LDH info

Canonical Allele Identifier: CA261795
Gene: CDH23 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 46009
ClinVar RCV Id: RCV000039244
dbSNP Id: rs111033473

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71793340del , CM000672.2:g.71793340del GRCh38
NC_000010.10:g.73553097del , CM000672.1:g.73553097del GRCh37
NC_000010.9:g.73223103del NCBI36
NG_008835.1:g.401394del

Transcript Alleles

HGVS Amino-acid change
NM_022124.5:c.6412del VV NP_071407.4:p.Glu2138SerfsTer5
XM_006717940.2:c.6607del XP_006718003.1:p.Glu2203SerfsTer5
XM_006717942.2:c.6541del XP_006718005.1:p.Glu2181SerfsTer5
XM_011540039.1:c.6604del XP_011538341.1:p.Glu2202SerfsTer5
XM_011540040.1:c.6601del XP_011538342.1:p.Glu2201SerfsTer5
XM_011540041.1:c.6547del XP_011538343.1:p.Glu2183SerfsTer5
XM_011540042.1:c.6577+30del XP_011538344.1:p.=
XM_011540043.1:c.6607del XP_011538345.1:p.Glu2203SerfsTer5
XM_011540044.1:c.6472del XP_011538346.1:p.Glu2158SerfsTer5
XM_011540045.1:c.6607del XP_011538347.1:p.Glu2203SerfsTer5
XM_011540046.1:c.6067del XP_011538348.1:p.Glu2023SerfsTer5
XM_011540047.1:c.5425del XP_011538349.1:p.Glu1809SerfsTer5
XM_011540048.1:c.6607del XP_011538350.1:p.Glu2203SerfsTer5
XM_011540049.1:c.6607del XP_011538351.1:p.Glu2203SerfsTer5
XM_011540050.1:c.6607del XP_011538352.1:p.Glu2203SerfsTer5
XM_011540051.1:c.6607del XP_011538353.1:p.Glu2203SerfsTer5
XM_011540052.1:c.2935del XP_011538354.1:p.Glu979SerfsTer5
XR_945796.1:n.6850del
ENST00000224721.10:c.6427del ENSP00000224721.8:p.Glu2143SerfsTer5
ENST00000622827.4:c.6412del ENSP00000483211.1:p.Glu2138SerfsTer5