Canonical Allele Identifier: CA5546067

Gene: CDH23

Linked Data

• dbSNP Id: rs753771457
• ExAC: 10:73553073 GCCA / G
• gnomAD v2: 10-73553073-GCCA-G
• gnomAD v4: 10-71793316-GCCA-G
• MyVariant Identifiers: chr10:g.73553074_73553076del (hg19) ; chr10:g.71793317_71793319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793320_71793322del , CM000672.2:g.71793320_71793322del	GRCh38
NC_000010.10:g.73553077_73553079del , CM000672.1:g.73553077_73553079del	GRCh37
NC_000010.9:g.73223083_73223085del	NCBI36
NG_008835.1:g.401374_401376del

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6392_6394del MANE Select	ENSP00000224721.9:p.Thr2131del
ENST00000224721.10:c.6407_6409del	ENSP00000224721.8:p.Thr2136del
ENST00000622827.4:c.6392_6394del	ENSP00000483211.1:p.Thr2131del
NM_022124.5:c.6392_6394del	NP_071407.4:p.Thr2131del
XM_006717940.2:c.6587_6589del	XP_006718003.1:p.Thr2196del
XM_006717942.2:c.6521_6523del	XP_006718005.1:p.Thr2174del
XM_011540039.1:c.6584_6586del	XP_011538341.1:p.Thr2195del
XM_011540040.1:c.6581_6583del	XP_011538342.1:p.Thr2194del
XM_011540041.1:c.6527_6529del	XP_011538343.1:p.Thr2176del
XM_011540042.1:c.6577+10_6577+12del	XP_011538344.1:n.6577+10_6577+12del
XM_011540043.1:c.6587_6589del	XP_011538345.1:p.Thr2196del
XM_011540044.1:c.6452_6454del	XP_011538346.1:p.Thr2151del
XM_011540045.1:c.6587_6589del	XP_011538347.1:p.Thr2196del
XM_011540046.1:c.6047_6049del	XP_011538348.1:p.Thr2016del
XM_011540047.1:c.5405_5407del	XP_011538349.1:p.Thr1802del
XM_011540048.1:c.6587_6589del	XP_011538350.1:p.Thr2196del
XM_011540049.1:c.6587_6589del	XP_011538351.1:p.Thr2196del
XM_011540050.1:c.6587_6589del	XP_011538352.1:p.Thr2196del
XM_011540051.1:c.6587_6589del	XP_011538353.1:p.Thr2196del
XM_011540052.1:c.2915_2917del	XP_011538354.1:p.Thr972del
XR_945796.1:n.6830_6832del
NM_022124.6:c.6392_6394del MANE Select	NP_071407.4:p.Thr2131del