Canonical Allele Identifier: CA594706160

Gene: CDH23

Linked Data

• ClinVar Variation Id: 644771
• ClinVar RCV Id: RCV000798761 ; RCV003230593 ; RCV003472358
• dbSNP Id: rs1200012430
• gnomAD v2: 10-73558110-GC-G
• gnomAD v4: 10-71798353-GC-G
• MyVariant Identifiers: chr10:g.73558111del (hg19) ; chr10:g.71798354del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798355del , CM000672.2:g.71798355del	GRCh38
NC_000010.10:g.73558112del , CM000672.1:g.73558112del	GRCh37
NC_000010.9:g.73228118del	NCBI36
NG_008835.1:g.406409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6831del MANE Select	ENSP00000224721.9:p.Lys2278SerfsTer2
ENST00000642965.1:c.764del	ENSP00000495222.1:n.764del
ENST00000647092.1:c.428del	ENSP00000495176.1:n.428del
ENST00000224721.10:c.6846del	ENSP00000224721.8:p.Lys2283SerfsTer2
ENST00000398788.4:c.111del	ENSP00000381768.3:p.Lys38SerfsTer2
ENST00000475158.1:n.367del
ENST00000619887.4:c.111del	ENSP00000478374.1:p.Lys38SerfsTer2
ENST00000622827.4:c.6831del	ENSP00000483211.1:p.Lys2278SerfsTer2
NM_001171933.1:c.111del	NP_001165404.1:p.Lys38SerfsTer2
NM_001171934.1:c.111del	NP_001165405.1:p.Lys38SerfsTer2
NM_022124.5:c.6831del	NP_071407.4:p.Lys2278SerfsTer2
XM_006717940.2:c.7026del	XP_006718003.1:p.Lys2343SerfsTer2
XM_006717942.2:c.6960del	XP_006718005.1:p.Lys2321SerfsTer2
XM_011540039.1:c.7023del	XP_011538341.1:p.Lys2342SerfsTer2
XM_011540040.1:c.7020del	XP_011538342.1:p.Lys2341SerfsTer2
XM_011540041.1:c.6966del	XP_011538343.1:p.Lys2323SerfsTer2
XM_011540042.1:c.6936del	XP_011538344.1:p.Lys2313SerfsTer2
XM_011540043.1:c.7026del	XP_011538345.1:p.Lys2343SerfsTer2
XM_011540044.1:c.6891del	XP_011538346.1:p.Lys2298SerfsTer2
XM_011540045.1:c.7026del	XP_011538347.1:p.Lys2343SerfsTer2
XM_011540046.1:c.6486del	XP_011538348.1:p.Lys2163SerfsTer2
XM_011540047.1:c.5844del	XP_011538349.1:p.Lys1949SerfsTer2
XM_011540052.1:c.3354del	XP_011538354.1:p.Lys1119SerfsTer2
NM_022124.6:c.6831del MANE Select	NP_071407.4:p.Lys2278SerfsTer2