfsTer14
NM_001171933.1:c.748_749del	NP_001165404.1:p.Glu250LysfsTer14
NM_001171934.1:c.748_749del	NP_001165405.1:p.Glu250LysfsTer14
NM_022124.5:c.7468_7469del	NP_071407.4:p.Glu2490LysfsTer14
XM_006717940.2:c.7663_7664del	XP_006718003.1:p.Glu2555LysfsTer14
XM_006717942.2:c.7597_7598del	XP_006718005.1:p.Glu2533LysfsTer14
XM_011540039.1:c.7660_7661del	XP_011538341.1:p.Glu2554LysfsTer14
XM_011540040.1:c.7657_7658del	XP_011538342.1:p.Glu2553LysfsTer14
XM_011540041.1:c.7603_7604del	XP_011538343.1:p.Glu2535LysfsTer14
XM_011540042.1:c.7573_7574del	XP_011538344.1:p.Glu2525LysfsTer14
XM_011540043.1:c.7663_7664del	XP_011538345.1:p.Glu2555LysfsTer14
XM_011540044.1:c.7528_7529del	XP_011538346.1:p.Glu2510LysfsTer14
XM_011540045.1:c.7663_7664del	XP_011538347.1:p.Glu2555LysfsTer14
XM_011540046.1:c.7123_7124del	XP_011538348.1:p.Glu2375LysfsTer14
XM_011540047.1:c.6481_6482del	XP_011538349.1:p.Glu2161LysfsTer14
XM_011540052.1:c.3991_3992del	XP_011538354.1:p.Glu1331LysfsTer14
NM_022124.6:c.7468_7469del MANE Select	NP_071407.4:p.Glu2490LysfsTer14