Canonical Allele Identifier: CA1918848772
Community Standard Title: NM_022124.6(CDH23):c.3580-206_3580-205dup
Gene: CDH23 HGNC NCBI
C10orf105 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71730263_71730264dup , CM000672.2:g.71730263_71730264dup GRCh38
NC_000010.10:g.73490020_73490021dup , CM000672.1:g.73490020_73490021dup GRCh37
NC_000010.9:g.73160026_73160027dup NCBI36
NG_008835.1:g.338317_338318dup

Transcript Alleles

HGVS Amino-acid Change
NM_022124.6:c.3580-206_3580-205dup (CDH23) MANE Select NP_071407.4:n.3580-206_3580-205dup
ENST00000224721.12:c.3580-206_3580-205dup (CDH23) MANE Select ENSP00000224721.9:n.3580-206_3580-205dup
NM_001168390.1:c.-6+7464_-6+7465dup (C10orf105) NP_001161862.1:n.-6+7464_-6+7465dup
NM_001168390.2:c.-6+7464_-6+7465dup (C10orf105) NP_001161862.1:n.-6+7464_-6+7465dup
NM_001171930.1:c.3580-206_3580-205dup (CDH23) NP_001165401.1:n.3580-206_3580-205dup
NM_001171930.2:c.3580-206_3580-205dup (CDH23) NP_001165401.1:n.3580-206_3580-205dup
NM_022124.5:c.3580-206_3580-205dup (CDH23) NP_071407.4:n.3580-206_3580-205dup
ENST00000224721.10:c.3595-206_3595-205dup (CDH23) ENSP00000224721.8:n.3595-206_3595-205dup
ENST00000398786.2:c.-6+7464_-6+7465dup (C10orf105) ENSP00000381766.3:n.-6+7464_-6+7465dup
ENST00000398792.3:n.272-206_272-205dup (CDH23)
ENST00000398809.8:c.3577-206_3577-205dup (CDH23) ENSP00000381789.5:n.3577-206_3577-205dup
ENST00000398809.9:c.3577-206_3577-205dup (CDH23) ENSP00000381789.5:n.3577-206_3577-205dup
ENST00000616684.4:c.3580-206_3580-205dup (CDH23) ENSP00000482036.2:n.3580-206_3580-205dup
ENST00000622827.4:c.3580-206_3580-205dup (CDH23) ENSP00000483211.1:n.3580-206_3580-205dup
XM_006717940.2:c.3775-206_3775-205dup (CDH23) XP_006718003.1:n.3775-206_3775-205dup
XM_006717942.2:c.3709-206_3709-205dup (CDH23) XP_006718005.1:n.3709-206_3709-205dup
XM_011540039.1:c.3775-206_3775-205dup (CDH23) XP_011538341.1:n.3775-206_3775-205dup
XM_011540040.1:c.3769-206_3769-205dup (CDH23) XP_011538342.1:n.3769-206_3769-205dup
XM_011540041.1:c.3715-206_3715-205dup (CDH23) XP_011538343.1:n.3715-206_3715-205dup
XM_011540042.1:c.3775-206_3775-205dup (CDH23) XP_011538344.1:n.3775-206_3775-205dup
XM_011540043.1:c.3775-206_3775-205dup (CDH23) XP_011538345.1:n.3775-206_3775-205dup
XM_011540044.1:c.3640-206_3640-205dup (CDH23) XP_011538346.1:n.3640-206_3640-205dup
XM_011540045.1:c.3775-206_3775-205dup (CDH23) XP_011538347.1:n.3775-206_3775-205dup
XM_011540046.1:c.3235-206_3235-205dup (CDH23) XP_011538348.1:n.3235-206_3235-205dup
XM_011540047.1:c.2593-206_2593-205dup (CDH23) XP_011538349.1:n.2593-206_2593-205dup
XM_011540048.1:c.3775-206_3775-205dup (CDH23) XP_011538350.1:n.3775-206_3775-205dup
XM_011540049.1:c.3775-206_3775-205dup (CDH23) XP_011538351.1:n.3775-206_3775-205dup
XM_011540050.1:c.3775-206_3775-205dup (CDH23) XP_011538352.1:n.3775-206_3775-205dup
XM_011540051.1:c.3775-206_3775-205dup (CDH23) XP_011538353.1:n.3775-206_3775-205dup
XM_011540052.1:c.103-206_103-205dup (CDH23) XP_011538354.1:n.103-206_103-205dup
XM_011540053.1:c.3775-206_3775-205dup (CDH23) XP_011538355.1:n.3775-206_3775-205dup
XR_945796.1:n.4018-206_4018-205dup (CDH23)
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