Canonical Allele Identifier: CA2695199512

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2680450
• ClinVar RCV Id: RCV003474479

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71570867dup , CM000672.2:g.71570867dup	GRCh38
NC_000010.10:g.73330624dup , CM000672.1:g.73330624dup	GRCh37
NC_000010.9:g.73000630dup	NCBI36
NG_008835.1:g.178921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.702dup MANE Select	ENSP00000224721.9:p.Ile235HisfsTer?
ENST00000398809.9:c.702dup	ENSP00000381789.5:p.Ile235HisfsTer?
ENST00000442677.4:c.702dup	ENSP00000388894.3:p.Ile235HisfsTer?
ENST00000466757.8:c.73dup
ENST00000643732.1:n.478dup
ENST00000646131.1:c.366dup	ENSP00000495098.1:p.Ile123HisfsTer?
ENST00000224721.10:c.717dup	ENSP00000224721.8:p.Ile240HisfsTer?
ENST00000299366.11:c.702dup	ENSP00000299366.8:p.Ile235HisfsTer?
ENST00000398809.8:c.702dup	ENSP00000381789.5:p.Ile235HisfsTer?
ENST00000398842.7:c.462-9dup	ENSP00000381822.4:n.462-9dup
ENST00000461841.7:c.702dup	ENSP00000473454.2:p.Ile235HisfsTer?
ENST00000466757.7:c.73dup
ENST00000616684.4:c.702dup	ENSP00000482036.2:p.Ile235HisfsTer?
ENST00000622827.4:c.702dup	ENSP00000483211.1:p.Ile235HisfsTer?
NM_001171930.1:c.702dup	NP_001165401.1:p.Ile235HisfsTer?
NM_001171931.1:c.702dup	NP_001165402.1:p.Ile235HisfsTer?
NM_001171932.1:c.702dup	NP_001165403.1:p.Ile235HisfsTer?
NM_022124.5:c.702dup	NP_071407.4:p.Ile235HisfsTer?
NM_052836.3:c.702dup	NP_443068.1:p.Ile235HisfsTer?
XM_006717940.2:c.837dup	XP_006718003.1:p.Ile280HisfsTer?
XM_006717942.2:c.837dup	XP_006718005.1:p.Ile280HisfsTer?
XM_011540039.1:c.837dup	XP_011538341.1:p.Ile280HisfsTer?
XM_011540040.1:c.837dup	XP_011538342.1:p.Ile280HisfsTer?
XM_011540041.1:c.837dup	XP_011538343.1:p.Ile280HisfsTer?
XM_011540042.1:c.837dup	XP_011538344.1:p.Ile280HisfsTer?
XM_011540043.1:c.837dup	XP_011538345.1:p.Ile280HisfsTer?
XM_011540044.1:c.702dup	XP_011538346.1:p.Ile235HisfsTer?
XM_011540045.1:c.837dup	XP_011538347.1:p.Ile280HisfsTer?
XM_011540046.1:c.297dup	XP_011538348.1:p.Ile100HisfsTer?
XM_011540048.1:c.837dup	XP_011538350.1:p.Ile280HisfsTer?
XM_011540049.1:c.837dup	XP_011538351.1:p.Ile280HisfsTer?
XM_011540050.1:c.837dup	XP_011538352.1:p.Ile280HisfsTer?
XM_011540051.1:c.837dup	XP_011538353.1:p.Ile280HisfsTer?
XM_011540053.1:c.837dup	XP_011538355.1:p.Ile280HisfsTer?
XM_011540054.1:c.837dup	XP_011538356.1:p.Ile280HisfsTer?
XR_246128.2:n.162-5730dup
XR_945796.1:n.1080dup
NM_001171930.2:c.702dup	NP_001165401.1:p.Ile235HisfsTer?
NM_001171931.2:c.702dup	NP_001165402.1:p.Ile235HisfsTer?
NM_022124.6:c.702dup MANE Select	NP_071407.4:p.Ile235HisfsTer?
NM_052836.4:c.702dup	NP_443068.1:p.Ile235HisfsTer?
NM_001171932.2:c.702dup	NP_001165403.1:p.Ile235HisfsTer?