Canonical Allele Identifier: CA5543254

Gene: CDH23

Linked Data

• ClinVar Variation Id: 300394
• ClinVar RCV Id: RCV000278801 ; RCV000293582 ; RCV000336161 ; RCV000454789 ; RCV001636864
• dbSNP Id: rs71012280
• ExAC: 10:73157033 C / CCGAGG
• gnomAD v2: 10-73157033-C-CCGAGG
• gnomAD v3: 10-71397276-C-CCGAGG
• gnomAD v4: 10-71397276-C-CCGAGG
• COSMIC: COSM5445868
• MyVariant Identifiers: chr10:g.73157046_73157050dupAGGCG (hg19) ; chr10:g.73157050_73157051insAGGCG (hg19) ; chr10:g.73157043_73157044insCGAGG (hg19) ; chr10:g.73157038_73157039insCGAGG (hg19) ; chr10:g.73157033_73157034insCGAGG (hg19) ; chr10:g.71397289_71397293dupAGGCG (hg38) ; chr10:g.71397293_71397294insAGGCG (hg38) ; chr10:g.71397286_71397287insCGAGG (hg38) ; chr10:g.71397276_71397277insCGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71397289_71397293dup , CM000672.2:g.71397289_71397293dup	GRCh38
NC_000010.10:g.73157046_73157050dup , CM000672.1:g.73157046_73157050dup	GRCh37
NC_000010.9:g.72827052_72827056dup	NCBI36
NG_008835.1:g.5343_5347dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.-35_-31dup MANE Select	ENSP00000224721.9:n.-35_-31dup
ENST00000398809.9:c.-35_-31dup	ENSP00000381789.5:n.-35_-31dup
ENST00000644511.1:c.101_105dup	ENSP00000495691.1:p.Arg38GlyfsTer12
ENST00000224721.10:c.-35_-31dup	ENSP00000224721.8:n.-35_-31dup
ENST00000299366.11:c.-35_-31dup	ENSP00000299366.8:n.-35_-31dup
ENST00000398809.8:c.-35_-31dup	ENSP00000381789.5:n.-35_-31dup
ENST00000398842.7:c.-62_-58dup	ENSP00000381822.4:n.-62_-58dup
ENST00000461841.7:c.-35_-31dup	ENSP00000473454.2:n.-35_-31dup
ENST00000616684.4:c.-35_-31dup	ENSP00000482036.2:n.-35_-31dup
ENST00000622827.4:c.-35_-31dup	ENSP00000483211.1:n.-35_-31dup
NM_001171930.1:c.-35_-31dup	NP_001165401.1:n.-35_-31dup
NM_001171931.1:c.-35_-31dup	NP_001165402.1:n.-35_-31dup
NM_001171932.1:c.-35_-31dup	NP_001165403.1:n.-35_-31dup
NM_022124.5:c.-35_-31dup	NP_071407.4:n.-35_-31dup
NM_052836.3:c.-35_-31dup	NP_443068.1:n.-35_-31dup
XM_006717940.2:c.101_105dup	XP_006718003.1:p.Arg38GlyfsTer27
XM_006717942.2:c.101_105dup	XP_006718005.1:p.Arg38GlyfsTer27
XM_011540039.1:c.101_105dup	XP_011538341.1:p.Arg38GlyfsTer27
XM_011540040.1:c.101_105dup	XP_011538342.1:p.Arg38GlyfsTer27
XM_011540041.1:c.101_105dup	XP_011538343.1:p.Arg38GlyfsTer27
XM_011540042.1:c.101_105dup	XP_011538344.1:p.Arg38GlyfsTer27
XM_011540043.1:c.101_105dup	XP_011538345.1:p.Arg38GlyfsTer27
XM_011540045.1:c.101_105dup	XP_011538347.1:p.Arg38GlyfsTer27
XM_011540048.1:c.101_105dup	XP_011538350.1:p.Arg38GlyfsTer27
XM_011540049.1:c.101_105dup	XP_011538351.1:p.Arg38GlyfsTer27
XM_011540050.1:c.101_105dup	XP_011538352.1:p.Arg38GlyfsTer27
XM_011540051.1:c.101_105dup	XP_011538353.1:p.Arg38GlyfsTer27
XM_011540053.1:c.101_105dup	XP_011538355.1:p.Arg38GlyfsTer27
XM_011540054.1:c.101_105dup	XP_011538356.1:p.Arg38GlyfsTer27
XR_945796.1:n.344_348dup
NM_001171930.2:c.-35_-31dup	NP_001165401.1:n.-35_-31dup
NM_001171931.2:c.-35_-31dup	NP_001165402.1:n.-35_-31dup
NM_022124.6:c.-35_-31dup MANE Select	NP_071407.4:n.-35_-31dup
NM_052836.4:c.-35_-31dup	NP_443068.1:n.-35_-31dup
NM_001171932.2:c.-35_-31dup	NP_001165403.1:n.-35_-31dup