Canonical Allele Identifier: CA658797436

Gene: CDH23 C10orf105

Linked Data

• ClinVar Variation Id: 504469
• ClinVar RCV Id: RCV000599331
• dbSNP Id: rs1554862262

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71725516_71725517delinsGT , CM000672.2:g.71725516_71725517delinsGT	GRCh38
NC_000010.10:g.73485273_73485274delinsGT , CM000672.1:g.73485273_73485274delinsGT	GRCh37
NC_000010.9:g.73155279_73155280delinsGT	NCBI36
NG_008835.1:g.333570_333571delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3575_3576delinsGT (CDH23) MANE Select	ENSP00000224721.9:p.Val1192Gly
ENST00000398809.9:c.3572_3573delinsGT (CDH23)	ENSP00000381789.5:p.Val1191Gly
ENST00000224721.10:c.3590_3591delinsGT (CDH23)	ENSP00000224721.8:p.Val1197Gly
ENST00000398786.2:c.-5-9175_-5-9174delinsAC (C10orf105)	ENSP00000381766.3:n.-5-9175_-5-9174delinsAC
ENST00000398792.3:n.271+1411_271+1412delinsGT (CDH23)
ENST00000398809.8:c.3572_3573delinsGT (CDH23)	ENSP00000381789.5:p.Val1191Gly
ENST00000616684.4:c.3575_3576delinsGT (CDH23)	ENSP00000482036.2:p.Val1192Gly
ENST00000622827.4:c.3575_3576delinsGT (CDH23)	ENSP00000483211.1:p.Val1192Gly
NM_001168390.1:c.-5-9175_-5-9174delinsAC (C10orf105)	NP_001161862.1:n.-5-9175_-5-9174delinsAC
NM_001171930.1:c.3575_3576delinsGT (CDH23)	NP_001165401.1:p.Val1192Gly
NM_022124.5:c.3575_3576delinsGT (CDH23)	NP_071407.4:p.Val1192Gly
XM_006717940.2:c.3770_3771delinsGT (CDH23)	XP_006718003.1:p.Val1257Gly
XM_006717942.2:c.3704_3705delinsGT (CDH23)	XP_006718005.1:p.Val1235Gly
XM_011539810.1:c.-6+890_-6+891delinsAC (C10orf105)	XP_011538112.1:n.-6+890_-6+891delinsAC
XM_011540039.1:c.3770_3771delinsGT (CDH23)	XP_011538341.1:p.Val1257Gly
XM_011540040.1:c.3764_3765delinsGT (CDH23)	XP_011538342.1:p.Val1255Gly
XM_011540041.1:c.3710_3711delinsGT (CDH23)	XP_011538343.1:p.Val1237Gly
XM_011540042.1:c.3770_3771delinsGT (CDH23)	XP_011538344.1:p.Val1257Gly
XM_011540043.1:c.3770_3771delinsGT (CDH23)	XP_011538345.1:p.Val1257Gly
XM_011540044.1:c.3635_3636delinsGT (CDH23)	XP_011538346.1:p.Val1212Gly
XM_011540045.1:c.3770_3771delinsGT (CDH23)	XP_011538347.1:p.Val1257Gly
XM_011540046.1:c.3230_3231delinsGT (CDH23)	XP_011538348.1:p.Val1077Gly
XM_011540047.1:c.2588_2589delinsGT (CDH23)	XP_011538349.1:p.Val863Gly
XM_011540048.1:c.3770_3771delinsGT (CDH23)	XP_011538350.1:p.Val1257Gly
XM_011540049.1:c.3770_3771delinsGT (CDH23)	XP_011538351.1:p.Val1257Gly
XM_011540050.1:c.3770_3771delinsGT (CDH23)	XP_011538352.1:p.Val1257Gly
XM_011540051.1:c.3770_3771delinsGT (CDH23)	XP_011538353.1:p.Val1257Gly
XM_011540052.1:c.98_99delinsGT (CDH23)	XP_011538354.1:p.Val33Gly
XM_011540053.1:c.3770_3771delinsGT (CDH23)	XP_011538355.1:p.Val1257Gly
XR_945796.1:n.4013_4014delinsGT (CDH23)
NM_001168390.2:c.-5-9175_-5-9174delinsAC (C10orf105)	NP_001161862.1:n.-5-9175_-5-9174delinsAC
NM_001171930.2:c.3575_3576delinsGT (CDH23)	NP_001165401.1:p.Val1192Gly
NM_022124.6:c.3575_3576delinsGT (CDH23) MANE Select	NP_071407.4:p.Val1192Gly