Canonical Allele Identifier: CA2697558444
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 2694790
ClinVar RCV Id: RCV003544299

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71740968del , CM000672.2:g.71740968del GRCh38
NC_000010.10:g.73500725del , CM000672.1:g.73500725del GRCh37
NC_000010.9:g.73170731del NCBI36
NG_008835.1:g.349022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.4617+18del MANE Select ENSP00000224721.9:n.4617+18del
ENST00000224721.10:c.4632+18del ENSP00000224721.8:n.4632+18del
ENST00000398792.3:n.1306+18del
ENST00000622827.4:c.4617+18del ENSP00000483211.1:n.4617+18del
NM_022124.5:c.4617+18del NP_071407.4:n.4617+18del
XM_006717940.2:c.4812+18del XP_006718003.1:n.4812+18del
XM_006717942.2:c.4746+18del XP_006718005.1:n.4746+18del
XM_011540039.1:c.4809+18del XP_011538341.1:n.4809+18del
XM_011540040.1:c.4806+18del XP_011538342.1:n.4806+18del
XM_011540041.1:c.4752+18del XP_011538343.1:n.4752+18del
XM_011540042.1:c.4812+18del XP_011538344.1:n.4812+18del
XM_011540043.1:c.4812+18del XP_011538345.1:n.4812+18del
XM_011540044.1:c.4677+18del XP_011538346.1:n.4677+18del
XM_011540045.1:c.4812+18del XP_011538347.1:n.4812+18del
XM_011540046.1:c.4272+18del XP_011538348.1:n.4272+18del
XM_011540047.1:c.3630+18del XP_011538349.1:n.3630+18del
XM_011540048.1:c.4812+18del XP_011538350.1:n.4812+18del
XM_011540049.1:c.4812+18del XP_011538351.1:n.4812+18del
XM_011540050.1:c.4812+18del XP_011538352.1:n.4812+18del
XM_011540051.1:c.4812+18del XP_011538353.1:n.4812+18del
XM_011540052.1:c.1140+18del XP_011538354.1:n.1140+18del
XM_011540053.1:c.4812+18del XP_011538355.1:n.4812+18del
XR_945796.1:n.5055+18del
NM_022124.6:c.4617+18del MANE Select NP_071407.4:n.4617+18del