LDH info

Canonical Allele Identifier: CA261773
Gene: CDH23 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 45865
ClinVar RCV Id: RCV000150273
dbSNP Id: rs397517305

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71645936_71645956del , CM000672.2:g.71645936_71645956del GRCh38
NC_000010.10:g.73405693_73405713del , CM000672.1:g.73405693_73405713del GRCh37
NC_000010.9:g.73075699_73075719del NCBI36
NG_008835.1:g.253990_254010del

Transcript Alleles

HGVS Amino-acid change
NM_001171930.1:c.1246_1266del VV NP_001165401.1:p.Ala416_Glu422del
NM_001171931.1:c.1246_1266del VV NP_001165402.1:p.Ala416_Glu422del
NM_022124.5:c.1246_1266del VV NP_071407.4:p.Ala416_Glu422del
NM_052836.3:c.1246_1266del VV NP_443068.1:p.Ala416_Glu422del
XM_006717940.2:c.1441_1461del XP_006718003.1:p.Ala481_Glu487del
XM_006717942.2:c.1375_1395del XP_006718005.1:p.Ala459_Glu465del
XM_011540039.1:c.1441_1461del XP_011538341.1:p.Ala481_Glu487del
XM_011540040.1:c.1435_1455del XP_011538342.1:p.Ala479_Glu485del
XM_011540041.1:c.1381_1401del XP_011538343.1:p.Ala461_Glu467del
XM_011540042.1:c.1441_1461del XP_011538344.1:p.Ala481_Glu487del
XM_011540043.1:c.1441_1461del XP_011538345.1:p.Ala481_Glu487del
XM_011540044.1:c.1306_1326del XP_011538346.1:p.Ala436_Glu442del
XM_011540045.1:c.1441_1461del XP_011538347.1:p.Ala481_Glu487del
XM_011540046.1:c.901_921del XP_011538348.1:p.Ala301_Glu307del
XM_011540047.1:c.259_279del XP_011538349.1:p.Ala87_Glu93del
XM_011540048.1:c.1441_1461del XP_011538350.1:p.Ala481_Glu487del
XM_011540049.1:c.1441_1461del XP_011538351.1:p.Ala481_Glu487del
XM_011540050.1:c.1441_1461del XP_011538352.1:p.Ala481_Glu487del
XM_011540051.1:c.1441_1461del XP_011538353.1:p.Ala481_Glu487del
XM_011540053.1:c.1441_1461del XP_011538355.1:p.Ala481_Glu487del
XM_011540054.1:c.1381_1401del XP_011538356.1:p.Ala461_Glu467del
XR_945796.1:n.1684_1704del
ENST00000224721.10:c.1261_1281del ENSP00000224721.8:p.Ala421_Glu427del
ENST00000299366.11:c.1246_1266del ENSP00000299366.8:p.Ala416_Glu422del
ENST00000398809.8:c.1246_1266del ENSP00000381789.5:p.Ala416_Glu422del
ENST00000398842.7:c.991_1011del ENSP00000381822.4:p.Ala331_Glu337del
ENST00000442677.3:n.21_41del
ENST00000461841.7:c.1246_1266del ENSP00000473454.2:p.Ala416_Glu422del
ENST00000466757.7:n.677_697del
ENST00000470494.5:n.215_235del
ENST00000616684.4:c.1246_1266del ENSP00000482036.2:p.Ala416_Glu422del
ENST00000622827.4:c.1246_1266del ENSP00000483211.1:p.Ala416_Glu422del