Canonical Allele Identifier: CA2609541949

Gene: CDH23

Linked Data

• gnomAD v4: 10-71687678-AGCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71687682_71687685del , CM000672.2:g.71687682_71687685del	GRCh38
NC_000010.10:g.73447439_73447442del , CM000672.1:g.73447439_73447442del	GRCh37
NC_000010.9:g.73117445_73117448del	NCBI36
NG_008835.1:g.295736_295739del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.2022_2025del MANE Select	ENSP00000224721.9:p.Ala675ThrfsTer18
ENST00000398809.9:c.2022_2025del	ENSP00000381789.5:p.Ala675ThrfsTer18
ENST00000442677.4:c.2022_2025del	ENSP00000388894.3:p.Ala675ThrfsTer18
ENST00000466757.8:c.1453_1456del
ENST00000224721.10:c.2037_2040del	ENSP00000224721.8:p.Ala680ThrfsTer18
ENST00000299366.11:c.2022_2025del	ENSP00000299366.8:p.Ala675ThrfsTer18
ENST00000398809.8:c.2022_2025del	ENSP00000381789.5:p.Ala675ThrfsTer18
ENST00000442677.3:c.797_800del
ENST00000466757.7:c.1453_1456del
ENST00000616684.4:c.2022_2025del	ENSP00000482036.2:p.Ala675ThrfsTer18
ENST00000622827.4:c.2022_2025del	ENSP00000483211.1:p.Ala675ThrfsTer18
NM_001171930.1:c.2022_2025del	NP_001165401.1:p.Ala675ThrfsTer18
NM_001171931.1:c.2022_2025del	NP_001165402.1:p.Ala675ThrfsTer18
NM_022124.5:c.2022_2025del	NP_071407.4:p.Ala675ThrfsTer18
XM_006717940.2:c.2217_2220del	XP_006718003.1:p.Ala740ThrfsTer18
XM_006717942.2:c.2151_2154del	XP_006718005.1:p.Ala718ThrfsTer18
XM_011540039.1:c.2217_2220del	XP_011538341.1:p.Ala740ThrfsTer18
XM_011540040.1:c.2211_2214del	XP_011538342.1:p.Ala738ThrfsTer18
XM_011540041.1:c.2157_2160del	XP_011538343.1:p.Ala720ThrfsTer18
XM_011540042.1:c.2217_2220del	XP_011538344.1:p.Ala740ThrfsTer18
XM_011540043.1:c.2217_2220del	XP_011538345.1:p.Ala740ThrfsTer18
XM_011540044.1:c.2082_2085del	XP_011538346.1:p.Ala695ThrfsTer18
XM_011540045.1:c.2217_2220del	XP_011538347.1:p.Ala740ThrfsTer18
XM_011540046.1:c.1677_1680del	XP_011538348.1:p.Ala560ThrfsTer18
XM_011540047.1:c.1035_1038del	XP_011538349.1:p.Ala346ThrfsTer18
XM_011540048.1:c.2217_2220del	XP_011538350.1:p.Ala740ThrfsTer18
XM_011540049.1:c.2217_2220del	XP_011538351.1:p.Ala740ThrfsTer18
XM_011540050.1:c.2217_2220del	XP_011538352.1:p.Ala740ThrfsTer18
XM_011540051.1:c.2217_2220del	XP_011538353.1:p.Ala740ThrfsTer18
XM_011540053.1:c.2217_2220del	XP_011538355.1:p.Ala740ThrfsTer18
XM_011540054.1:c.2157_2160del	XP_011538356.1:p.Ala720ThrfsTer18
XR_945796.1:n.2460_2463del
NM_001171930.2:c.2022_2025del	NP_001165401.1:p.Ala675ThrfsTer18
NM_001171931.2:c.2022_2025del	NP_001165402.1:p.Ala675ThrfsTer18
NM_022124.6:c.2022_2025del MANE Select	NP_071407.4:p.Ala675ThrfsTer18