Canonical Allele Identifier: CA5546661

Gene: CDH23

Linked Data

• dbSNP Id: rs777284585
• ExAC: 10:73567428 GA / G
• gnomAD v2: 10-73567428-GA-G
• gnomAD v4: 10-71807671-GA-G
• MyVariant Identifiers: chr10:g.73567429del (hg19) ; chr10:g.71807672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807672del , CM000672.2:g.71807672del	GRCh38
NC_000010.10:g.73567429del , CM000672.1:g.73567429del	GRCh37
NC_000010.9:g.73237435del	NCBI36
NG_008835.1:g.415726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8465del MANE Select	ENSP00000224721.9:p.Asp2822AlafsTer15
ENST00000642965.1:c.2398del	ENSP00000495222.1:n.2398del
ENST00000647092.1:c.2062del	ENSP00000495176.1:n.2062del
ENST00000224721.10:c.8480del	ENSP00000224721.8:p.Asp2827AlafsTer15
ENST00000398788.4:c.1745del	ENSP00000381768.3:p.Asp582AlafsTer15
ENST00000475158.1:n.2001del
ENST00000619887.4:c.1745del	ENSP00000478374.1:p.Asp582AlafsTer15
ENST00000622827.4:c.8465del	ENSP00000483211.1:p.Asp2822AlafsTer15
NM_001171933.1:c.1745del	NP_001165404.1:p.Asp582AlafsTer15
NM_001171934.1:c.1745del	NP_001165405.1:p.Asp582AlafsTer15
NM_022124.5:c.8465del	NP_071407.4:p.Asp2822AlafsTer15
XM_006717940.2:c.8660del	XP_006718003.1:p.Asp2887AlafsTer15
XM_006717942.2:c.8594del	XP_006718005.1:p.Asp2865AlafsTer15
XM_011540039.1:c.8657del	XP_011538341.1:p.Asp2886AlafsTer15
XM_011540040.1:c.8654del	XP_011538342.1:p.Asp2885AlafsTer15
XM_011540041.1:c.8600del	XP_011538343.1:p.Asp2867AlafsTer15
XM_011540042.1:c.8570del	XP_011538344.1:p.Asp2857AlafsTer15
XM_011540043.1:c.8660del	XP_011538345.1:p.Asp2887AlafsTer15
XM_011540044.1:c.8525del	XP_011538346.1:p.Asp2842AlafsTer15
XM_011540045.1:c.8660del	XP_011538347.1:p.Asp2887AlafsTer15
XM_011540046.1:c.8120del	XP_011538348.1:p.Asp2707AlafsTer15
XM_011540047.1:c.7478del	XP_011538349.1:p.Asp2493AlafsTer15
XM_011540052.1:c.4988del	XP_011538354.1:p.Asp1663AlafsTer15
NM_022124.6:c.8465del MANE Select	NP_071407.4:p.Asp2822AlafsTer15