Canonical Allele Identifier: CA2788479411
Gene: CDH23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71709340_71709344del , CM000672.2:g.71709340_71709344del GRCh38
NC_000010.10:g.73469097_73469101del , CM000672.1:g.73469097_73469101del GRCh37
NC_000010.9:g.73139103_73139107del NCBI36
NG_008835.1:g.317394_317398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.3220+129_3220+133del MANE Select ENSP00000224721.9:n.3220+129_3220+133del
ENST00000398809.9:c.3220+129_3220+133del ENSP00000381789.5:n.3220+129_3220+133del
ENST00000442677.4:c.3220+129_3220+133del ENSP00000388894.3:n.3220+129_3220+133del
ENST00000466757.8:c.2651+129_2651+133del
ENST00000224721.10:c.3235+129_3235+133del ENSP00000224721.8:n.3235+129_3235+133del
ENST00000398809.8:c.3220+129_3220+133del ENSP00000381789.5:n.3220+129_3220+133del
ENST00000442677.3:c.1995+129_1995+133del
ENST00000466757.7:c.2651+129_2651+133del
ENST00000616684.4:c.3220+129_3220+133del ENSP00000482036.2:n.3220+129_3220+133del
ENST00000622827.4:c.3220+129_3220+133del ENSP00000483211.1:n.3220+129_3220+133del
NM_001171930.1:c.3220+129_3220+133del NP_001165401.1:n.3220+129_3220+133del
NM_022124.5:c.3220+129_3220+133del NP_071407.4:n.3220+129_3220+133del
XM_006717940.2:c.3415+129_3415+133del XP_006718003.1:n.3415+129_3415+133del
XM_006717942.2:c.3349+129_3349+133del XP_006718005.1:n.3349+129_3349+133del
XM_011540039.1:c.3415+129_3415+133del XP_011538341.1:n.3415+129_3415+133del
XM_011540040.1:c.3409+129_3409+133del XP_011538342.1:n.3409+129_3409+133del
XM_011540041.1:c.3355+129_3355+133del XP_011538343.1:n.3355+129_3355+133del
XM_011540042.1:c.3415+129_3415+133del XP_011538344.1:n.3415+129_3415+133del
XM_011540043.1:c.3415+129_3415+133del XP_011538345.1:n.3415+129_3415+133del
XM_011540044.1:c.3280+129_3280+133del XP_011538346.1:n.3280+129_3280+133del
XM_011540045.1:c.3415+129_3415+133del XP_011538347.1:n.3415+129_3415+133del
XM_011540046.1:c.2875+129_2875+133del XP_011538348.1:n.2875+129_2875+133del
XM_011540047.1:c.2233+129_2233+133del XP_011538349.1:n.2233+129_2233+133del
XM_011540048.1:c.3415+129_3415+133del XP_011538350.1:n.3415+129_3415+133del
XM_011540049.1:c.3415+129_3415+133del XP_011538351.1:n.3415+129_3415+133del
XM_011540050.1:c.3415+129_3415+133del XP_011538352.1:n.3415+129_3415+133del
XM_011540051.1:c.3415+129_3415+133del XP_011538353.1:n.3415+129_3415+133del
XM_011540053.1:c.3415+129_3415+133del XP_011538355.1:n.3415+129_3415+133del
XR_945796.1:n.3658+129_3658+133del
NM_001171930.2:c.3220+129_3220+133del NP_001165401.1:n.3220+129_3220+133del
NM_022124.6:c.3220+129_3220+133del MANE Select NP_071407.4:n.3220+129_3220+133del