Canonical Allele Identifier: CA261775
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 45886
ClinVar RCV Id: RCV000039119
dbSNP Id: rs397517313
MyVariant Identifiers: chr10:g.73447429del (hg19) chr10:g.71687672del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71687672del , CM000672.2:g.71687672del GRCh38
NC_000010.10:g.73447429del , CM000672.1:g.73447429del GRCh37
NC_000010.9:g.73117435del NCBI36
NG_008835.1:g.295726del

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.2012del MANE Select ENSP00000224721.9:p.Phe671SerfsTer23
ENST00000398809.9:c.2012del ENSP00000381789.5:p.Phe671SerfsTer23
ENST00000442677.4:c.2012del ENSP00000388894.3:p.Phe671SerfsTer23
ENST00000466757.8:c.1443del
ENST00000224721.10:c.2027del ENSP00000224721.8:p.Phe676SerfsTer23
ENST00000299366.11:c.2012del ENSP00000299366.8:p.Phe671SerfsTer23
ENST00000398809.8:c.2012del ENSP00000381789.5:p.Phe671SerfsTer23
ENST00000442677.3:c.787del
ENST00000466757.7:c.1443del
ENST00000616684.4:c.2012del ENSP00000482036.2:p.Phe671SerfsTer23
ENST00000622827.4:c.2012del ENSP00000483211.1:p.Phe671SerfsTer23
NM_001171930.1:c.2012del NP_001165401.1:p.Phe671SerfsTer23
NM_001171931.1:c.2012del NP_001165402.1:p.Phe671SerfsTer23
NM_022124.5:c.2012del NP_071407.4:p.Phe671SerfsTer23
XM_006717940.2:c.2207del XP_006718003.1:p.Phe736SerfsTer23
XM_006717942.2:c.2141del XP_006718005.1:p.Phe714SerfsTer23
XM_011540039.1:c.2207del XP_011538341.1:p.Phe736SerfsTer23
XM_011540040.1:c.2201del XP_011538342.1:p.Phe734SerfsTer23
XM_011540041.1:c.2147del XP_011538343.1:p.Phe716SerfsTer23
XM_011540042.1:c.2207del XP_011538344.1:p.Phe736SerfsTer23
XM_011540043.1:c.2207del XP_011538345.1:p.Phe736SerfsTer23
XM_011540044.1:c.2072del XP_011538346.1:p.Phe691SerfsTer23
XM_011540045.1:c.2207del XP_011538347.1:p.Phe736SerfsTer23
XM_011540046.1:c.1667del XP_011538348.1:p.Phe556SerfsTer23
XM_011540047.1:c.1025del XP_011538349.1:p.Phe342SerfsTer23
XM_011540048.1:c.2207del XP_011538350.1:p.Phe736SerfsTer23
XM_011540049.1:c.2207del XP_011538351.1:p.Phe736SerfsTer23
XM_011540050.1:c.2207del XP_011538352.1:p.Phe736SerfsTer23
XM_011540051.1:c.2207del XP_011538353.1:p.Phe736SerfsTer23
XM_011540053.1:c.2207del XP_011538355.1:p.Phe736SerfsTer23
XM_011540054.1:c.2147del XP_011538356.1:p.Phe716SerfsTer23
XR_945796.1:n.2450del
NM_001171930.2:c.2012del NP_001165401.1:p.Phe671SerfsTer23
NM_001171931.2:c.2012del NP_001165402.1:p.Phe671SerfsTer23
NM_022124.6:c.2012del MANE Select NP_071407.4:p.Phe671SerfsTer23
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