Canonical Allele Identifier: CA2960788844
Community Standard Title: NM_022124.6(CDH23):c.3580-83_3580-82del
Gene: CDH23 HGNC NCBI
C10orf105 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71730386_71730387del , CM000672.2:g.71730386_71730387del GRCh38
NC_000010.10:g.73490143_73490144del , CM000672.1:g.73490143_73490144del GRCh37
NC_000010.9:g.73160149_73160150del NCBI36
NG_008835.1:g.338440_338441del

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.3580-83_3580-82del (CDH23) MANE Select NP_071407.4:n.3580-83_3580-82del
ENST00000224721.12:c.3580-83_3580-82del (CDH23) MANE Select ENSP00000224721.9:n.3580-83_3580-82del
NM_001168390.1:c.-6+7345_-6+7346del (C10orf105) NP_001161862.1:n.-6+7345_-6+7346del
NM_001168390.2:c.-6+7345_-6+7346del (C10orf105) NP_001161862.1:n.-6+7345_-6+7346del
NM_001171930.1:c.3580-83_3580-82del (CDH23) NP_001165401.1:n.3580-83_3580-82del
NM_001171930.2:c.3580-83_3580-82del (CDH23) NP_001165401.1:n.3580-83_3580-82del
NM_022124.5:c.3580-83_3580-82del (CDH23) NP_071407.4:n.3580-83_3580-82del
ENST00000224721.10:c.3595-83_3595-82del (CDH23) ENSP00000224721.8:n.3595-83_3595-82del
ENST00000398786.2:c.-6+7345_-6+7346del (C10orf105) ENSP00000381766.3:n.-6+7345_-6+7346del
ENST00000398792.3:n.272-83_272-82del (CDH23)
ENST00000398809.8:c.3577-83_3577-82del (CDH23) ENSP00000381789.5:n.3577-83_3577-82del
ENST00000398809.9:c.3577-83_3577-82del (CDH23) ENSP00000381789.5:n.3577-83_3577-82del
ENST00000616684.4:c.3580-83_3580-82del (CDH23) ENSP00000482036.2:n.3580-83_3580-82del
ENST00000622827.4:c.3580-83_3580-82del (CDH23) ENSP00000483211.1:n.3580-83_3580-82del
XM_006717940.2:c.3775-83_3775-82del (CDH23) XP_006718003.1:n.3775-83_3775-82del
XM_006717942.2:c.3709-83_3709-82del (CDH23) XP_006718005.1:n.3709-83_3709-82del
XM_011540039.1:c.3775-83_3775-82del (CDH23) XP_011538341.1:n.3775-83_3775-82del
XM_011540040.1:c.3769-83_3769-82del (CDH23) XP_011538342.1:n.3769-83_3769-82del
XM_011540041.1:c.3715-83_3715-82del (CDH23) XP_011538343.1:n.3715-83_3715-82del
XM_011540042.1:c.3775-83_3775-82del (CDH23) XP_011538344.1:n.3775-83_3775-82del
XM_011540043.1:c.3775-83_3775-82del (CDH23) XP_011538345.1:n.3775-83_3775-82del
XM_011540044.1:c.3640-83_3640-82del (CDH23) XP_011538346.1:n.3640-83_3640-82del
XM_011540045.1:c.3775-83_3775-82del (CDH23) XP_011538347.1:n.3775-83_3775-82del
XM_011540046.1:c.3235-83_3235-82del (CDH23) XP_011538348.1:n.3235-83_3235-82del
XM_011540047.1:c.2593-83_2593-82del (CDH23) XP_011538349.1:n.2593-83_2593-82del
XM_011540048.1:c.3775-83_3775-82del (CDH23) XP_011538350.1:n.3775-83_3775-82del
XM_011540049.1:c.3775-83_3775-82del (CDH23) XP_011538351.1:n.3775-83_3775-82del
XM_011540050.1:c.3775-83_3775-82del (CDH23) XP_011538352.1:n.3775-83_3775-82del
XM_011540051.1:c.3775-83_3775-82del (CDH23) XP_011538353.1:n.3775-83_3775-82del
XM_011540052.1:c.103-83_103-82del (CDH23) XP_011538354.1:n.103-83_103-82del
XM_011540053.1:c.3775-83_3775-82del (CDH23) XP_011538355.1:n.3775-83_3775-82del
XR_945796.1:n.4018-83_4018-82del (CDH23)
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