Canonical Allele Identifier: CA2695199522
Community Standard Title: NM_022124.6(CDH23):c.3720_3733del (p.Asp1240GlufsTer13)
Gene: CDH23 HGNC NCBI
C10orf105 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71731991_71732004del , CM000672.2:g.71731991_71732004del GRCh38
NC_000010.10:g.73491748_73491761del , CM000672.1:g.73491748_73491761del GRCh37
NC_000010.9:g.73161754_73161767del NCBI36
NG_008835.1:g.340045_340058del

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.3720_3733del (CDH23) MANE Select NP_071407.4:p.Asp1240GlufsTer13
ENST00000224721.12:c.3720_3733del (CDH23) MANE Select ENSP00000224721.9:p.Asp1240GlufsTer13
NM_001168390.1:c.-6+5726_-6+5739del (C10orf105) NP_001161862.1:n.-6+5726_-6+5739del
NM_001168390.2:c.-6+5726_-6+5739del (C10orf105) NP_001161862.1:n.-6+5726_-6+5739del
NM_001171930.1:c.3720_3733del (CDH23) NP_001165401.1:p.Asp1240GlufsTer13
NM_001171930.2:c.3720_3733del (CDH23) NP_001165401.1:p.Asp1240GlufsTer13
NM_022124.5:c.3720_3733del (CDH23) NP_071407.4:p.Asp1240GlufsTer13
ENST00000224721.10:c.3735_3748del (CDH23) ENSP00000224721.8:p.Asp1245GlufsTer13
ENST00000398786.2:c.-6+5726_-6+5739del (C10orf105) ENSP00000381766.3:n.-6+5726_-6+5739del
ENST00000398792.3:n.412_425del (CDH23)
ENST00000398809.8:c.3717_3730del (CDH23) ENSP00000381789.5:p.Asp1239GlufsTer13
ENST00000398809.9:c.3717_3730del (CDH23) ENSP00000381789.5:p.Asp1239GlufsTer13
ENST00000616684.4:c.3720_3733del (CDH23) ENSP00000482036.2:p.Asp1240GlufsTer13
ENST00000622827.4:c.3720_3733del (CDH23) ENSP00000483211.1:p.Asp1240GlufsTer13
XM_006717940.2:c.3915_3928del (CDH23) XP_006718003.1:p.Asp1305GlufsTer13
XM_006717942.2:c.3849_3862del (CDH23) XP_006718005.1:p.Asp1283GlufsTer13
XM_011540039.1:c.3915_3928del (CDH23) XP_011538341.1:p.Asp1305GlufsTer13
XM_011540040.1:c.3909_3922del (CDH23) XP_011538342.1:p.Asp1303GlufsTer13
XM_011540041.1:c.3855_3868del (CDH23) XP_011538343.1:p.Asp1285GlufsTer13
XM_011540042.1:c.3915_3928del (CDH23) XP_011538344.1:p.Asp1305GlufsTer13
XM_011540043.1:c.3915_3928del (CDH23) XP_011538345.1:p.Asp1305GlufsTer13
XM_011540044.1:c.3780_3793del (CDH23) XP_011538346.1:p.Asp1260GlufsTer13
XM_011540045.1:c.3915_3928del (CDH23) XP_011538347.1:p.Asp1305GlufsTer13
XM_011540046.1:c.3375_3388del (CDH23) XP_011538348.1:p.Asp1125GlufsTer13
XM_011540047.1:c.2733_2746del (CDH23) XP_011538349.1:p.Asp911GlufsTer13
XM_011540048.1:c.3915_3928del (CDH23) XP_011538350.1:p.Asp1305GlufsTer13
XM_011540049.1:c.3915_3928del (CDH23) XP_011538351.1:p.Asp1305GlufsTer13
XM_011540050.1:c.3915_3928del (CDH23) XP_011538352.1:p.Asp1305GlufsTer13
XM_011540051.1:c.3915_3928del (CDH23) XP_011538353.1:p.Asp1305GlufsTer13
XM_011540052.1:c.243_256del (CDH23) XP_011538354.1:p.Asp81GlufsTer13
XM_011540053.1:c.3915_3928del (CDH23) XP_011538355.1:p.Asp1305GlufsTer13
XR_945796.1:n.4158_4171del (CDH23)