Canonical Allele Identifier: CA2580615506

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2131990
• ClinVar RCV Id: RCV003036524

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740858_71740860del , CM000672.2:g.71740858_71740860del	GRCh38
NC_000010.10:g.73500615_73500617del , CM000672.1:g.73500615_73500617del	GRCh37
NC_000010.9:g.73170621_73170623del	NCBI36
NG_008835.1:g.348912_348914del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.4525_4527del MANE Select	ENSP00000224721.9:p.Lys1509del
ENST00000224721.10:c.4540_4542del	ENSP00000224721.8:p.Lys1514del
ENST00000398792.3:n.1214_1216del
ENST00000622827.4:c.4525_4527del	ENSP00000483211.1:p.Lys1509del
NM_022124.5:c.4525_4527del	NP_071407.4:p.Lys1509del
XM_006717940.2:c.4720_4722del	XP_006718003.1:p.Lys1574del
XM_006717942.2:c.4654_4656del	XP_006718005.1:p.Lys1552del
XM_011540039.1:c.4717_4719del	XP_011538341.1:p.Lys1573del
XM_011540040.1:c.4714_4716del	XP_011538342.1:p.Lys1572del
XM_011540041.1:c.4660_4662del	XP_011538343.1:p.Lys1554del
XM_011540042.1:c.4720_4722del	XP_011538344.1:p.Lys1574del
XM_011540043.1:c.4720_4722del	XP_011538345.1:p.Lys1574del
XM_011540044.1:c.4585_4587del	XP_011538346.1:p.Lys1529del
XM_011540045.1:c.4720_4722del	XP_011538347.1:p.Lys1574del
XM_011540046.1:c.4180_4182del	XP_011538348.1:p.Lys1394del
XM_011540047.1:c.3538_3540del	XP_011538349.1:p.Lys1180del
XM_011540048.1:c.4720_4722del	XP_011538350.1:p.Lys1574del
XM_011540049.1:c.4720_4722del	XP_011538351.1:p.Lys1574del
XM_011540050.1:c.4720_4722del	XP_011538352.1:p.Lys1574del
XM_011540051.1:c.4720_4722del	XP_011538353.1:p.Lys1574del
XM_011540052.1:c.1048_1050del	XP_011538354.1:p.Lys350del
XM_011540053.1:c.4720_4722del	XP_011538355.1:p.Lys1574del
XR_945796.1:n.4963_4965del
NM_022124.6:c.4525_4527del MANE Select	NP_071407.4:p.Lys1509del