Canonical Allele Identifier: CA668097550
Gene: CDH23 HGNC NCBI

Linked Data

dbSNP Id: rs1181572565

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71740870_71740871insA , CM000672.2:g.71740870_71740871insA GRCh38
NC_000010.10:g.73500627_73500628insA , CM000672.1:g.73500627_73500628insA GRCh37
NC_000010.9:g.73170633_73170634insA NCBI36
NG_008835.1:g.348924_348925insA

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.4537_4538insA MANE Select ENSP00000224721.9:p.Leu1513HisfsTer10
ENST00000224721.10:c.4552_4553insA ENSP00000224721.8:p.Leu1518HisfsTer10
ENST00000398792.3:n.1226_1227insA
ENST00000622827.4:c.4537_4538insA ENSP00000483211.1:p.Leu1513HisfsTer10
NM_022124.5:c.4537_4538insA NP_071407.4:p.Leu1513HisfsTer10
XM_006717940.2:c.4732_4733insA XP_006718003.1:p.Leu1578HisfsTer10
XM_006717942.2:c.4666_4667insA XP_006718005.1:p.Leu1556HisfsTer10
XM_011540039.1:c.4729_4730insA XP_011538341.1:p.Leu1577HisfsTer10
XM_011540040.1:c.4726_4727insA XP_011538342.1:p.Leu1576HisfsTer10
XM_011540041.1:c.4672_4673insA XP_011538343.1:p.Leu1558HisfsTer10
XM_011540042.1:c.4732_4733insA XP_011538344.1:p.Leu1578HisfsTer10
XM_011540043.1:c.4732_4733insA XP_011538345.1:p.Leu1578HisfsTer10
XM_011540044.1:c.4597_4598insA XP_011538346.1:p.Leu1533HisfsTer10
XM_011540045.1:c.4732_4733insA XP_011538347.1:p.Leu1578HisfsTer10
XM_011540046.1:c.4192_4193insA XP_011538348.1:p.Leu1398HisfsTer10
XM_011540047.1:c.3550_3551insA XP_011538349.1:p.Leu1184HisfsTer10
XM_011540048.1:c.4732_4733insA XP_011538350.1:p.Leu1578HisfsTer10
XM_011540049.1:c.4732_4733insA XP_011538351.1:p.Leu1578HisfsTer10
XM_011540050.1:c.4732_4733insA XP_011538352.1:p.Leu1578HisfsTer10
XM_011540051.1:c.4732_4733insA XP_011538353.1:p.Leu1578HisfsTer10
XM_011540052.1:c.1060_1061insA XP_011538354.1:p.Leu354HisfsTer10
XM_011540053.1:c.4732_4733insA XP_011538355.1:p.Leu1578HisfsTer10
XR_945796.1:n.4975_4976insA
NM_022124.6:c.4537_4538insA MANE Select NP_071407.4:p.Leu1513HisfsTer10