Canonical Allele Identifier: CA2609580497

Gene: CDH23

Linked Data

• gnomAD v4: 10-71793327-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793332_71793333del , CM000672.2:g.71793332_71793333del	GRCh38
NC_000010.10:g.73553089_73553090del , CM000672.1:g.73553089_73553090del	GRCh37
NC_000010.9:g.73223095_73223096del	NCBI36
NG_008835.1:g.401386_401387del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6404_6405del MANE Select	ENSP00000224721.9:p.Glu2135GlyfsTer?
ENST00000224721.10:c.6419_6420del	ENSP00000224721.8:p.Glu2140GlyfsTer?
ENST00000622827.4:c.6404_6405del	ENSP00000483211.1:p.Glu2135GlyfsTer?
NM_022124.5:c.6404_6405del	NP_071407.4:p.Glu2135GlyfsTer?
XM_006717940.2:c.6599_6600del	XP_006718003.1:p.Glu2200GlyfsTer?
XM_006717942.2:c.6533_6534del	XP_006718005.1:p.Glu2178GlyfsTer?
XM_011540039.1:c.6596_6597del	XP_011538341.1:p.Glu2199GlyfsTer?
XM_011540040.1:c.6593_6594del	XP_011538342.1:p.Glu2198GlyfsTer?
XM_011540041.1:c.6539_6540del	XP_011538343.1:p.Glu2180GlyfsTer?
XM_011540042.1:c.6577+22_6577+23del	XP_011538344.1:n.6577+22_6577+23del
XM_011540043.1:c.6599_6600del	XP_011538345.1:p.Glu2200GlyfsTer?
XM_011540044.1:c.6464_6465del	XP_011538346.1:p.Glu2155GlyfsTer?
XM_011540045.1:c.6599_6600del	XP_011538347.1:p.Glu2200GlyfsTer?
XM_011540046.1:c.6059_6060del	XP_011538348.1:p.Glu2020GlyfsTer?
XM_011540047.1:c.5417_5418del	XP_011538349.1:p.Glu1806GlyfsTer?
XM_011540048.1:c.6599_6600del	XP_011538350.1:p.Glu2200GlyfsTer?
XM_011540049.1:c.6599_6600del	XP_011538351.1:p.Glu2200GlyfsTer?
XM_011540050.1:c.6599_6600del	XP_011538352.1:p.Glu2200GlyfsTer?
XM_011540051.1:c.6599_6600del	XP_011538353.1:p.Glu2200GlyfsTer?
XM_011540052.1:c.2927_2928del	XP_011538354.1:p.Glu976GlyfsTer?
XR_945796.1:n.6842_6843del
NM_022124.6:c.6404_6405del MANE Select	NP_071407.4:p.Glu2135GlyfsTer?