Canonical Allele Identifier: CA5546669

Gene: CDH23

Linked Data

• dbSNP Id: rs746630652
• ExAC: 10:73567477 ACAT / A
• gnomAD v2: 10-73567477-ACAT-A
• gnomAD v3: 10-71807720-ACAT-A
• gnomAD v4: 10-71807720-ACAT-A
• MyVariant Identifiers: chr10:g.73567478_73567480del (hg19) ; chr10:g.71807721_71807723del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807723_71807725del , CM000672.2:g.71807723_71807725del	GRCh38
NC_000010.10:g.73567480_73567482del , CM000672.1:g.73567480_73567482del	GRCh37
NC_000010.9:g.73237486_73237488del	NCBI36
NG_008835.1:g.415777_415779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8516_8518del MANE Select	ENSP00000224721.9:p.Ile2839del
ENST00000642965.1:c.2449_2451del	ENSP00000495222.1:n.2449_2451del
ENST00000647092.1:c.2113_2115del	ENSP00000495176.1:n.2113_2115del
ENST00000224721.10:c.8531_8533del	ENSP00000224721.8:p.Ile2844del
ENST00000398788.4:c.1796_1798del	ENSP00000381768.3:p.Ile599del
ENST00000475158.1:n.2052_2054del
ENST00000619887.4:c.1796_1798del	ENSP00000478374.1:p.Ile599del
ENST00000622827.4:c.8516_8518del	ENSP00000483211.1:p.Ile2839del
NM_001171933.1:c.1796_1798del	NP_001165404.1:p.Ile599del
NM_001171934.1:c.1796_1798del	NP_001165405.1:p.Ile599del
NM_022124.5:c.8516_8518del	NP_071407.4:p.Ile2839del
XM_006717940.2:c.8711_8713del	XP_006718003.1:p.Ile2904del
XM_006717942.2:c.8645_8647del	XP_006718005.1:p.Ile2882del
XM_011540039.1:c.8708_8710del	XP_011538341.1:p.Ile2903del
XM_011540040.1:c.8705_8707del	XP_011538342.1:p.Ile2902del
XM_011540041.1:c.8651_8653del	XP_011538343.1:p.Ile2884del
XM_011540042.1:c.8621_8623del	XP_011538344.1:p.Ile2874del
XM_011540043.1:c.8711_8713del	XP_011538345.1:p.Ile2904del
XM_011540044.1:c.8576_8578del	XP_011538346.1:p.Ile2859del
XM_011540045.1:c.8711_8713del	XP_011538347.1:p.Ile2904del
XM_011540046.1:c.8171_8173del	XP_011538348.1:p.Ile2724del
XM_011540047.1:c.7529_7531del	XP_011538349.1:p.Ile2510del
XM_011540052.1:c.5039_5041del	XP_011538354.1:p.Ile1680del
NM_022124.6:c.8516_8518del MANE Select	NP_071407.4:p.Ile2839del