Canonical Allele Identifier: CA2739275737

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2851154
• ClinVar RCV Id: RCV003691002

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740851dup , CM000672.2:g.71740851dup	GRCh38
NC_000010.10:g.73500608dup , CM000672.1:g.73500608dup	GRCh37
NC_000010.9:g.73170614dup	NCBI36
NG_008835.1:g.348905dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.4518dup MANE Select	ENSP00000224721.9:p.Arg1507ThrfsTer16
ENST00000224721.10:c.4533dup	ENSP00000224721.8:p.Arg1512ThrfsTer16
ENST00000398792.3:n.1207dup
ENST00000622827.4:c.4518dup	ENSP00000483211.1:p.Arg1507ThrfsTer16
NM_022124.5:c.4518dup	NP_071407.4:p.Arg1507ThrfsTer16
XM_006717940.2:c.4713dup	XP_006718003.1:p.Arg1572ThrfsTer16
XM_006717942.2:c.4647dup	XP_006718005.1:p.Arg1550ThrfsTer16
XM_011540039.1:c.4710dup	XP_011538341.1:p.Arg1571ThrfsTer16
XM_011540040.1:c.4707dup	XP_011538342.1:p.Arg1570ThrfsTer16
XM_011540041.1:c.4653dup	XP_011538343.1:p.Arg1552ThrfsTer16
XM_011540042.1:c.4713dup	XP_011538344.1:p.Arg1572ThrfsTer16
XM_011540043.1:c.4713dup	XP_011538345.1:p.Arg1572ThrfsTer16
XM_011540044.1:c.4578dup	XP_011538346.1:p.Arg1527ThrfsTer16
XM_011540045.1:c.4713dup	XP_011538347.1:p.Arg1572ThrfsTer16
XM_011540046.1:c.4173dup	XP_011538348.1:p.Arg1392ThrfsTer16
XM_011540047.1:c.3531dup	XP_011538349.1:p.Arg1178ThrfsTer16
XM_011540048.1:c.4713dup	XP_011538350.1:p.Arg1572ThrfsTer16
XM_011540049.1:c.4713dup	XP_011538351.1:p.Arg1572ThrfsTer16
XM_011540050.1:c.4713dup	XP_011538352.1:p.Arg1572ThrfsTer16
XM_011540051.1:c.4713dup	XP_011538353.1:p.Arg1572ThrfsTer16
XM_011540052.1:c.1041dup	XP_011538354.1:p.Arg348ThrfsTer16
XM_011540053.1:c.4713dup	XP_011538355.1:p.Arg1572ThrfsTer16
XR_945796.1:n.4956dup
NM_022124.6:c.4518dup MANE Select	NP_071407.4:p.Arg1507ThrfsTer16