Canonical Allele Identifier: CA658656069
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 446450
ClinVar RCV Id: RCV000515678
dbSNP Id: rs1554877797
gnomAD v4: 10-71811364-CG-C
MyVariant Identifiers: chr10:g.73571123del (hg19) chr10:g.71811366del (hg38)
PubMed: PMID:25963016
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71811366del , CM000672.2:g.71811366del GRCh38
NC_000010.10:g.73571123del , CM000672.1:g.73571123del GRCh37
NC_000010.9:g.73241129del NCBI36
NG_008835.1:g.419420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.9129del MANE Select ENSP00000224721.9:p.Asn3044ThrfsTer?
ENST00000642965.1:c.3062del ENSP00000495222.1:n.3062del
ENST00000647092.1:c.2726del ENSP00000495176.1:n.2726del
ENST00000224721.10:c.9144del ENSP00000224721.8:p.Asn3049ThrfsTer?
ENST00000398788.4:c.2409del ENSP00000381768.3:p.Asn804ThrfsTer?
ENST00000475158.1:n.2665del
ENST00000619887.4:c.2409del ENSP00000478374.1:p.Asn804ThrfsTer?
ENST00000622827.4:c.9129del ENSP00000483211.1:p.Asn3044ThrfsTer?
NM_001171933.1:c.2409del NP_001165404.1:p.Asn804ThrfsTer?
NM_001171934.1:c.2409del NP_001165405.1:p.Asn804ThrfsTer?
NM_022124.5:c.9129del NP_071407.4:p.Asn3044ThrfsTer?
XM_006717940.2:c.9324del XP_006718003.1:p.Asn3109ThrfsTer?
XM_006717942.2:c.9258del XP_006718005.1:p.Asn3087ThrfsTer?
XM_011540039.1:c.9321del XP_011538341.1:p.Asn3108ThrfsTer?
XM_011540040.1:c.9318del XP_011538342.1:p.Asn3107ThrfsTer?
XM_011540041.1:c.9264del XP_011538343.1:p.Asn3089ThrfsTer?
XM_011540042.1:c.9234del XP_011538344.1:p.Asn3079ThrfsTer?
XM_011540043.1:c.9324del XP_011538345.1:p.Asn3109ThrfsTer?
XM_011540044.1:c.9189del XP_011538346.1:p.Asn3064ThrfsTer?
XM_011540045.1:c.9324del XP_011538347.1:p.Asn3109ThrfsTer?
XM_011540046.1:c.8784del XP_011538348.1:p.Asn2929ThrfsTer?
XM_011540047.1:c.8142del XP_011538349.1:p.Asn2715ThrfsTer?
XM_011540052.1:c.5652del XP_011538354.1:p.Asn1885ThrfsTer?
NM_022124.6:c.9129del MANE Select NP_071407.4:p.Asn3044ThrfsTer?
Search 100 bp 5'
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