Canonical Allele Identifier: CA2573145284

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1407702
• ClinVar RCV Id: RCV001909328
• dbSNP Id: rs2132988621

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807516_71807523del , CM000672.2:g.71807516_71807523del	GRCh38
NC_000010.10:g.73567273_73567280del , CM000672.1:g.73567273_73567280del	GRCh37
NC_000010.9:g.73237279_73237286del	NCBI36
NG_008835.1:g.415570_415577del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8309_8316del MANE Select	ENSP00000224721.9:p.Ala2770GlyfsTer?
ENST00000642965.1:c.2242_2249del	ENSP00000495222.1:n.2242_2249del
ENST00000647092.1:c.1906_1913del	ENSP00000495176.1:n.1906_1913del
ENST00000224721.10:c.8324_8331del	ENSP00000224721.8:p.Ala2775GlyfsTer?
ENST00000398788.4:c.1589_1596del	ENSP00000381768.3:p.Ala530GlyfsTer?
ENST00000475158.1:n.1845_1852del
ENST00000619887.4:c.1589_1596del	ENSP00000478374.1:p.Ala530GlyfsTer?
ENST00000622827.4:c.8309_8316del	ENSP00000483211.1:p.Ala2770GlyfsTer?
NM_001171933.1:c.1589_1596del	NP_001165404.1:p.Ala530GlyfsTer?
NM_001171934.1:c.1589_1596del	NP_001165405.1:p.Ala530GlyfsTer?
NM_022124.5:c.8309_8316del	NP_071407.4:p.Ala2770GlyfsTer?
XM_006717940.2:c.8504_8511del	XP_006718003.1:p.Ala2835GlyfsTer?
XM_006717942.2:c.8438_8445del	XP_006718005.1:p.Ala2813GlyfsTer?
XM_011540039.1:c.8501_8508del	XP_011538341.1:p.Ala2834GlyfsTer?
XM_011540040.1:c.8498_8505del	XP_011538342.1:p.Ala2833GlyfsTer?
XM_011540041.1:c.8444_8451del	XP_011538343.1:p.Ala2815GlyfsTer?
XM_011540042.1:c.8414_8421del	XP_011538344.1:p.Ala2805GlyfsTer?
XM_011540043.1:c.8504_8511del	XP_011538345.1:p.Ala2835GlyfsTer?
XM_011540044.1:c.8369_8376del	XP_011538346.1:p.Ala2790GlyfsTer?
XM_011540045.1:c.8504_8511del	XP_011538347.1:p.Ala2835GlyfsTer?
XM_011540046.1:c.7964_7971del	XP_011538348.1:p.Ala2655GlyfsTer?
XM_011540047.1:c.7322_7329del	XP_011538349.1:p.Ala2441GlyfsTer?
XM_011540052.1:c.4832_4839del	XP_011538354.1:p.Ala1611GlyfsTer?
NM_022124.6:c.8309_8316del MANE Select	NP_071407.4:p.Ala2770GlyfsTer?