Canonical Allele Identifier: CA2739275725
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 2811912
ClinVar RCV Id: RCV003685146

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71570947_71570960del , CM000672.2:g.71570947_71570960del GRCh38
NC_000010.10:g.73330704_73330717del , CM000672.1:g.73330704_73330717del GRCh37
NC_000010.9:g.73000710_73000723del NCBI36
NG_008835.1:g.179001_179014del

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.753+29_753+42del MANE Select ENSP00000224721.9:n.753+29_753+42del
ENST00000398809.9:c.753+29_753+42del ENSP00000381789.5:n.753+29_753+42del
ENST00000442677.4:c.753+29_753+42del ENSP00000388894.3:n.753+29_753+42del
ENST00000466757.8:c.124+29_124+42del
ENST00000643732.1:n.529+29_529+42del
ENST00000646131.1:c.417+29_417+42del ENSP00000495098.1:n.417+29_417+42del
ENST00000224721.10:c.768+29_768+42del ENSP00000224721.8:n.768+29_768+42del
ENST00000299366.11:c.753+29_753+42del ENSP00000299366.8:n.753+29_753+42del
ENST00000398809.8:c.753+29_753+42del ENSP00000381789.5:n.753+29_753+42del
ENST00000398842.7:c.504+29_504+42del ENSP00000381822.4:n.504+29_504+42del
ENST00000461841.7:c.753+29_753+42del ENSP00000473454.2:n.753+29_753+42del
ENST00000466757.7:c.124+29_124+42del
ENST00000616684.4:c.753+29_753+42del ENSP00000482036.2:n.753+29_753+42del
ENST00000622827.4:c.753+29_753+42del ENSP00000483211.1:n.753+29_753+42del
NM_001171930.1:c.753+29_753+42del NP_001165401.1:n.753+29_753+42del
NM_001171931.1:c.753+29_753+42del NP_001165402.1:n.753+29_753+42del
NM_001171932.1:c.753+29_753+42del NP_001165403.1:n.753+29_753+42del
NM_022124.5:c.753+29_753+42del NP_071407.4:n.753+29_753+42del
NM_052836.3:c.753+29_753+42del NP_443068.1:n.753+29_753+42del
XM_006717940.2:c.888+29_888+42del XP_006718003.1:n.888+29_888+42del
XM_006717942.2:c.888+29_888+42del XP_006718005.1:n.888+29_888+42del
XM_011540039.1:c.888+29_888+42del XP_011538341.1:n.888+29_888+42del
XM_011540040.1:c.888+29_888+42del XP_011538342.1:n.888+29_888+42del
XM_011540041.1:c.888+29_888+42del XP_011538343.1:n.888+29_888+42del
XM_011540042.1:c.888+29_888+42del XP_011538344.1:n.888+29_888+42del
XM_011540043.1:c.888+29_888+42del XP_011538345.1:n.888+29_888+42del
XM_011540044.1:c.753+29_753+42del XP_011538346.1:n.753+29_753+42del
XM_011540045.1:c.888+29_888+42del XP_011538347.1:n.888+29_888+42del
XM_011540046.1:c.348+29_348+42del XP_011538348.1:n.348+29_348+42del
XM_011540048.1:c.888+29_888+42del XP_011538350.1:n.888+29_888+42del
XM_011540049.1:c.888+29_888+42del XP_011538351.1:n.888+29_888+42del
XM_011540050.1:c.888+29_888+42del XP_011538352.1:n.888+29_888+42del
XM_011540051.1:c.888+29_888+42del XP_011538353.1:n.888+29_888+42del
XM_011540053.1:c.888+29_888+42del XP_011538355.1:n.888+29_888+42del
XM_011540054.1:c.888+29_888+42del XP_011538356.1:n.888+29_888+42del
XR_246128.2:n.162-5816_162-5803del
XR_945796.1:n.1131+29_1131+42del
NM_001171930.2:c.753+29_753+42del NP_001165401.1:n.753+29_753+42del
NM_001171931.2:c.753+29_753+42del NP_001165402.1:n.753+29_753+42del
NM_022124.6:c.753+29_753+42del MANE Select NP_071407.4:n.753+29_753+42del
NM_052836.4:c.753+29_753+42del NP_443068.1:n.753+29_753+42del
NM_001171932.2:c.753+29_753+42del NP_001165403.1:n.753+29_753+42del