Canonical Allele Identifier: CA2695212172

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793324del , CM000672.2:g.71793324del	GRCh38
NC_000010.10:g.73553081del , CM000672.1:g.73553081del	GRCh37
NC_000010.9:g.73223087del	NCBI36
NG_008835.1:g.401378del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6396del MANE Select	ENSP00000224721.9:p.Ile2132MetfsTer11
ENST00000224721.10:c.6411del	ENSP00000224721.8:p.Ile2137MetfsTer11
ENST00000622827.4:c.6396del	ENSP00000483211.1:p.Ile2132MetfsTer11
NM_022124.5:c.6396del	NP_071407.4:p.Ile2132MetfsTer11
XM_006717940.2:c.6591del	XP_006718003.1:p.Ile2197MetfsTer11
XM_006717942.2:c.6525del	XP_006718005.1:p.Ile2175MetfsTer11
XM_011540039.1:c.6588del	XP_011538341.1:p.Ile2196MetfsTer11
XM_011540040.1:c.6585del	XP_011538342.1:p.Ile2195MetfsTer11
XM_011540041.1:c.6531del	XP_011538343.1:p.Ile2177MetfsTer11
XM_011540042.1:c.6577+14del	XP_011538344.1:n.6577+14del
XM_011540043.1:c.6591del	XP_011538345.1:p.Ile2197MetfsTer11
XM_011540044.1:c.6456del	XP_011538346.1:p.Ile2152MetfsTer11
XM_011540045.1:c.6591del	XP_011538347.1:p.Ile2197MetfsTer11
XM_011540046.1:c.6051del	XP_011538348.1:p.Ile2017MetfsTer11
XM_011540047.1:c.5409del	XP_011538349.1:p.Ile1803MetfsTer11
XM_011540048.1:c.6591del	XP_011538350.1:p.Ile2197MetfsTer11
XM_011540049.1:c.6591del	XP_011538351.1:p.Ile2197MetfsTer11
XM_011540050.1:c.6591del	XP_011538352.1:p.Ile2197MetfsTer11
XM_011540051.1:c.6591del	XP_011538353.1:p.Ile2197MetfsTer11
XM_011540052.1:c.2919del	XP_011538354.1:p.Ile973MetfsTer11
XR_945796.1:n.6834del
NM_022124.6:c.6396del MANE Select	NP_071407.4:p.Ile2132MetfsTer11