Canonical Allele Identifier: CA594706194

Gene: CDH23

Linked Data

• dbSNP Id: rs1309646821
• gnomAD v2: 10-73567277-CA-C
• gnomAD v3: 10-71807520-CA-C
• gnomAD v4: 10-71807520-CA-C
• MyVariant Identifiers: chr10:g.73567278del (hg19) ; chr10:g.71807521del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807522del , CM000672.2:g.71807522del	GRCh38
NC_000010.10:g.73567279del , CM000672.1:g.73567279del	GRCh37
NC_000010.9:g.73237285del	NCBI36
NG_008835.1:g.415576del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8315del MANE Select	ENSP00000224721.9:p.Asn2772ThrfsTer?
ENST00000642965.1:c.2248del	ENSP00000495222.1:n.2248del
ENST00000647092.1:c.1912del	ENSP00000495176.1:n.1912del
ENST00000224721.10:c.8330del	ENSP00000224721.8:p.Asn2777ThrfsTer?
ENST00000398788.4:c.1595del	ENSP00000381768.3:p.Asn532ThrfsTer?
ENST00000475158.1:n.1851del
ENST00000619887.4:c.1595del	ENSP00000478374.1:p.Asn532ThrfsTer?
ENST00000622827.4:c.8315del	ENSP00000483211.1:p.Asn2772ThrfsTer?
NM_001171933.1:c.1595del	NP_001165404.1:p.Asn532ThrfsTer?
NM_001171934.1:c.1595del	NP_001165405.1:p.Asn532ThrfsTer?
NM_022124.5:c.8315del	NP_071407.4:p.Asn2772ThrfsTer?
XM_006717940.2:c.8510del	XP_006718003.1:p.Asn2837ThrfsTer?
XM_006717942.2:c.8444del	XP_006718005.1:p.Asn2815ThrfsTer?
XM_011540039.1:c.8507del	XP_011538341.1:p.Asn2836ThrfsTer?
XM_011540040.1:c.8504del	XP_011538342.1:p.Asn2835ThrfsTer?
XM_011540041.1:c.8450del	XP_011538343.1:p.Asn2817ThrfsTer?
XM_011540042.1:c.8420del	XP_011538344.1:p.Asn2807ThrfsTer?
XM_011540043.1:c.8510del	XP_011538345.1:p.Asn2837ThrfsTer?
XM_011540044.1:c.8375del	XP_011538346.1:p.Asn2792ThrfsTer?
XM_011540045.1:c.8510del	XP_011538347.1:p.Asn2837ThrfsTer?
XM_011540046.1:c.7970del	XP_011538348.1:p.Asn2657ThrfsTer?
XM_011540047.1:c.7328del	XP_011538349.1:p.Asn2443ThrfsTer?
XM_011540052.1:c.4838del	XP_011538354.1:p.Asn1613ThrfsTer?
NM_022124.6:c.8315del MANE Select	NP_071407.4:p.Asn2772ThrfsTer?