Canonical Allele Identifier: CA10603042

Gene: CDH23

Linked Data

• ClinVar Variation Id: 280298
• ClinVar RCV Id: RCV000337583
• dbSNP Id: rs55947063
• MyVariant Identifiers: chr10:g.73553087_73553090del (hg19) ; chr10:g.71793330_71793333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793330_71793333del , CM000672.2:g.71793330_71793333del	GRCh38
NC_000010.10:g.73553087_73553090del , CM000672.1:g.73553087_73553090del	GRCh37
NC_000010.9:g.73223093_73223096del	NCBI36
NG_008835.1:g.401384_401387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6402_6405del MANE Select	ENSP00000224721.9:p.Glu2135SerfsTer7
ENST00000224721.10:c.6417_6420del	ENSP00000224721.8:p.Glu2140SerfsTer7
ENST00000622827.4:c.6402_6405del	ENSP00000483211.1:p.Glu2135SerfsTer7
NM_022124.5:c.6402_6405del	NP_071407.4:p.Glu2135SerfsTer7
XM_006717940.2:c.6597_6600del	XP_006718003.1:p.Glu2200SerfsTer7
XM_006717942.2:c.6531_6534del	XP_006718005.1:p.Glu2178SerfsTer7
XM_011540039.1:c.6594_6597del	XP_011538341.1:p.Glu2199SerfsTer7
XM_011540040.1:c.6591_6594del	XP_011538342.1:p.Glu2198SerfsTer7
XM_011540041.1:c.6537_6540del	XP_011538343.1:p.Glu2180SerfsTer7
XM_011540042.1:c.6577+20_6577+23del	XP_011538344.1:n.6577+20_6577+23del
XM_011540043.1:c.6597_6600del	XP_011538345.1:p.Glu2200SerfsTer7
XM_011540044.1:c.6462_6465del	XP_011538346.1:p.Glu2155SerfsTer7
XM_011540045.1:c.6597_6600del	XP_011538347.1:p.Glu2200SerfsTer7
XM_011540046.1:c.6057_6060del	XP_011538348.1:p.Glu2020SerfsTer7
XM_011540047.1:c.5415_5418del	XP_011538349.1:p.Glu1806SerfsTer7
XM_011540048.1:c.6597_6600del	XP_011538350.1:p.Glu2200SerfsTer7
XM_011540049.1:c.6597_6600del	XP_011538351.1:p.Glu2200SerfsTer7
XM_011540050.1:c.6597_6600del	XP_011538352.1:p.Glu2200SerfsTer7
XM_011540051.1:c.6597_6600del	XP_011538353.1:p.Glu2200SerfsTer7
XM_011540052.1:c.2925_2928del	XP_011538354.1:p.Glu976SerfsTer7
XR_945796.1:n.6840_6843del
NM_022124.6:c.6402_6405del MANE Select	NP_071407.4:p.Glu2135SerfsTer7