Canonical Allele Identifier: CA261784
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 45954
ClinVar RCV Id: RCV000039188
dbSNP Id: rs397517331
MyVariant Identifiers: chr10:g.73199634del (hg19) chr10:g.71439877del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71439877del , CM000672.2:g.71439877del GRCh38
NC_000010.10:g.73199634del , CM000672.1:g.73199634del GRCh37
NC_000010.9:g.72869640del NCBI36
NG_008835.1:g.47931del

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.46del MANE Select ENSP00000224721.9:p.Val16CysfsTer2
ENST00000398809.9:c.46del ENSP00000381789.5:p.Val16CysfsTer2
ENST00000442677.4:c.46del ENSP00000388894.3:p.Val16CysfsTer2
ENST00000644511.1:c.130+42559del ENSP00000495691.1:n.130+42559del
ENST00000224721.10:c.46del ENSP00000224721.8:p.Val16CysfsTer2
ENST00000299366.11:c.46del ENSP00000299366.8:p.Val16CysfsTer2
ENST00000398809.8:c.46del ENSP00000381789.5:p.Val16CysfsTer2
ENST00000398842.7:c.-33+42559del ENSP00000381822.4:n.-33+42559del
ENST00000461841.7:c.46del ENSP00000473454.2:p.Val16CysfsTer2
ENST00000616684.4:c.46del ENSP00000482036.2:p.Val16CysfsTer2
ENST00000622827.4:c.46del ENSP00000483211.1:p.Val16CysfsTer2
NM_001171930.1:c.46del NP_001165401.1:p.Val16CysfsTer2
NM_001171931.1:c.46del NP_001165402.1:p.Val16CysfsTer2
NM_001171932.1:c.46del NP_001165403.1:p.Val16CysfsTer2
NM_022124.5:c.46del NP_071407.4:p.Val16CysfsTer2
NM_052836.3:c.46del NP_443068.1:p.Val16CysfsTer2
XM_006717940.2:c.181del XP_006718003.1:p.Val61CysfsTer2
XM_006717942.2:c.181del XP_006718005.1:p.Val61CysfsTer2
XM_011540039.1:c.181del XP_011538341.1:p.Val61CysfsTer2
XM_011540040.1:c.181del XP_011538342.1:p.Val61CysfsTer2
XM_011540041.1:c.181del XP_011538343.1:p.Val61CysfsTer2
XM_011540042.1:c.181del XP_011538344.1:p.Val61CysfsTer2
XM_011540043.1:c.181del XP_011538345.1:p.Val61CysfsTer2
XM_011540044.1:c.46del XP_011538346.1:p.Val16CysfsTer2
XM_011540045.1:c.181del XP_011538347.1:p.Val61CysfsTer2
XM_011540048.1:c.181del XP_011538350.1:p.Val61CysfsTer2
XM_011540049.1:c.181del XP_011538351.1:p.Val61CysfsTer2
XM_011540050.1:c.181del XP_011538352.1:p.Val61CysfsTer2
XM_011540051.1:c.181del XP_011538353.1:p.Val61CysfsTer2
XM_011540053.1:c.181del XP_011538355.1:p.Val61CysfsTer2
XM_011540054.1:c.181del XP_011538356.1:p.Val61CysfsTer2
XR_945796.1:n.424del
NM_001171930.2:c.46del NP_001165401.1:p.Val16CysfsTer2
NM_001171931.2:c.46del NP_001165402.1:p.Val16CysfsTer2
NM_022124.6:c.46del MANE Select NP_071407.4:p.Val16CysfsTer2
NM_052836.4:c.46del NP_443068.1:p.Val16CysfsTer2
NM_001171932.2:c.46del NP_001165403.1:p.Val16CysfsTer2
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