Canonical Allele Identifier: CA2788484258

Gene: CDH23

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740943_71740944del , CM000672.2:g.71740943_71740944del	GRCh38
NC_000010.10:g.73500700_73500701del , CM000672.1:g.73500700_73500701del	GRCh37
NC_000010.9:g.73170706_73170707del	NCBI36
NG_008835.1:g.348997_348998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4610_4611del MANE Select	ENSP00000224721.9:p.Val1537GlufsTer2
ENST00000224721.10:c.4625_4626del	ENSP00000224721.8:p.Val1542GlufsTer2
ENST00000398792.3:n.1299_1300del
ENST00000622827.4:c.4610_4611del	ENSP00000483211.1:p.Val1537GlufsTer2
NM_022124.5:c.4610_4611del	NP_071407.4:p.Val1537GlufsTer2
XM_006717940.2:c.4805_4806del	XP_006718003.1:p.Val1602GlufsTer2
XM_006717942.2:c.4739_4740del	XP_006718005.1:p.Val1580GlufsTer2
XM_011540039.1:c.4802_4803del	XP_011538341.1:p.Val1601GlufsTer2
XM_011540040.1:c.4799_4800del	XP_011538342.1:p.Val1600GlufsTer2
XM_011540041.1:c.4745_4746del	XP_011538343.1:p.Val1582GlufsTer2
XM_011540042.1:c.4805_4806del	XP_011538344.1:p.Val1602GlufsTer2
XM_011540043.1:c.4805_4806del	XP_011538345.1:p.Val1602GlufsTer2
XM_011540044.1:c.4670_4671del	XP_011538346.1:p.Val1557GlufsTer2
XM_011540045.1:c.4805_4806del	XP_011538347.1:p.Val1602GlufsTer2
XM_011540046.1:c.4265_4266del	XP_011538348.1:p.Val1422GlufsTer2
XM_011540047.1:c.3623_3624del	XP_011538349.1:p.Val1208GlufsTer2
XM_011540048.1:c.4805_4806del	XP_011538350.1:p.Val1602GlufsTer2
XM_011540049.1:c.4805_4806del	XP_011538351.1:p.Val1602GlufsTer2
XM_011540050.1:c.4805_4806del	XP_011538352.1:p.Val1602GlufsTer2
XM_011540051.1:c.4805_4806del	XP_011538353.1:p.Val1602GlufsTer2
XM_011540052.1:c.1133_1134del	XP_011538354.1:p.Val378GlufsTer2
XM_011540053.1:c.4805_4806del	XP_011538355.1:p.Val1602GlufsTer2
XR_945796.1:n.5048_5049del
NM_022124.6:c.4610_4611del MANE Select	NP_071407.4:p.Val1537GlufsTer2