Canonical Allele Identifier: CA2695212101

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645945del , CM000672.2:g.71645945del	GRCh38
NC_000010.10:g.73405702del , CM000672.1:g.73405702del	GRCh37
NC_000010.9:g.73075708del	NCBI36
NG_008835.1:g.253999del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.1255del MANE Select	ENSP00000224721.9:p.Leu419TrpfsTer28
ENST00000398809.9:c.1255del	ENSP00000381789.5:p.Leu419TrpfsTer28
ENST00000442677.4:c.1255del	ENSP00000388894.3:p.Leu419TrpfsTer28
ENST00000466757.8:c.686del
ENST00000643732.1:n.1091del
ENST00000646131.1:c.919del	ENSP00000495098.1:p.Leu307TrpfsTer28
ENST00000224721.10:c.1270del	ENSP00000224721.8:p.Leu424TrpfsTer28
ENST00000299366.11:c.1255del	ENSP00000299366.8:p.Leu419TrpfsTer28
ENST00000398809.8:c.1255del	ENSP00000381789.5:p.Leu419TrpfsTer28
ENST00000398842.7:c.1000del	ENSP00000381822.4:p.Leu334TrpfsTer28
ENST00000442677.3:c.30del
ENST00000461841.7:c.1255del	ENSP00000473454.2:p.Leu419TrpfsTer28
ENST00000466757.7:c.686del
ENST00000470494.5:c.224del
ENST00000616684.4:c.1255del	ENSP00000482036.2:p.Leu419TrpfsTer28
ENST00000622827.4:c.1255del	ENSP00000483211.1:p.Leu419TrpfsTer28
NM_001171930.1:c.1255del	NP_001165401.1:p.Leu419TrpfsTer28
NM_001171931.1:c.1255del	NP_001165402.1:p.Leu419TrpfsTer28
NM_022124.5:c.1255del	NP_071407.4:p.Leu419TrpfsTer28
NM_052836.3:c.1255del	NP_443068.1:p.Leu419TrpfsTer28
XM_006717940.2:c.1450del	XP_006718003.1:p.Leu484TrpfsTer28
XM_006717942.2:c.1384del	XP_006718005.1:p.Leu462TrpfsTer28
XM_011540039.1:c.1450del	XP_011538341.1:p.Leu484TrpfsTer28
XM_011540040.1:c.1444del	XP_011538342.1:p.Leu482TrpfsTer28
XM_011540041.1:c.1390del	XP_011538343.1:p.Leu464TrpfsTer28
XM_011540042.1:c.1450del	XP_011538344.1:p.Leu484TrpfsTer28
XM_011540043.1:c.1450del	XP_011538345.1:p.Leu484TrpfsTer28
XM_011540044.1:c.1315del	XP_011538346.1:p.Leu439TrpfsTer28
XM_011540045.1:c.1450del	XP_011538347.1:p.Leu484TrpfsTer28
XM_011540046.1:c.910del	XP_011538348.1:p.Leu304TrpfsTer28
XM_011540047.1:c.268del	XP_011538349.1:p.Leu90TrpfsTer28
XM_011540048.1:c.1450del	XP_011538350.1:p.Leu484TrpfsTer28
XM_011540049.1:c.1450del	XP_011538351.1:p.Leu484TrpfsTer28
XM_011540050.1:c.1450del	XP_011538352.1:p.Leu484TrpfsTer28
XM_011540051.1:c.1450del	XP_011538353.1:p.Leu484TrpfsTer28
XM_011540053.1:c.1450del	XP_011538355.1:p.Leu484TrpfsTer28
XM_011540054.1:c.1390del	XP_011538356.1:p.Leu464TrpfsTer28
XR_945796.1:n.1693del
NM_001171930.2:c.1255del	NP_001165401.1:p.Leu419TrpfsTer28
NM_001171931.2:c.1255del	NP_001165402.1:p.Leu419TrpfsTer28
NM_022124.6:c.1255del MANE Select	NP_071407.4:p.Leu419TrpfsTer28
NM_052836.4:c.1255del	NP_443068.1:p.Leu419TrpfsTer28