Canonical Allele Identifier: CA594706162

Gene: CDH23

Linked Data

• dbSNP Id: rs1349012367
• gnomAD v2: 10-73558162-AG-A
• gnomAD v3: 10-71798405-AG-A
• gnomAD v4: 10-71798405-AG-A
• MyVariant Identifiers: chr10:g.73558163del (hg19) ; chr10:g.71798406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798406del , CM000672.2:g.71798406del	GRCh38
NC_000010.10:g.73558163del , CM000672.1:g.73558163del	GRCh37
NC_000010.9:g.73228169del	NCBI36
NG_008835.1:g.406460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6882del MANE Select	ENSP00000224721.9:p.Lys2294AsnfsTer?
ENST00000642965.1:c.815del	ENSP00000495222.1:n.815del
ENST00000647092.1:c.479del	ENSP00000495176.1:n.479del
ENST00000224721.10:c.6897del	ENSP00000224721.8:p.Lys2299AsnfsTer?
ENST00000398788.4:c.162del	ENSP00000381768.3:p.Lys54AsnfsTer?
ENST00000475158.1:n.418del
ENST00000619887.4:c.162del	ENSP00000478374.1:p.Lys54AsnfsTer?
ENST00000622827.4:c.6882del	ENSP00000483211.1:p.Lys2294AsnfsTer?
NM_001171933.1:c.162del	NP_001165404.1:p.Lys54AsnfsTer?
NM_001171934.1:c.162del	NP_001165405.1:p.Lys54AsnfsTer?
NM_022124.5:c.6882del	NP_071407.4:p.Lys2294AsnfsTer?
XM_006717940.2:c.7077del	XP_006718003.1:p.Lys2359AsnfsTer?
XM_006717942.2:c.7011del	XP_006718005.1:p.Lys2337AsnfsTer?
XM_011540039.1:c.7074del	XP_011538341.1:p.Lys2358AsnfsTer?
XM_011540040.1:c.7071del	XP_011538342.1:p.Lys2357AsnfsTer?
XM_011540041.1:c.7017del	XP_011538343.1:p.Lys2339AsnfsTer?
XM_011540042.1:c.6987del	XP_011538344.1:p.Lys2329AsnfsTer?
XM_011540043.1:c.7077del	XP_011538345.1:p.Lys2359AsnfsTer?
XM_011540044.1:c.6942del	XP_011538346.1:p.Lys2314AsnfsTer?
XM_011540045.1:c.7077del	XP_011538347.1:p.Lys2359AsnfsTer?
XM_011540046.1:c.6537del	XP_011538348.1:p.Lys2179AsnfsTer?
XM_011540047.1:c.5895del	XP_011538349.1:p.Lys1965AsnfsTer?
XM_011540052.1:c.3405del	XP_011538354.1:p.Lys1135AsnfsTer?
NM_022124.6:c.6882del MANE Select	NP_071407.4:p.Lys2294AsnfsTer?